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Sample records for early-onset parkinsons disease

  1. Genetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson's Disease

    Directory of Open Access Journals (Sweden)

    Karla Cristina Vasconcelos Moura

    2013-01-01

    Full Text Available Parkinson's disease is the second most frequent neurodegenerative disorder in the world, affecting 1-2% of individuals over the age of 65. The etiology of Parkinson's disease is complex, with the involvement of gene-environment interactions. Although it is considered a disease of late manifestation, early-onset forms of parkinsonism contribute to 5–10% of all cases. In the present study, we screened mutations in coding regions of PARK2 and PINK1 genes in 136 unrelated Brazilian patients with early-onset Parkinson's disease through automatic sequencing. We identified six missense variants in PARK2 gene: one known pathogenic mutation, two variants of uncertain role, and three nonpathogenic changes. No pathogenic mutation was identified in PINK1 gene, only benign polymorphisms. All putative pathogenic variants found in this study were in heterozygous state. Our data show that PARK2 point mutations are more common in Brazilian early-onset Parkinson's disease patients (2.9% than PINK1 missense variants (0%, corroborating other studies worldwide.

  2. Depression and quality of life in monogenic compared to idiopathic, early-onset Parkinson's disease

    DEFF Research Database (Denmark)

    Kasten, Meike; Kertelge, Lena; Tadic, Vera

    2012-01-01

    , and 44% of manifesting carriers of mutations in PD genes, but was rare in the nonmanifesting carriers (7%) and healthy controls (5%). Subjects with Parkinson-associated depression reported fewer feelings of guilt or self-doubt than treated controls, but the occurrence of suicidal ideation was associated......Quality of life (QoL) is decreased in PD and is linked with depression and anxiety. However, little is known about QoL in monogenic PD. Subjects with mutations in PD genes were recruited from ongoing family and genetic studies (manifesting carriers, n = 23; nonmanifesting carriers, n = 19......). For comparison purposes, we included patients with idiopathic PD (IPD; n = 128; early onset, n = 38; late onset, n = 90), healthy controls (n = 127), and data on depressive symptoms of 144 patients with major depression (treated controls). Depression affected 31% of early-onset PD cases, 21% of late-onset cases...

  3. ATP13A2 variants in early-onset Parkinson's disease patients and controls

    DEFF Research Database (Denmark)

    Djarmati, Ana; Hagenah, Johann; Reetz, Kathrin

    2009-01-01

    Four genes responsible for recessively inherited forms of Parkinson's disease (PD) have been identified, including the recently discovered ATP13A2 (PARK9) gene. Our objective was to investigate the role of this gene in a large cohort of PD patients and controls. We extensively screened all 29 exo...

  4. MicroRNAs and Target Genes As Biomarkers for the Diagnosis of Early Onset of Parkinson Disease

    Directory of Open Access Journals (Sweden)

    Ahmad R. Arshad

    2017-10-01

    Full Text Available Among the neurodegenerative disorders, Parkinson's disease (PD ranks as the second most common disorder with a higher prevalence in individuals aged over 60 years old. Younger individuals may also be affected with PD which is known as early onset PD (EOPD. Despite similarities between the characteristics of EOPD and late onset PD (LODP, EOPD patients experience much longer disease manifestations and poorer quality of life. Although some individuals are more prone to have EOPD due to certain genetic alterations, the molecular mechanisms that differentiate between EOPD and LOPD remains unclear. Recent findings in PD patients revealed that there were differences in the genetic profiles of PD patients compared to healthy controls, as well as between EOPD and LOPD patients. There were variants identified that correlated with the decline of cognitive and motor symptoms as well as non-motor symptoms in PD. There were also specific microRNAs that correlated with PD progression, and since microRNAs have been shown to be involved in the maintenance of neuronal development, mitochondrial dysfunction and oxidative stress, there is a strong possibility that these microRNAs can be potentially used to differentiate between subsets of PD patients. PD is mainly diagnosed at the late stage, when almost majority of the dopaminergic neurons are lost. Therefore, identification of molecular biomarkers for early detection of PD is important. Given that miRNAs are crucial in controlling the gene expression, these regulatory microRNAs and their target genes could be used as biomarkers for early diagnosis of PD. In this article, we discussed the genes involved and their regulatory miRNAs, regarding their roles in PD progression, based on the findings of significantly altered microRNAs in EOPD studies. We also discussed the potential of these miRNAs as molecular biomarkers for early diagnosis.

  5. The high prevalence of impulse control behaviors in patients with early-onset Parkinson's disease: A cross-sectional multicenter study.

    Science.gov (United States)

    Vela, L; Martínez Castrillo, J C; García Ruiz, P; Gasca-Salas, C; Macías Macías, Y; Pérez Fernández, E; Ybot, I; Lopez Valdés, E; Kurtis, M M; Posada Rodriguez, I J; Mata, M; Ruiz Huete, C; Eimil, M; Borrue, C; Del Val, J; López-Manzanares, L; Rojo Sebastian, A; Marasescu, R

    2016-09-15

    In Parkinson's disease patients, impulse control disorders (ICDs) have been associated with younger age and early disease onset, yet the prevalence of ICDs in early-onset Parkinson's disease (EOPD) patients has yet to be studied. Thus, we set out to compare the prevalence of impulse control behaviors (ICBs) in a cohort of EOPD patients with that in age and gender matched healthy controls (HCs), as well as to analyze the association of these symptoms with the use of dopaminergic drugs and other clinical or demographic factors. A cross-sectional, multicenter study was carried out on patients recruited from outpatient Movement Disorder Clinics, assessing ICBs using the short form of the Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease (QUIP). In addition, depression and quality of life (QoL) were measured, along with other demographic and clinical variables. Of the 87 EOPD patients, 49 (58.3%) displayed an ICB, as did 28 of the 87 HCs (32.9%; p=0.001). Most of the EOPD patients that displayed an ICB (91.8%) were medicated with a dopamine agonist (DA) and accordingly, DA treatment was associated with a 7-fold increased risk of developing an ICB. Patients with ICBs had a higher depression score and a worse QoL. ICBs are much more prevalent in EOPD patients than in HCs and they are associated with DA intake, depression and a worse QoL. Copyright © 2016 Elsevier B.V. All rights reserved.

  6. Estrogen and early-onset Alzheimer's disease

    NARCIS (Netherlands)

    A.J.C. Slooter (Arjen); J.B. Bronzova (Juliana); A. Hofman (Albert); C. van Broeckhoven (Christine); C.M. van Duijn (Cornelia); J.C.M. Witteman (Jacqueline)

    1999-01-01

    textabstractEstrogen use may be protective for Alzheimer's disease with late onset. However, the effects on early onset Alzheimer's disease are unclear. This issue was studied in a population based setting. For each female patient, a female control was matched on age (within 5 years) and place of

  7. Early-onset Alzheimer's Disease Phenotypes: Neuropsychology and Neural Networks

    Science.gov (United States)

    2017-05-11

    Alzheimer Disease, Early Onset; Alzheimer Disease; Alzheimer Disease, Late Onset; Dementia, Alzheimer Type; Logopenic Progressive Aphasia; Primary Progressive Aphasia; Visuospatial/Perceptual Abilities; Posterior Cortical Atrophy; Executive Dysfunction; Corticobasal Degeneration; Ideomotor Apraxia

  8. Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.

    NARCIS (Netherlands)

    Bonifati, V.; Rohe, C.F.; Breedveld, G.J.; Fabrizio, E.; Mari, M. De; Tassorelli, C.; Tavella, A.; Marconi, R.; Nicholl, D.; Chien, H.F.; Fincati, E.; Abbruzzese, G.; Marini, P.; Gaetano, A. De; Horstink, M.W.I.M.; Maat-Kievit, J.A.; Sampaio, C.; Antonini, A.; Stocchi, F.; Montagna, P.; Toni, V.; Guidi, M.; Dalla Libera, A.; Tinazzi, M.; Pandis, F. De; Goldwurm, S.; Klein, A. de; Barbosa, E.; Lopiano, L.; Martignoni, E.; Lamberti, P.; Vanacore, N.; Meco, G.; Oostra, B.A.

    2005-01-01

    OBJECTIVE: To assess the prevalence, nature, and associated phenotypes of PINK1 gene mutations in a large series of patients with early-onset (<50 years) parkinsonism. METHODS: The authors studied 134 patients (116 sporadic and 18 familial; 77% Italian) and 90 Italian controls. The whole PINK1

  9. Early-onset Coronary Artery Disease: Clinical and Hereditary Aspects

    DEFF Research Database (Denmark)

    Christiansen, Morten Krogh

    2017-01-01

    ), and to characterize and quantify subclinical atherosclerosis in their relatives. Furthermore, the aim was to explore the impact of common genetic risk variants on the age of onset, familial clustering and disease severity. In study I, 143 patients with early-onset CAD were recruited from the Western Denmark Heart...

  10. Early-onset stargardt disease: phenotypic and genotypic characteristics

    NARCIS (Netherlands)

    Lambertus, S.; Huet, R.A.C. van; Bax, N.M.; Hoefsloot, L.H.; Cremers, F.P.M.; Boon, C.J.F.; Klevering, B.J.; Hoyng, C.B.

    2015-01-01

    OBJECTIVE: To describe the phenotype and genotype of patients with early-onset Stargardt disease. DESIGN: Retrospective cohort study. PARTICIPANTS: Fifty-one Stargardt patients with age at onset

  11. INFLAMMATORY BOWEL DISEASE WITH A VERY EARLY ONSET

    Directory of Open Access Journals (Sweden)

    E. A. Kornienko

    2016-01-01

    Full Text Available Inflammatory bowel disease (Crohn's disease and ulcerative colitis has a tendency to manifest at earlier age. In childhood (< 6 years of age it has an especially severe course and is characterized by high grade inflammation, predominantly in the colon, by complication and extra-intestinal autoimmune injury. At younger age, Crohn's disease and ulcerative colitis require more aggressive treatment with frequently poor results. From genetic point of view, monogenic mutations controlling the immune response are characteristic for these diseases with an early onset; therefore, they are frequently associated with primary immunodeficiency. This implies various immunologic deficits, such as breakdown of the epithelial barrier, phagocytic dysfunction and dysfunction of Т and В lymphocytes and regulatory Т cells. Depending on this, a number of primary immunodeficiencies are identified associated with monogenic mutations of more than 50 genes. There some age-related specific features at manifestation. Thus, defects in interleukin 10 and FOXP3 manifest in the first months of life, whereas severe combined immunodeficiencies and phagocytosis defects become evident somewhat later. Virtually all 24 children with very early onset of inflammatory bowel disease, whom we examined, had immunologic defects and one child had a XIAP gene mutation. After identification of a specific immunologic defect, one can understand the mechanism of the disease and suspect one or another genetic defect with subsequent reasonable assessment of mutations in candidate genes. Detection of immunologic and genetic defects in children with a very early onset of inflammatory bowel disease allows for choosing an adequate strategy of non-conventional treatment that may differ depending on the mechanism of the disease.

  12. Genetics Home Reference: inclusion body myopathy with early-onset Paget disease and frontotemporal dementia

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    ... Share: Email Facebook Twitter Home Health Conditions IBMPFD Inclusion body myopathy with early-onset Paget disease and ... Javascript to view the expand/collapse boxes. Description Inclusion body myopathy with early-onset Paget disease and ...

  13. Molecular genetics of early-onset Alzheimer's disease revisited.

    Science.gov (United States)

    Cacace, Rita; Sleegers, Kristel; Van Broeckhoven, Christine

    2016-06-01

    As the discovery of the Alzheimer's disease (AD) genes, APP, PSEN1, and PSEN2, in families with autosomal dominant early-onset AD (EOAD), gene discovery in familial EOAD came more or less to a standstill. Only 5% of EOAD patients are carrying a pathogenic mutation in one of the AD genes or a apolipoprotein E (APOE) risk allele ε4, most of EOAD patients remain unexplained. Here, we aimed at summarizing the current knowledge of EOAD genetics and its role in ongoing approaches to understand the biology of AD and disease symptomatology as well as developing new therapeutics. Next, we explored the possible molecular mechanisms that might underlie the missing genetic etiology of EOAD and discussed how the use of massive parallel sequencing technologies triggered novel gene discoveries. To conclude, we commented on the relevance of reinvestigating EOAD patients as a means to explore potential new avenues for translational research and therapeutic discoveries. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

  14. Early Onset Alzheimer’s Disease and Oxidative Stress

    Directory of Open Access Journals (Sweden)

    Marco Antonio Meraz-Ríos

    2014-01-01

    Full Text Available Alzheimer’s disease (AD is the most common cause of dementia in elderly adults. It is estimated that 10% of the world’s population aged more than 60–65 years could currently be affected by AD, and that in the next 20 years, there could be more than 30 million people affected by this pathology. One of the great challenges in this regard is that AD is not just a scientific problem; it is associated with major psychosocial and ethical dilemmas and has a negative impact on national economies. The neurodegenerative process that occurs in AD involves a specific nervous cell dysfunction, which leads to neuronal death. Mutations in APP, PS1, and PS2 genes are causes for early onset AD. Several animal models have demonstrated that alterations in these proteins are able to induce oxidative damage, which in turn favors the development of AD. This paper provides a review of many, although not all, of the mutations present in patients with familial Alzheimer’s disease and the association between some of these mutations with both oxidative damage and the development of the pathology.

  15. Early-onset Hirayama disease in a female

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    Matthias Baumann

    2017-01-01

    Full Text Available Objectives: Hirayama disease is a rare myelopathy, occurring predominantly in males with onset in the teens. Methods and results: Here, we report a young female patient who developed the first signs of Hirayama disease at 10.5 years of age. Prior to onset, she had experienced a growth spurt and grew about 8 cm. The disease progressed over 3 years and the typical clinical, electrophysiological, and neuroimaging signs of Hirayama disease were found. After this period and achievement of her final height, no further progression was noticed. Conclusions: This case highlights that pediatric neurologists should be aware of Hirayama disease, which can also occur in girls in early adolescence.

  16. Whole Exome Analysis of Early Onset Alzheimer’s Disease

    Science.gov (United States)

    2017-04-01

    Alzheimer’s Disease 5a. CONTRACT NUMBER W81XWH-12-1-0013 5b. GRANT NUMBER 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR( S ) Margaret A. Pericak-Vance, Ph.D...Gerald D. Schellenberg, Goldie S . Byrd, Jonathan L. Haines, Margaret A. Pericak-Vance, and the Alzheimer Disease Genetics Consortium. ABCA7 Frameshift...Alzheimer’s & Parkinson’s Diseases (AD/PD), Vienna, Austria, Mar 29-Apr 2, 2017: Cukier HN, Gross SP, Kunkle BW, Rolati S , Hamilton-Nelson KL, Whitehead PL

  17. Exercise and Early-Onset Alzheimer’s Disease: Theoretical Considerations

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    Astrid M. Hooghiemstra

    2012-04-01

    Full Text Available Background/Aims: Although studies show a negative relationship between physical activity and the risk for cognitive impairment and late-onset Alzheimer’s disease, studies concerning early-onset Alzheimer’s disease (EOAD are lacking. This review aims to justify the value of exercise interventions in EOAD by providing theoretical considerations that include neurobiological processes. Methods: A literature search on key words related to early-onset dementia, exercise, imaging, neurobiological mechanisms, and cognitive reserve was performed. Results/Conclusion: Brain regions and neurobiological processes contributing to the positive effects of exercise are affected in EOAD and, thus, provide theoretical support for exercise interventions in EOAD. Finally, we present the design of a randomized controlled trial currently being conducted in early-onset dementia patients.

  18. Estrogen use and early onset Alzheimer's disease: a population-based study

    NARCIS (Netherlands)

    A.J.C. Slooter (Arjen); J.B. Bronzova (Juliana); J.C.M. Witteman (Jacqueline); C.M. van Duijn (Cornelia); C. van Broeckhoven (Christine); A. Hofman (Albert)

    1999-01-01

    textabstractEstrogen use may be protective for Alzheimer's disease with late onset. However, the effects on early onset Alzheimer's disease are unclear. This issue was studied in a population based setting. For each female patient, a female control was matched on age (within 5

  19. Very early onset inflammatory bowel disease: Investigation of the IL-10 signaling pathway in Iranian children

    NARCIS (Netherlands)

    Nemati, Shahram; Teimourian, Shahram; Tabrizi, Mina; Najafi, Mehri; Dara, Naghi; Imanzadeh, Farid; Ahmadi, Mitra; Aghdam, Maryam Kazemi; Tavassoli, Mohmoud; Rohani, Pejman; Madani, Seyyed Ramin; de Boer, Martin; Kuijpers, T. W.; Roos, Dirk

    2017-01-01

    Background & aim: Comparing to adult inflammatory bowel disease (IBD), those with early onset manifestations have different features in terms of the underlying molecular pathology, the course of disease and the response to therapy. We investigated the IL-10 signaling pathway previously reported as

  20. GST polymorphisms and early-onset coronary artery disease in ...

    African Journals Online (AJOL)

    Dysfunctional detoxification enzymes are responsible for prolonged exposure to reactive molecules and can contribute to endothelial damage, an underlying factor in coronary artery disease (CAD). Objectives. We aimed to assess 2 common polymorphic variant isoforms in GSTM1 and GSTP1 of GST in young CAD patients ...

  1. Early onset of coronary artery disease after prenatal exposure to the Dutch famine

    NARCIS (Netherlands)

    Painter, Rebecca C.; de Rooij, Susanne R.; Bossuyt, Patrick M.; Simmers, Timothy A.; Osmond, Clive; Barker, David J.; Bleker, Otto P.; Roseboom, Tessa J.

    2006-01-01

    BACKGROUND: Limited evidence suggests that maternal undernutrition at the time of conception is associated with increased cardiovascular disease risk in adult offspring. OBJECTIVE: We investigated whether persons conceived during the Dutch famine of World War II had an early onset of coronary artery

  2. Widespread disruption of functional brain organization in early-onset Alzheimer's disease.

    Directory of Open Access Journals (Sweden)

    Sofie M Adriaanse

    Full Text Available Early-onset Alzheimer's disease (AD patients present a different clinical profile than late-onset AD patients. This can be partially explained by cortical atrophy, although brain organization might provide more insight. The aim of this study was to examine functional connectivity in early-onset and late-onset AD patients. Resting-state fMRI scans of 20 early-onset (<65 years old, 28 late-onset (≥65 years old AD patients and 15 "young" (<65 years old and 31 "old" (≥65 years old age-matched controls were available. Resting-state network-masks were used to create subject-specific maps. Group differences were examined using a non-parametric permutation test, accounting for gray-matter. Performance on five cognitive domains were used in a correlation analysis with functional connectivity in AD patients. Functional connectivity was not different in any of the RSNs when comparing the two control groups (young vs. old controls, which implies that there is no general effect of aging on functional connectivity. Functional connectivity in early-onset AD was lower in all networks compared to age-matched controls, where late-onset AD showed lower functional connectivity in the default-mode network. Functional connectivity was lower in early-onset compared to late-onset AD in auditory-, sensory-motor, dorsal-visual systems and the default mode network. Across patients, an association of functional connectivity of the default mode network was found with visuoconstruction. Functional connectivity of the right dorsal visual system was associated with attention across patients. In late-onset AD patients alone, higher functional connectivity of the sensory-motor system was associated with poorer memory performance. Functional brain organization was more widely disrupted in early-onset AD when compared to late-onset AD. This could possibly explain different clinical profiles, although more research into the relationship of functional connectivity and cognitive

  3. Parkinson's Disease Dementia

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    ... Find your local chapter Join our online community Parkinson's Disease Dementia Parkinson's disease dementia is an impairment ... disease. About Symptoms Diagnosis Causes & risks Treatments About Parkinson's disease dementia The brain changes caused by Parkinson's ...

  4. Parkinson's Disease Videos

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    Full Text Available ... the First Few Years with Parkinson's Expert Briefings: Pain in PD Expert Briefings: Parkinson's Disease: Financial, Legal ... Briefings: Complementary Approaches to Parkinson's Expert Briefings: Understanding Pain in Parkinson's Expert Briefings: The Parkinson's Pipeline 2011: ...

  5. Common variants at five new loci associated with early-onset inflammatory bowel disease.

    Science.gov (United States)

    Imielinski, Marcin; Baldassano, Robert N; Griffiths, Anne; Russell, Richard K; Annese, Vito; Dubinsky, Marla; Kugathasan, Subra; Bradfield, Jonathan P; Walters, Thomas D; Sleiman, Patrick; Kim, Cecilia E; Muise, Aleixo; Wang, Kai; Glessner, Joseph T; Saeed, Shehzad; Zhang, Haitao; Frackelton, Edward C; Hou, Cuiping; Flory, James H; Otieno, George; Chiavacci, Rosetta M; Grundmeier, Robert; Castro, Massimo; Latiano, Anna; Dallapiccola, Bruno; Stempak, Joanne; Abrams, Debra J; Taylor, Kent; McGovern, Dermot; Silber, Gary; Wrobel, Iwona; Quiros, Antonio; Barrett, Jeffrey C; Hansoul, Sarah; Nicolae, Dan L; Cho, Judy H; Duerr, Richard H; Rioux, John D; Brant, Steven R; Silverberg, Mark S; Taylor, Kent D; Barmuda, M Michael; Bitton, Alain; Dassopoulos, Themistocles; Datta, Lisa Wu; Green, Todd; Griffiths, Anne M; Kistner, Emily O; Murtha, Michael T; Regueiro, Miguel D; Rotter, Jerome I; Schumm, L Philip; Steinhart, A Hillary; Targan, Stephen R; Xavier, Ramnik J; Libioulle, Cécile; Sandor, Cynthia; Lathrop, Mark; Belaiche, Jacques; Dewit, Olivier; Gut, Ivo; Heath, Simon; Laukens, Debby; Mni, Myriam; Rutgeerts, Paul; Van Gossum, André; Zelenika, Diana; Franchimont, Denis; Hugot, J P; de Vos, Martine; Vermeire, Severine; Louis, Edouard; Cardon, Lon R; Anderson, Carl A; Drummond, Hazel; Nimmo, Elaine; Ahmad, Tariq; Prescott, Natalie J; Onnie, Clive M; Fisher, Sheila A; Marchini, Jonathan; Ghori, Jilur; Bumpstead, Suzannah; Gwillam, Rhian; Tremelling, Mark; Delukas, Panos; Mansfield, John; Jewell, Derek; Satsangi, Jack; Mathew, Christopher G; Parkes, Miles; Georges, Michel; Daly, Mark J; Heyman, Melvin B; Ferry, George D; Kirschner, Barbara; Lee, Jessica; Essers, Jonah; Grand, Richard; Stephens, Michael; Levine, Arie; Piccoli, David; Van Limbergen, John; Cucchiara, Salvatore; Monos, Dimitri S; Guthery, Stephen L; Denson, Lee; Wilson, David C; Grant, Straun F A; Daly, Mark; Silverberg, Mark S; Satsangi, Jack; Hakonarson, Hakon

    2009-12-01

    The inflammatory bowel diseases (IBD) Crohn's disease and ulcerative colitis are common causes of morbidity in children and young adults in the western world. Here we report the results of a genome-wide association study in early-onset IBD involving 3,426 affected individuals and 11,963 genetically matched controls recruited through international collaborations in Europe and North America, thereby extending the results from a previous study of 1,011 individuals with early-onset IBD. We have identified five new regions associated with early-onset IBD susceptibility, including 16p11 near the cytokine gene IL27 (rs8049439, P = 2.41 x 10(-9)), 22q12 (rs2412973, P = 1.55 x 10(-9)), 10q22 (rs1250550, P = 5.63 x 10(-9)), 2q37 (rs4676410, P = 3.64 x 10(-8)) and 19q13.11 (rs10500264, P = 4.26 x 10(-10)). Our scan also detected associations at 23 of 32 loci previously implicated in adult-onset Crohn's disease and at 8 of 17 loci implicated in adult-onset ulcerative colitis, highlighting the close pathogenetic relationship between early- and adult-onset IBD.

  6. Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism.

    Science.gov (United States)

    Podhajska, Agata; Musso, Alessandra; Trancikova, Alzbeta; Stafa, Klodjan; Moser, Roger; Sonnay, Sarah; Glauser, Liliane; Moore, Darren J

    2012-01-01

    Mutations in the ATP13A2 gene (PARK9) cause autosomal recessive, juvenile-onset Kufor-Rakeb syndrome (KRS), a neurodegenerative disease characterized by parkinsonism. KRS mutations produce truncated forms of ATP13A2 with impaired protein stability resulting in a loss-of-function. Recently, homozygous and heterozygous missense mutations in ATP13A2 have been identified in subjects with early-onset parkinsonism. The mechanism(s) by which missense mutations potentially cause parkinsonism are not understood at present. Here, we demonstrate that homozygous F182L, G504R and G877R missense mutations commonly impair the protein stability of ATP13A2 leading to its enhanced degradation by the proteasome. ATP13A2 normally localizes to endosomal and lysosomal membranes in neurons and the F182L and G504R mutations disrupt this vesicular localization and promote the mislocalization of ATP13A2 to the endoplasmic reticulum. Heterozygous T12M, G533R and A746T mutations do not obviously alter protein stability or subcellular localization but instead impair the ATPase activity of microsomal ATP13A2 whereas homozygous missense mutations disrupt the microsomal localization of ATP13A2. The overexpression of ATP13A2 missense mutants in SH-SY5Y neural cells does not compromise cellular viability suggesting that these mutant proteins lack intrinsic toxicity. However, the overexpression of wild-type ATP13A2 may impair neuronal integrity as it causes a trend of reduced neurite outgrowth of primary cortical neurons, whereas the majority of disease-associated missense mutations lack this ability. Finally, ATP13A2 overexpression sensitizes cortical neurons to neurite shortening induced by exposure to cadmium or nickel ions, supporting a functional interaction between ATP13A2 and heavy metals in post-mitotic neurons, whereas missense mutations influence this sensitizing effect. Collectively, our study provides support for common loss-of-function effects of homozygous and heterozygous missense

  7. Parkinson's Disease Videos

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    Full Text Available ... Expert Briefings: Anxiety in Parkinson's Disease Expert Briefings: Nutrition and Parkinson's Disease NY Nightly News with Chuck ... Briefings: What's in the Parkinson's Pipeline? Expert Briefings: Nutrition and Parkinson's Disease 2010 Expert Briefings: Legal Issues: ...

  8. Parkinson's Disease Videos

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    Full Text Available ... Parkinson's Disease: One Voice, Many Listeners Expert Briefings: Medical Therapies: What's in the Parkinson's Pipeline? Expert Briefings: Under-recognized Nonmotor Symptoms of Parkinson's Disease Expert Briefings: Gait, Balance and Falls in Parkinson's Disease Expert Briefings: Coping ...

  9. Parkinson's disease

    DEFF Research Database (Denmark)

    Astradsson, Arnar; Aziz, Tipu Z

    2015-01-01

    INTRODUCTION: The mean age of onset of Parkinson's disease is about 65 years, with a median time of 9 years between diagnosis and death. METHODS AND OUTCOMES: We conducted a systematic review and aimed to answer the following clinical question: What are the effects of fetal cell or stem cell......-derived therapy in people with Parkinson's disease? We searched: Medline, Embase, The Cochrane Library and other important databases up to September 2014 (Clinical Evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from...

  10. The role of monogenic disease in children with very early onset inflammatory bowel disease.

    Science.gov (United States)

    Kelsen, Judith R; Baldassano, Robert N

    2017-10-01

    Inflammatory bowel disease (IBD) is a multifactorial disease caused by dysregulated immune responses to commensal or pathogenic intestinal microbes, resulting in chronic intestinal inflammation. Patients diagnosed with IBD occurring before the age of 5 are a unique population, known as very early onset (VEO)-IBD and can be phenotypically and genetically distinct from older-onset IBD. We aim to review the clinical presentation of children with VEO-IBD and recent discoveries that point to genomic drivers of disease that may impact our therapeutic decisions. VEO-IBD is increasing in incidence and is associated with more severe disease, aggressive progression and poor response to most conventional therapies. This article will review the advances in sequencing technology that have led to identification of novel gene variants associated with disease and potentially new targeted therapeutic options. Children with VEO-IBD may present with a different phenotype and more severe disease than older children and adults. Identification of the causal gene or pathways, these children may allow for true precision medicine with targeted therapy and improved disease course.

  11. Parkinson's Disease Videos

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    Full Text Available ... Fatigue, Sleep Disorders and Parkinson's Disease Expert Briefings: What's in the Parkinson's Pipeline? Expert Briefings: Nutrition and Parkinson's Disease 2010 Expert Briefings: Legal Issues: Planning Ahead When You are Living with Parkinson's Expert ...

  12. Maintaining Intestinal Health: The Genetics and Immunology of Very Early Onset Inflammatory Bowel DiseaseSummary

    Directory of Open Access Journals (Sweden)

    Judith R. Kelsen

    2015-09-01

    Full Text Available Inflammatory bowel disease (IBD is a multifactoral disease caused by dysregulated immune responses to commensal or pathogenic microbes in the intestine, resulting in chronic intestinal inflammation. An emerging population of patients with IBD younger than 5 years of age represent a unique form of disease, termed very early onset IBD (VEO-IBD, which is phenotypically and genetically distinct from older-onset IBD. VEO-IBD is associated with increased disease severity, aggressive progression, and poor responsiveness to most conventional therapies. Further investigation into the causes and pathogenesis of VEO-IBD will help improve treatment strategies and may lead to a better understanding of the mechanisms that are essential to maintain intestinal health or provoke the development of targeted therapeutic strategies to limit intestinal inflammation and promote tissue repair. Here, we discuss the phenotypic nature of VEO-IBD, the recent identification of novel gene variants associated with disease, and functional immunologic studies interrogating the contribution of specific genetic variants to the development of chronic intestinal inflammation. Keywords: Inflammatory Bowel Disease, Very Early Onset Inflammatory Bowel Disease, Whole Exome Sequencing, Mucosal Immunology

  13. Parkinson's Disease

    Science.gov (United States)

    ... a long and relatively healthy life. What Causes Parkinson's Disease? In the very deep parts of the brain, there is a collection of nerve cells that help control movement, known as the basal ganglia (say: BAY-sul GAN-glee-ah). In a ...

  14. GATA2 is associated with familial early-onset coronary artery disease.

    Directory of Open Access Journals (Sweden)

    Jessica J Connelly

    2006-08-01

    Full Text Available The transcription factor GATA2 plays an essential role in the establishment and maintenance of adult hematopoiesis. It is expressed in hematopoietic stem cells, as well as the cells that make up the aortic vasculature, namely aortic endothelial cells and smooth muscle cells. We have shown that GATA2 expression is predictive of location within the thoracic aorta; location is suggested to be a surrogate for disease susceptibility. The GATA2 gene maps beneath the Chromosome 3q linkage peak from our family-based sample set (GENECARD study of early-onset coronary artery disease. Given these observations, we investigated the relationship of several known and novel polymorphisms within GATA2 to coronary artery disease. We identified five single nucleotide polymorphisms that were significantly associated with early-onset coronary artery disease in GENECARD. These results were validated by identifying significant association of two of these single nucleotide polymorphisms in an independent case-control sample set that was phenotypically similar to the GENECARD families. These observations identify GATA2 as a novel susceptibility gene for coronary artery disease and suggest that the study of this transcription factor and its downstream targets may uncover a regulatory network important for coronary artery disease inheritance.

  15. Parkinson's Disease Videos

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  17. [A case of Neuro-Behçet's disease with early onset of bipolar mood disorder].

    Science.gov (United States)

    Nakano, Yuko; Hatanaka, Yuki; Ikebuchi, Emi; Shimizu, Teruo; Nanko, Shinichiro; Utsumii, Takeshi

    2004-01-01

    In this report, we describe a case of Neuro-Behçet's disease with early onset of bipolar mood disorder. A 53-year-old man with neuropathy including dysphasia and dyslalia developed bipolar mood disorder with anxiety, agitation, depressive mood, talkativeness, hyperkinesias, and appetite rise, and soon exhibited severe personality deterioration. Oral aphthae, cell proliferation and elevated IL-6 levels in spinal fluid, and the patient's clinical downhill course with remission and relapse in spite of good reaction to steroid preparation indicated the possibility of Neuro-Behçet's disease. Brain MRI showed clear swelling of the brain stem area, especially in the pons, in the active phase with low signal in T1-weighted images contrasting with clear high signal in T2-weighted images and FLAIR. At the time of remission, atrophy of the brain stem was shown. These findings were consistent with the view reported in recent years concerning the brain image of Neuro-Behçet's disease, which seemed to be useful for the differential diagnosis. This case manifested two outstanding clinical features. First, it showed bipolar mood swing or mixed state distinguishable from disinhibition or euphoria in deteriorated personality, which is common in this condition. A clear bipolar mood disorder has not been described until now in Neuro-Behçet's disease. Second, subclinical dysthymia or hypomanic phase occurred before clear onset of the disease. In Neuro-Behçet's disease, it is currently considered that psychiatric symptoms may appear in the early stage, but there is controversy as to whether they can precede the other symptoms. Our case indicated very early onset of psychiatric symptoms in this condition.

  18. Completed suicide in an autopsy-confirmed case of early onset Alzheimer's disease.

    Science.gov (United States)

    Hartzell, Jennifer Wiener; Geary, Richard; Gyure, Kymberly; Chivukula, Venkata Ravi; Haut, Marc W

    2018-04-01

    We report a case of a 57-year-old male with clinically diagnosed and autopsy-confirmed early onset Alzheimer's disease who completed suicide by gunshot wound to the chest. This case has several unique aspects that have not been discussed in previous case reports of completed suicide in Alzheimer's disease. In particular, our patient's death was highly planned with successful compensation for his cognitive deficits. After all firearms had been removed from the home as a safety precaution, he obtained a new weapon, hid it and left himself cues to find and use it. The case is discussed in the context of literature differentiating the neural circuitry propagating impulsive versus planned suicidal acts.

  19. Severe agitation in severe early-onset Alzheimer’s disease resolves with ECT

    Directory of Open Access Journals (Sweden)

    Aksay SS

    2014-11-01

    Full Text Available Suna Su Aksay, Lucrezia Hausner, Lutz Frölich, Alexander Sartorius Department of Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany Abstract: Dementia-related behavioral disturbances are mostly treated with antipsychotics; however, the observed beneficial effects are modest and the risk of serious adverse effects high. We report the case of a 57-year-old woman with severe early-onset Alzheimer’s disease and severe agitation, whom we treated with electroconvulsive therapy (ECT. A significant clinical improvement was achieved over eight ECT sessions, which were tolerated well without cognitive worsening, and lasted approximately 3 months. Our case demonstrates the safe and effective use of ECT in pharmacotherapy-resistant severe agitation in Alzheimer’s disease. The risk–benefit profile of ECT for dementia-related agitation should be further investigated in clinical trials. Keywords: dementia, electroconvulsive therapy, cognition, emotional distress, disinhibition.

  20. Early-Onset Creutzfeldt-Jakob Disease Mimicking Immune-Mediated Encephalitis

    Directory of Open Access Journals (Sweden)

    Wietse A. Wiels

    2018-04-01

    Full Text Available ObjectivesThe objective of this study is to explore the clinical, radiological, and pathological manifestations of a rare subtype of prion disease and their implication for differential diagnosis in case of an early onset neuropsychiatric deterioration.MethodsWe discuss a patients’ clinical history, as well as the string of investigations and symptomatological evolution that finally led to a pathological diagnosis.ResultsOur patient had the extremely rare VV1 type sporadic Creutzfeldt-Jakob disease (sCJD. We explain the differential diagnosis of progressive encephalomyelitis with rigidity and myoclonus and its implications for treatment.ConclusionsCJD, especially the VV1 subtype, can present at an early age with an insidious psychiatric onset. Classical findings of prion disease—14-3-3 protein, PSWC on electroencephalography, and magnetic resonance imaging patterns—are not always present. The presence of neural autoantibodies does not always implicate pathogenicity in the presence of other neurological/neurodegenerative conditions.

  1. Clinical, genetic, and neuroimaging features of Early Onset Alzheimer Disease: the challenges of diagnosis and treatment.

    Science.gov (United States)

    Alberici, Antonella; Benussi, Alberto; Premi, Enrico; Borroni, Barbara; Padovani, Alessandro

    2014-01-01

    Early Onset Alzheimer Disease (EOAD) is a rare condition, frequently associated with genetic causes. The dissemination of genetic testing along with biomarker determinations have prompted a wider recognition of EOAD in experienced clinical settings. However, despite the great efforts in establishing the contribution of causative genes to EOAD, atypical disease presentation and clinical features still makes its diagnosis and treatment a challenge for the clinicians. This review aims to provide an extensive evaluation of literature data on EOAD, in order to improve understanding and knowledge of EOAD, underscore its significant impact on patients and their caregivers and influence public policies. This would be crucial to define the urgency of evidence-based treatment approaches.

  2. Parkinson's Disease Videos

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  10. Maintaining intestinal health: the genetics and immunology of very early onset inflammatory bowel disease.

    Science.gov (United States)

    Kelsen, Judith R; Baldassano, Robert N; Artis, David; Sonnenberg, Gregory F

    2015-09-01

    Inflammatory bowel disease (IBD) is a multifactoral disease caused by dysregulated immune responses to commensal or pathogenic microbes in the intestine, resulting in chronic intestinal inflammation. An emerging population of patients with IBD occurring before the age of 5 represent a unique form of disease, termed Very Early Onset (VEO)-IBD, which is phenotypically- and genetically-distinct from older-onset IBD. VEO-IBD is associated with increased disease severity, aggressive progression and poor responsiveness to most conventional therapies. Further investigation into the causes and pathogenesis of VEO-IBD will help improve treatment strategies, and may lead to a better understanding of the mechanisms that are essential to maintain intestinal health or provoke the development of targeted therapeutic strategies to limit intestinal disease. Here we discuss the phenotypic nature of VEO-IBD, the recent identification of novel gene variants associated with disease, and functional immunologic studies interrogating the contribution of specific genetic variants to the development of chronic intestinal inflammation.

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  19. Parkinson's Disease Videos

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  20. Early-onset Alzheimer's disease: nonamnestic subtypes and type 2 AD.

    Science.gov (United States)

    Mendez, Mario F

    2012-11-01

    Patients with Alzheimer's disease (AD), the most prevalent neurodegenerative dementia, are usually elderly; however, ∼4-5% develop early-onset AD (EOAD) with onset before age 65. Most EOAD is sporadic, but about 5% of patients with EOAD have an autosomal dominant mutation such as Presenilin 1, Presenilin 2, or alterations in the Amyloid Precursor Protein gene. Although most Alzheimer's research has concentrated on older, late-onset AD (LOAD), there is much recent interest and research in EOAD. These recent studies indicate that EOAD is a heterogeneous disorder with significant differences from LOAD. From 22-64% of EOAD patients have a predominant nonamnestic syndrome presenting with deficits in language, visuospatial abilities, praxis, or other non-memory cognition. These nonamnestic patients may differ in several ways from the usual memory or amnestic patients. Patients with nonamnestic EOAD compared to typical amnestic AD have a more aggressive course, lack the apolipoprotein Eɛ4 (APOE ɛ4) susceptibility gene for AD, and have a focus and early involvement of non-hippocampal areas of brain, particularly parietal neocortex. These differences in the EOAD subtypes indicate differences in the underlying amyloid cascade, the prevailing pathophysiological theory for the development of AD. Together the results of recent studies suggest that nonamnestic subtypes of EOAD constitute a Type 2 AD distinct from the usual, typical disorder. In sum, the study of EOAD can reveal much about the clinical heterogeneity, predisposing factors, and neurobiology of this disease. Copyright © 2012 IMSS. Published by Elsevier Inc. All rights reserved.

  1. SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease.

    Science.gov (United States)

    Nicolas, G; Charbonnier, C; Wallon, D; Quenez, O; Bellenguez, C; Grenier-Boley, B; Rousseau, S; Richard, A-C; Rovelet-Lecrux, A; Le Guennec, K; Bacq, D; Garnier, J-G; Olaso, R; Boland, A; Meyer, V; Deleuze, J-F; Amouyel, P; Munter, H M; Bourque, G; Lathrop, M; Frebourg, T; Redon, R; Letenneur, L; Dartigues, J-F; Génin, E; Lambert, J-C; Hannequin, D; Campion, D

    2016-06-01

    The SORL1 protein plays a protective role against the secretion of the amyloid β peptide, a key event in the pathogeny of Alzheimer's disease. We assessed the impact of SORL1 rare variants in early-onset Alzheimer's disease (EOAD) in a case-control setting. We conducted a whole exome analysis among 484 French EOAD patients and 498 ethnically matched controls. After collapsing rare variants (minor allele frequency ≤1%), we detected an enrichment of disruptive and predicted damaging missense SORL1 variants in cases (odds radio (OR)=5.03, 95% confidence interval (CI)=(2.02-14.99), P=7.49.10(-5)). This enrichment was even stronger when restricting the analysis to the 205 cases with a positive family history (OR=8.86, 95% CI=(3.35-27.31), P=3.82.10(-7)). We conclude that predicted damaging rare SORL1 variants are a strong risk factor for EOAD and that the association signal is mainly driven by cases with positive family history.

  2. High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease.

    Science.gov (United States)

    Pottier, C; Hannequin, D; Coutant, S; Rovelet-Lecrux, A; Wallon, D; Rousseau, S; Legallic, S; Paquet, C; Bombois, S; Pariente, J; Thomas-Anterion, C; Michon, A; Croisile, B; Etcharry-Bouyx, F; Berr, C; Dartigues, J-F; Amouyel, P; Dauchel, H; Boutoleau-Bretonnière, C; Thauvin, C; Frebourg, T; Lambert, J-C; Campion, D

    2012-09-01

    Performing exome sequencing in 14 autosomal dominant early-onset Alzheimer disease (ADEOAD) index cases without mutation on known genes (amyloid precursor protein (APP), presenilin1 (PSEN1) and presenilin2 (PSEN2)), we found that in five patients, the SORL1 gene harbored unknown nonsense (n=1) or missense (n=4) mutations. These mutations were not retrieved in 1500 controls of same ethnic origin. In a replication sample, including 15 ADEOAD cases, 2 unknown non-synonymous mutations (1 missense, 1 nonsense) were retrieved, thus yielding to a total of 7/29 unknown mutations in the combined sample. Using in silico predictions, we conclude that these seven private mutations are likely to have a pathogenic effect. SORL1 encodes the Sortilin-related receptor LR11/SorLA, a protein involved in the control of amyloid beta peptide production. Our results suggest that besides the involvement of the APP and PSEN genes, further genetic heterogeneity, involving another gene of the same pathway is present in ADEOAD.

  3. Successful Object Encoding Induces Increased Directed Connectivity in Presymptomatic Early-Onset Alzheimer’s Disease

    Science.gov (United States)

    Ochoa, John Fredy; Alonso, Joan Francesc; Duque, Jon Edinson; Tobón, Carlos Andrés; Mañanas, Miguel Angel; Lopera, Francisco; Hernández, Alher Mauricio

    2016-01-01

    Background: Recent studies report increases in neural activity in brain regions critical to episodic memory at preclinical stages of Alzheimer’s disease (AD). Although electroencephalography (EEG) is widely used in AD studies, given its non-invasiveness and low cost, there is a need to translate the findings in other neuroimaging methods to EEG. Objective: To examine how the previous findings using functional magnetic resonance imaging (fMRI) at preclinical stage in presenilin-1 E280A mutation carriers could be assessed and extended, using EEG and a connectivity approach. Methods: EEG signals were acquired during resting and encoding in 30 normal cognitive young subjects, from an autosomal dominant early-onset AD kindred from Antioquia, Colombia. Regions of the brain previously reported as hyperactive were used for connectivity analysis. Results: Mutation carriers exhibited increasing connectivity at analyzed regions. Among them, the right precuneus exhibited the highest changes in connectivity. Conclusion: Increased connectivity in hyperactive cerebral regions is seen in individuals, genetically-determined to develop AD, at preclinical stage. The use of a connectivity approach and a widely available neuroimaging technique opens the possibility to increase the use of EEG in early detection of preclinical AD. PMID:27792014

  4. Molecular Diagnostics of Copper-Transporting Protein Mutations Allows Early Onset Individual Therapy of Menkes Disease.

    Science.gov (United States)

    Králík, L; Flachsová, E; Hansíková, H; Saudek, V; Zeman, J; Martásek, P

    2017-01-01

    Menkes disease is a severe X-linked recessive disorder caused by a defect in the ATP7A gene, which encodes a membrane copper-transporting ATPase. Deficient activity of the ATP7A protein results in decreased intestinal absorption of copper, low copper level in serum and defective distribution of copper in tissues. The clinical symptoms are caused by decreased activities of copper-dependent enzymes and include neurodegeneration, connective tissue disorders, arterial changes and hair abnormalities. Without therapy, the disease is fatal in early infancy. Rapid diagnosis of Menkes disease and early start of copper therapy is critical for the effectiveness of treatment. We report a molecular biology-based strategy that allows early diagnosis of copper transport defects and implementation of individual therapies before the full development of pathological symptoms. Low serum copper and decreased activity of copperdependent mitochondrial cytochrome c oxidase in isolated platelets found in three patients indicated a possibility of functional defects in copper-transporting proteins, especially in the ATPA7 protein, a copper- transporting P-type ATPase. Rapid mutational screening of the ATP7A gene using high-resolution melting analysis of DNA indicated presence of mutations in the patients. Molecular investigation for mutations in the ATP7A gene revealed three nonsense mutations: c.2170C>T (p.Gln724Ter); c.3745G>T (p.Glu1249Ter); and c.3862C>T (p.Gln1288Ter). The mutation c.3745G>T (p.Glu1249Ter) has not been identified previously. Molecular analysis of the ATOX1 gene as a possible modulating factor of Menkes disease did not reveal presence of pathogenic mutations. Molecular diagnostics allowed early onset of individual therapies, adequate genetic counselling and prenatal diagnosis in the affected families.

  5. Parkinson disease - discharge

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    Your doctor has told you that you have Parkinson disease . This disease affects the brain and leads ... have you take different medicines to treat your Parkinson disease and many of the problems that may ...

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  8. The prevention of early-onset neonatal group B streptococcal disease.

    Science.gov (United States)

    Money, Deborah; Allen, Victoria M

    2013-10-01

    To review the evidence in the literature and to provide recommendations on the management of pregnant women in labour for the prevention of early-onset neonatal group B streptococcal disease. The key revisions in this updated guideline include changed recommendations for regimens for antibiotic prophylaxis, susceptibility testing, and management of women with pre-labour rupture of membranes. Maternal outcomes evaluated included exposure to antibiotics in pregnancy and labour and complications related to antibiotic use. Neonatal outcomes of rates of early-onset group B streptococcal infections are evaluated. Published literature was retrieved through searches of MEDLINE, CINAHL, and The Cochrane Library from January 1980 to July 2012 using appropriate controlled vocabulary and key words (group B streptococcus, antibiotic therapy, infection, prevention). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies. There were no date or language restrictions. Searches were updated on a regular basis and incorporated in the guideline to May 2013. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table 1). The recommendations in this guideline are designed to help clinicians identify and manage pregnancies at risk for neonatal group B streptococcal disease to optimize maternal and perinatal outcomes. No cost-benefit analysis is provided. There is good evidence based on randomized control trial data that in women with pre-labour rupture of membranes at term who are colonized with group B streptococcus, rates of neonatal infection are

  9. Precuneus atrophy in early-onset Alzheimer's disease: a morphometric structural MRI study

    International Nuclear Information System (INIS)

    Karas, Giorgos; Scheltens, Philip; Jones, Bethany; Rombouts, Serge; Schijndel, Ronald van; Klein, Martin; Flier, Wiesje van der; Vrenken, Hugo; Barkhof, Frederik

    2007-01-01

    Alzheimer's disease (AD) usually first presents in elderly patients, but may also develop at an earlier age. Patients with an early age at onset tend to present with complaints other than memory impairment, such as visuospatial problems or apraxia, which may reflect a different distribution of cortical involvement. In this study we set out to investigate whether age at onset in patients with AD determines the pattern of atrophy on cerebral MRI scans. We examined 55 patients with AD over a wide age range and analyzed their 3-D T1-weighted structural MRI scans in standard space using voxel-based morphometry (VBM). Regression analysis was performed to estimate loss of grey matter as a function of age, corrected for mini-mental state examination (MMSE) scores and sex. The VBM analyses identified multiple areas (including the temporal and parietal lobes), showing more atrophy with advancing age. By contrast, a younger age at onset was found to be associated with lower grey matter density in the precuneus. Regionalized volumetric analysis of this region confirmed the existence of disproportionate atrophy in the precuneus in patients with early-onset AD. Application of a multivariate model with precuneus grey matter density as input, showed that precuneal and hippocampal atrophy are independent from each other. Additionally, we found that a smaller precuneus is associated with impaired visuospatial functioning. Our findings support the notion that age at onset modulates the distribution of cortical involvement, and that disproportionate precuneus atrophy is more prominent in patients with a younger age of onset. (orig.)

  10. Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient.

    Science.gov (United States)

    Le Guennec, Kilan; Tubeuf, Hélène; Hannequin, Didier; Wallon, David; Quenez, Olivier; Rousseau, Stéphane; Richard, Anne-Claire; Deleuze, Jean-François; Boland, Anne; Frebourg, Thierry; Gaildrat, Pascaline; Campion, Dominique; Martins, Alexandra; Nicolas, Gaël

    2018-01-01

    Heterozygous SORL1 protein truncating variants (PTV) are a strong risk factor for early-onset Alzheimer's disease (EOAD). In case control studies performed at the genome-wide level, PTV definition is usually straightforward. Regarding splice site variants, only those affecting canonical sites are typically included. Some other variants, not annotated as PTV, could, however, affect splicing and hence result in a loss of SORL1 function. We took advantage of the whole exome sequencing data from the 9/484 patients with a previously reported SORL1 PTV in the French EOAD series and searched for a second variant which may affect splicing and eventually result in more than 50% loss of function overall. We found that one patient, known to carry a variant predicted to disrupt the canonical 5' splice site of exon 8, also carried a second novel intronic variant predicted to affect SORL1 splicing of exon 29. Segregation analysis showed that the second variant was located in trans from the known PTV. We performed ex vivo minigene splicing assays and showed that both variants led to the generation of transcripts containing a premature stop codon. This is therefore the first evidence of a human carrying biallelic SORL1 PTV. This patient had a family history of dementia in both maternal and paternal lineages with later ages of onset than the proband himself. However, his 55 years age at onset was in the same ranges as previously published SORL1 heterozygous PTV carriers. This suggests that biallelic loss of SORL1 function is an extremely rare event that was not associated with a dramatically earlier age at onset than heterozygous SORL1 loss-of-function variant carriers, in this single patient.

  11. Low Prevalence and Clinical Effect of Vascular Risk Factors in Early-Onset Alzheimer's Disease.

    Science.gov (United States)

    Chen, Yaohua; Sillaire, Adeline Rollin; Dallongeville, Jean; Skrobala, Emilie; Wallon, David; Dubois, Bruno; Hannequin, Didier; Pasquier, Florence

    2017-01-01

    Determinants of early-onset Alzheimer's disease (EOAD) are not well known. In late-onset AD, vascular risk factors (VRFs) are associated with earlier clinical manifestation. The objective of this study was to assess the putative association between VRFs and EOAD. We studied participants with dementia meeting criteria for EOAD (recruited into the French CoMAJ prospective cohort study from 1 June 2009 to 28 February 2014) and age-, gender-matched controls (ratio 1:3, drawn randomly from the French MONA-LISA population-based survey between 2005 and 2007). Demographic data, VRFs, comorbidities, treatments, and APOE genotypes were compared in multivariable logistic regression analyses. We studied 102 participants with dementia (mean±standard deviation age: 59.5±3.8; women: 59.8%) and 306 controls. Compared with controls, EOAD participants had spent less time in formal education (9.9±2.9 versus 11.7±3.8 y; p < 0.0001), were less likely to be regular alcohol consumers (p < 0.0001), had a lower body mass index (-2 kg/m2; p < 0.0004), and a lower mean systolic blood pressure (-6.2 mmHg; p = 0.0036). The prevalence of APOE ɛ4 allele was higher in participants with dementia than in controls (50% versus 29.4%; p = 0.0002), as was the prevalence of depression (48% versus 32%; p < 0.001). Similar results were observed in multivariable analysis. Compared with EOAD participants lacking VRFs, EOAD participants with at least one VRF had a higher prevalence of depression (29.6% versus 53.3%, respectively; p = 0.03). The prevalence of VRFs is not elevated in EOAD patients (in contrast to older AD patients). Extensive genetic testing should be considered more frequently in the context of EOAD.

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  5. Parkinson's Disease Videos

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  6. Parkinson's Disease Videos

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  7. Parkinson's Disease Videos

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  15. Parkinson's Disease Videos

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  16. Parkinson's Disease Videos

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  17. Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.

    Science.gov (United States)

    De Roeck, Arne; Van den Bossche, Tobi; van der Zee, Julie; Verheijen, Jan; De Coster, Wouter; Van Dongen, Jasper; Dillen, Lubina; Baradaran-Heravi, Yalda; Heeman, Bavo; Sanchez-Valle, Raquel; Lladó, Albert; Nacmias, Benedetta; Sorbi, Sandro; Gelpi, Ellen; Grau-Rivera, Oriol; Gómez-Tortosa, Estrella; Pastor, Pau; Ortega-Cubero, Sara; Pastor, Maria A; Graff, Caroline; Thonberg, Håkan; Benussi, Luisa; Ghidoni, Roberta; Binetti, Giuliano; de Mendonça, Alexandre; Martins, Madalena; Borroni, Barbara; Padovani, Alessandro; Almeida, Maria Rosário; Santana, Isabel; Diehl-Schmid, Janine; Alexopoulos, Panagiotis; Clarimon, Jordi; Lleó, Alberto; Fortea, Juan; Tsolaki, Magda; Koutroumani, Maria; Matěj, Radoslav; Rohan, Zdenek; De Deyn, Peter; Engelborghs, Sebastiaan; Cras, Patrick; Van Broeckhoven, Christine; Sleegers, Kristel

    2017-09-01

    Premature termination codon (PTC) mutations in the ATP-Binding Cassette, Sub-Family A, Member 7 gene (ABCA7) have recently been identified as intermediate-to-high penetrant risk factor for late-onset Alzheimer's disease (LOAD). High variability, however, is observed in downstream ABCA7 mRNA and protein expression, disease penetrance, and onset age, indicative of unknown modifying factors. Here, we investigated the prevalence and disease penetrance of ABCA7 PTC mutations in a large early onset AD (EOAD)-control cohort, and examined the effect on transcript level with comprehensive third-generation long-read sequencing. We characterized the ABCA7 coding sequence with next-generation sequencing in 928 EOAD patients and 980 matched control individuals. With MetaSKAT rare variant association analysis, we observed a fivefold enrichment (p = 0.0004) of PTC mutations in EOAD patients (3%) versus controls (0.6%). Ten novel PTC mutations were only observed in patients, and PTC mutation carriers in general had an increased familial AD load. In addition, we observed nominal risk reducing trends for three common coding variants. Seven PTC mutations were further analyzed using targeted long-read cDNA sequencing on an Oxford Nanopore MinION platform. PTC-containing transcripts for each investigated PTC mutation were observed at varying proportion (5-41% of the total read count), implying incomplete nonsense-mediated mRNA decay (NMD). Furthermore, we distinguished and phased several previously unknown alternative splicing events (up to 30% of transcripts). In conjunction with PTC mutations, several of these novel ABCA7 isoforms have the potential to rescue deleterious PTC effects. In conclusion, ABCA7 PTC mutations play a substantial role in EOAD, warranting genetic screening of ABCA7 in genetically unexplained patients. Long-read cDNA sequencing revealed both varying degrees of NMD and transcript-modifying events, which may influence ABCA7 dosage, disease severity, and may

  18. Parkinson's Disease Videos

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  19. Parkinson's Disease Videos

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  20. Parkinson's Disease Videos

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  1. Serum Levels of Platelet Released CD40 Ligand Are Increased in Early Onset Occlusive Carotid Artery Disease

    Directory of Open Access Journals (Sweden)

    József Balla

    2006-01-01

    Full Text Available Objective: Soluble CD40 ligand (sCD40L has been suggested as a key mediator between inflammation and atherosclerosis, and the CD40-CD40L interaction has a role in atherosclerotic lesion progression. We evaluated if platelet released serum sCD40L and sCD40 levels differ between patients with early onset occlusive carotid artery disease and age-matched controls.

  2. Parkinson's Disease Videos

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  3. Parkinson's Disease Videos

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  4. Parkinson's Disease Videos

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  5. Parkinson's Disease Videos

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    Full Text Available ... Nonmotor Symptoms of Parkinson's Disease Expert Briefings: Gait, Balance and Falls in Parkinson's Disease Expert Briefings: Coping ... MAPC - Parkinson- Pasion, Positivismo y Participacion” CareMAP: Balancing Life and Caregiving CareMAP: Travel and Transportation: Part 1 ...

  6. Parkinson's Disease Videos

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    Full Text Available ... Nonmotor Symptoms of Parkinson's Disease Expert Briefings: Gait, Balance and Falls in Parkinson's Disease Expert Briefings: Coping ... Expert Briefings: Nutrition and Parkinson's CareMAP: End-of-Life Care CareMAP: Thinking Changes: Part 1 Ask the ...

  7. Parkinson's Disease Videos

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    Full Text Available ... Nonmotor Symptoms of Parkinson's Disease Expert Briefings: Gait, Balance and Falls in Parkinson's Disease Expert Briefings: Coping ... How Does Speech Therapy Help Parkinson's Patients? CareMAP: Life Beyond This Life CareMAP: El Vestirse What Are ...

  8. Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport.

    Science.gov (United States)

    Kunkle, Brian W; Vardarajan, Badri N; Naj, Adam C; Whitehead, Patrice L; Rolati, Sophie; Slifer, Susan; Carney, Regina M; Cuccaro, Michael L; Vance, Jeffery M; Gilbert, John R; Wang, Li-San; Farrer, Lindsay A; Reitz, Christiane; Haines, Jonathan L; Beecham, Gary W; Martin, Eden R; Schellenberg, Gerard D; Mayeux, Richard P; Pericak-Vance, Margaret A

    2017-09-01

    Mutations in APP, PSEN1, and PSEN2 lead to early-onset Alzheimer disease (EOAD) but account for only approximately 11% of EOAD overall, leaving most of the genetic risk for the most severe form of Alzheimer disease unexplained. This extreme phenotype likely harbors highly penetrant risk variants, making it primed for discovery of novel risk genes and pathways for AD. To search for rare variants contributing to the risk for EOAD. In this case-control study, whole-exome sequencing (WES) was performed in 51 non-Hispanic white (NHW) patients with EOAD (age at onset 65 years) from the Alzheimer's Disease Genetics Consortium. The study was conducted from January 21, 2013, to October 13, 2016. Alzheimer disease diagnosed according to standard National Institute of Neurological and Communicative Disorders and Stroke and the Alzheimer Disease and Related Disorders Association criteria. Association between Alzheimer disease and genetic variants and genes was measured using logistic regression and sequence kernel association test-optimal gene tests, respectively. Of the 1524 NHW patients with EOAD, 765 (50.2%) were women and mean (SD) age was 60.0 (4.9) years; of the 7046 NHW patients with LOAD, 4171 (59.2%) were women and mean (SD) age was 77.4 (8.6) years; and of the 7001 NHW controls, 4215 (60.2%) were women and mean (SD) age was 77.4 (8.6) years. The gene PSD2, for which multiple unrelated NHW cases had rare missense variants, was significantly associated with EOAD (P = 2.05 × 10-6; Bonferroni-corrected P value [BP] = 1.3 × 10-3) and LOAD (P = 6.22 × 10-6; BP = 4.1 × 10-3). A missense variant in TCIRG1, present in a NHW patient and segregating in 3 cases of a Hispanic family, was more frequent in EOAD cases (odds ratio [OR], 2.13; 95% CI, 0.99-4.55; P = .06; BP = 0.413), and significantly associated with LOAD (OR, 2.23; 95% CI, 1.37-3.62; P = 7.2 × 10-4; BP = 5.0 × 10-3). A missense variant in the LOAD risk

  9. Parkinson's Disease Videos

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    Full Text Available ... Around: Transportation and Travel with PD Expert Briefings: Sleep and Parkinson's Nurse: Webinars: Nursing Solutions: Recognizing the ... Communication and the PD Partnership Expert Briefings: Fatigue, Sleep Disorders and Parkinson's Disease Expert Briefings: What's in ...

  10. Parkinson's Disease Videos

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    Full Text Available ... PTA, NPF - National Parkinson Foundation CareMAP: Managing Caregiver Stress CareMAP: End-of-Life ... Is the Relationship Between Depression and Parkinson's Disease? What Are the ...

  11. Parkinson's Disease Videos

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  12. Parkinson's Disease Videos

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  13. Parkinson's Disease Videos

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  14. Parkinson's Disease Videos

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  17. Parkinson's Disease Videos

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  19. Parkinson's Disease Videos

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  20. Parkinson's Disease Videos

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    Full Text Available ... en General, Parte 1 Expert Briefings: Apathy or Depression: Which One Is It? Expert Briefings: What's in ... Expert Briefings: A Closer Look at Anxiety and Depression in Parkinson's Disease Expert Briefings: Driving and Parkinson's: ...

  1. Parkinson's Disease Videos

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  5. Parkinson's Disease Videos

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  6. Parkinson's Disease Videos

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  7. Parkinson's Disease Videos

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  8. Parkinson's Disease Videos

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  9. Parkinson's Disease Videos

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  10. Parkinson's Disease Videos

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  11. Parkinson's Disease Videos

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  13. Parkinson's Disease Videos

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  14. Parkinson's Disease Videos

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  15. Parkinson's Disease Videos

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  16. Parkinson's Disease Videos

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  17. Parkinson's Disease Videos

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  18. Parkinson's Disease Videos

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  19. Four Cases of Parkinson Disease Diagnosed During the Postpartum Period.

    Science.gov (United States)

    Maltête, David; Grangeon, Lou; Le Goff, Floriane; Ozel, Gulden; Fetter, Damien; Ahtoy, Patrick; Temgoua, Olivier; Rouillé, Audrey; Lefaucheur, Romain

    2017-07-01

    There is little experience with the effect of pregnancy on Parkinson disease because the number of women with Parkinson disease who are of childbearing age is small. We report four cases beginning during the postpartum period and discuss the potential contribution of different factors that may influence the occurrence of Parkinson disease in this time period. Four women aged 29-35 years developed arm tremor, shoulder pain, dizziness, or decreased dexterity of the hand in the first few days or months after childbirth. They were initially diagnosed with postpartum depression or psychogenic parkinsonism. Finally, dopamine transporter imaging confirmed the diagnosis of young-onset Parkinson disease. Early-onset Parkinson disease may present in postpartum women. In women with atypical motor symptoms in addition to depression, this diagnosis should be considered.

  20. Parkinson's Disease Videos

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  1. Parkinson's Disease Videos

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    Full Text Available ... progresión del Parkinson? How Can Falls Be Prevented? Expert Briefings: Nutrition and Parkinson's Ask the Helpline: Why Does Caregiving Change from Day to Day? How Does Parkinson's Disease Affect the Urinary System? NPF Caregiver Summit 2016: Tools For Family Caregivers: ...

  2. Parkinson's Disease Videos

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  3. Parkinson's Disease Videos

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    Full Text Available ... the entire Parkinson's community. Learn more Get Involved Moving Day Walk Parkinson's Champions Create Your Own Fundraiser Advocate With ... 2 How Can Falls Be Prevented? Why We Walk at Moving Day OHSU - Parkinson's Disease: Managing Depression, Anxiety & Psychosis ...

  4. Parkinson's disease and anxiety

    OpenAIRE

    Walsh, K; Bennett, G

    2001-01-01

    There has been a recent surge of interest in the subject of anxiety in patients with Parkinson's disease. Up to 40% of patients with Parkinson's disease experience clinically significant anxiety. This anxiety may be a psychological reaction to the stress of the illness or may be related to the neurochemical changes of the disease itself. Antiparkinsonian drugs may have a role in the pathogenesis of the anxiety. The anxiety disorders in Parkinson's disease patients appear to be clustered in th...

  5. There is no Parkinson disease.

    Science.gov (United States)

    Weiner, William J

    2008-06-01

    The term Parkinson disease defines a specific clinical condition characterized by a typical history and characteristic signs. This review examines the historical evolution of the concept of Parkinson disease and how the misunderstanding of Parkinson disease may be hindering clinical research trials. It is proposed that this syndrome be called Parkinson diseases or parkinsonism type 1 through infinity.

  6. Parkinson's Disease Videos

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  7. Parkinson's Disease Videos

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    Full Text Available ... live well with Parkinson's disease. Learn More Expert Care Patient Centered Care Centers of Excellence Bringing Care to You Expert Care Programs Professional Education Expert ...

  8. Parkinson's Disease Videos

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    Full Text Available ... CareMAP: Dealing with Dementia OHSU - Parkinson's Disease: Pharmacological Management of Depression, ... Care or Team Approach Important? What Is the Relationship Between Depression and ...

  9. Genetics Home Reference: Parkinson disease

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Parkinson disease Parkinson disease Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Parkinson disease is a progressive disorder of the nervous ...

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  11. Parkinson's Disease Videos

    Science.gov (United States)

    ... Nonmotor Symptoms of Parkinson's Disease Expert Briefings: Gait, Balance and Falls in Parkinson's Disease Expert Briefings: Coping Skills for ... Caregivers: Caremap and Caring & Coping CareMAP: Movement and Falls: Part ... There Any Ways to Control the Rate of Progression of the Disease? CareMAP: ...

  12. Parkinson's Disease Videos

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  13. Parkinson disease

    Science.gov (United States)

    ... The disease leads to shaking ( tremors ) and trouble walking and moving . ... include: Difficulty starting movement, such as starting to walk or ... are not moving. This is called resting tremor. Occur when your ...

  14. Copper to Zinc Ratio as Disease Biomarker in Neonates with Early-Onset Congenital Infections

    Science.gov (United States)

    Wisniewska, Monika; Cremer, Malte; Wiehe, Lennart; Becker, Niels-Peter; Rijntjes, Eddy; Martitz, Janine; Renko, Kostja; Bührer, Christoph; Schomburg, Lutz

    2017-01-01

    Copper (Cu) and zinc (Zn) are essential trace elements for regular development. Acute infections alter their metabolism, while deficiencies increase infection risks. A prospective observational case-control study was conducted with infected (n = 21) and control (n = 23) term and preterm newborns. We analyzed trace element concentrations by X-ray fluorescence, and ceruloplasmin (CP) by Western blot. Median concentration of Cu at birth (day 1) was 522.8 [387.1–679.7] μg/L, and Zn was 1642.4 ± 438.1 μg/L. Cu and Zn correlated positively with gestational age in control newborns. Cu increased in infected newborns from day 1 to day 3. CP correlated positively to Cu levels at birth in both groups and on day 3 in the group of infected neonates. The Cu/Zn ratio was relatively high in infected newborns. Interleukin (IL)-6 concentrations on day 1 were unrelated to Cu, Zn, or the Cu/Zn ratio, whereas C-reactive protein (CRP) levels on day 3 correlated positively to the Cu/Zn -ratio at both day 1 and day 3. We conclude that infections affect the trace element homeostasis in newborns: serum Zn is reduced, while Cu and CP are increased. The Cu/Zn ratio combines both alterations, independent of gestational age. It may, thus, constitute a meaningful diagnostic biomarker for early-onset infections. PMID:28358335

  15. Parkinson's Disease: Diagnosis and Treatment

    Science.gov (United States)

    ... of this page please turn JavaScript on. Feature: Parkinson's Disease Parkinson's Disease: Diagnosis and Treatment Past Issues / Winter 2014 ... live productive lives and maintain mobility. How is Parkinson's Diagnosed? There are no blood or laboratory tests ...

  16. Parkinson's Disease Videos

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  17. Parkinson's Disease Videos

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  18. Parkinson's Disease Videos

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  19. Parkinson's Disease Videos

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  20. Parkinson's Disease Videos

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  1. Parkinson's Disease Videos

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  2. Parkinson's Disease Videos

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  3. Parkinson's Disease Videos

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  4. Parkinson's Disease Videos

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    Full Text Available ... Parkinson's Disease Expert Briefings: Getting Around: Transportation and Travel with PD Expert Briefings: Sleep and Parkinson's Nurse: ... Psychosis What Medications Help with Cognitive Impairment? CareMAP: Travel and Transportation: Part 2 Parkinson’s Disease Psychosis: A ...

  5. Parkinson's Disease Videos

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    Full Text Available ... Non-Parkinson's Disease Medications? CareMAP: Life Beyond This Life What Treatments Exist for Parkinson's Disease Patients with a ... Learned Unconditional Love How Does the DBS Device ... When and What Type of Treatment Is Initiated After Diagnosis? Building ...

  6. Parkinson's Disease Videos

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    Full Text Available ... Nonmotor Symptoms of Parkinson's Disease Expert Briefings: Gait, Balance and Falls in Parkinson's Disease Expert Briefings: Coping ... Learned Unconditional Love How Does the DBS Device Work? CareMAP: Rest and Sleep: Part 1 CareMAP: Cambios ...

  7. Parkinson's Disease Videos

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    Full Text Available ... Nonmotor Symptoms of Parkinson's Disease Expert Briefings: Gait, Balance and Falls in Parkinson's Disease Expert Briefings: Coping ... Medication Schedule? CareMAP: Medicamentos y la Salud en General, Parte 2 CareMAP: Medications and General Health Part ...

  8. Parkinson's Disease Videos

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  9. Falls in Parkinson's disease.

    NARCIS (Netherlands)

    Grimbergen, Y.A.M.; Munneke, M.; Bloem, B.R.

    2004-01-01

    PURPOSE OF REVIEW: To summarize the latest insights into the clinical significance, assessment, pathophysiology and treatment of falls in Parkinson's disease. RECENT FINDINGS: Recent studies have shown that falls are common in Parkinson's disease, even when compared with other fall-prone

  10. Parkinson's Disease Videos

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    Full Text Available ... Day? How Does Parkinson's Disease Affect the Urinary System? NPF Caregiver Summit 2016: Tools For Family Caregivers: Caremap and Caring & Coping OHSU - Parkinson's Disease: Managing Depression, Anxiety & Psychosis CareMAP: Movement and Falls: Part 2 CareMAP: ...

  11. Parkinson's Disease Videos

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    Full Text Available ... Nonmotor Symptoms of Parkinson's Disease Expert Briefings: Gait, Balance and Falls in Parkinson's Disease Expert Briefings: Coping ... Care: Real Stories How Does the DBS Device Work? CareMAP: Movement and Falls: Part 1 CareMAP: Cambios ...

  12. Parkinson's Disease Videos

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    Full Text Available ... library Topic Type Living Alone: Home Safety and Management in PD Expert Briefings: Marijuana and PD: What ... Patients with Parkinson's Disease? OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis CareMAP: Movimientos y Caídas, ...

  13. Parkinson's Disease Videos

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    Full Text Available ... Nonmotor Symptoms of Parkinson's Disease Expert Briefings: Gait, Balance and Falls in Parkinson's Disease Expert Briefings: Coping ... Transportation: Part 1 How Does the DBS Device Work? CareMAP: Mealtime and Swallowing: Part 1 CareMAP: Cambios ...

  14. Parkinson's Disease Videos

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  15. Parkinson's Disease Videos

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  16. Parkinson's Disease Videos

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  17. Parkinson's Disease Videos

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  18. Parkinson's Disease Videos

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    Full Text Available ... Help with Cognitive Impairment? OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis Parkinson’s Disease Psychosis: A Caregiver’s Story What Are Some Strategies for Problems with Urination? CareMAP: Las Actividades en ...

  19. Parkinson's Disease Videos

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  20. Parkinson's Disease Videos

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    Full Text Available ... library Topic Type Living Alone: Home Safety and Management in PD Expert Briefings: Marijuana and PD: What ... Progression of the Disease? OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis What Are Some Strategies ...

  1. Parkinson's Disease Videos

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  2. Parkinson's Disease Videos

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  3. Parkinson's Disease Videos

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  4. Parkinson's Disease Videos

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  5. Parkinson's Disease Videos

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  6. Parkinson's Disease Videos

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  7. Parkinson's Disease Videos

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  8. Parkinson's Disease Videos

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    Full Text Available ... How Does Depression Affect the Patient's Family and Social Network? How Is Parkinson's Disease Diagnosed? CareMAP: Where to ... progresión del Parkinson? Is Compulsive Behavior a Side Effect of PD Medications? How Can Falls Be Prevented? ...

  9. Parkinson's Disease Videos

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  10. Parkinson's Disease Videos

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  11. Parkinson's Disease Videos

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    Full Text Available ... you can do to maintain and improve your quality of life and live well with Parkinson's disease. Learn More ... a lower risk of complications and have better quality of life. Learn More Research Research We Fund Parkinson's Outcomes ...

  12. Parkinson's Disease Videos

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    Full Text Available ... Diagnosis PD, Now What? Managing the First Few Years with Parkinson's Expert Briefings: Pain in PD Expert ... Common Misconceptions About Parkinson's Disease? CareMAP: Life Beyond This Life CareMAP: El Baño, Parte 2 What Are ...

  13. Parkinson's Disease Videos

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  14. Parkinson's Disease Videos

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  15. Parkinson's Disease Videos

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  16. Parkinson's Disease Videos

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  17. Parkinson's Disease Videos

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    Full Text Available ... of Exercise or Exercise Programs Are Recommended? Natalie Diaz, MD, Harbor-UCLA Medical Center: “Ententiendo el Párkinson” ... How Can Caregivers Help with Freezing Episodes? Adolfo Diaz, PTA, NPF - National Parkinson Foundation OHSU - Parkinson's Disease: ...

  18. Parkinson's Disease Videos

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  19. Parkinson's Disease Videos

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    Full Text Available ... How Is Parkinson's Disease Diagnosed? CareMAP: Managing Caregiver Stress CareMAP: Getting Dressed CareMAP: End-of-Life Care ... Salud en General, Parte 2 CareMAP: Rest and Sleep: Part 2 Dra. Claudia Martinez, MAPC - Parkinson- Pasion, ...

  20. Parkinson's Disease Videos

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    Full Text Available ... Conference: Lessons Learned How Does the DBS Device Work? Unconditional Love CareMAP: Rest and Sleep: Part 1 ... OHSU - Overview of Parkinson's Disease CareMAP: Activities at Home CareMAP: Caring for Someone with Advanced Parkinson's What ...

  1. Xenotransplantation in Parkinson's disease

    NARCIS (Netherlands)

    Koopmans, Jan

    2006-01-01

    Parkinson's disease is a neurodegenerative disorder characterised by loss of dopaminergic neurones in the substantia nigra pars compacta and subsequent shortage of dopamine in the striatum of the these patients causing the well known symptoms first described by James Parkinson in 1817. In this

  2. The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers.

    Science.gov (United States)

    Wallon, David; Rousseau, Stéphane; Rovelet-Lecrux, Anne; Quillard-Muraine, Muriel; Guyant-Maréchal, Lucie; Martinaud, Olivier; Pariente, Jérémie; Puel, Michèle; Rollin-Sillaire, Adeline; Pasquier, Florence; Le Ber, Isabelle; Sarazin, Marie; Croisile, Bernard; Boutoleau-Bretonnière, Claire; Thomas-Antérion, Catherine; Paquet, Claire; Moreaud, Olivier; Gabelle, Audrey; Sellal, François; Sauvée, Mathilde; Laquerrière, Annie; Duyckaerts, Charles; Delisle, Marie-Bernadette; Streichenberger, Nathalie; Lannes, Béatrice; Frebourg, Thierry; Hannequin, Didier; Campion, Dominique

    2012-01-01

    We describe 56 novel autosomal dominant early-onset Alzheimer disease (ADEOAD) families with PSEN1, PSEN2, and AβPP mutations or duplications, raising the total of families with mutations on known genes to 111 (74 PSEN1, 8 PSEN2, 16 AβPP, and 13 AβPP duplications) in the French series. In 33 additional families (23% of the series), the genetic determinism remained uncharacterized after this screening. Cerebrospinal fluid (CSF) biomarker levels were obtained for patients of 58 families (42 with known mutations and 16 without genetic characterization). CSF biomarkers profile was consistent with an AD diagnosis in 90% of families carrying mutations on known genes. In families without mutation, CSF biomarkers were consistent with AD diagnosis in 14/16 cases. Overall, these results support further genetic heterogeneity in the determinism of ADEOAD and suggest that other major genes remain to be characterized.

  3. How Should Clinicians Counsel a Woman with a Strong Family History of Early-Onset Alzheimer's Disease about Her Pregnancy?

    Science.gov (United States)

    Mapes, Marianna V; O'Brien, Barbara M; King, Louise P

    2017-07-01

    Counseling patients regarding the benefits, harms, and dilemmas of genetic testing is one of the greatest ethical challenges facing reproductive medicine today. With or without test results, clinicians grapple with how to communicate potential genetic risks as patients weigh their reproductive options. Here, we consider a case of a woman with a strong family history of early-onset Alzheimer's disease (EOAD). She is early in her pregnancy and unsure about learning her own genetic status. We address the ethical ramifications of each of her options, which include genetic testing, genetic counseling, and termination versus continuation of the pregnancy. Our analysis foregrounds clinicians' role in helping to ensure autonomous decision making as the patient reflects on these clinical options in light of her goals and values. © 2017 American Medical Association. All Rights Reserved.

  4. Parkinson's Disease Videos

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    Full Text Available ... library Topic Type Living Alone: Home Safety and Management in PD Expert Briefings: Marijuana and PD: What ... Managing Depression, Anxiety & Psychosis OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis Why We Walk at ...

  5. Parkinson's Disease Videos

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    Full Text Available ... PD Library Search library Topic Type Expert Briefings: Marijuana and PD: What Do We Really Know? Nurse ... PD Expert Briefings: Parkinson's Disease: Financial, Legal and Medical Planning Tips for Care Partners Nurse Webinars: Nursing ...

  6. Parkinson's Disease Videos

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    Full Text Available ... Swallowing: Part 1 How Does Parkinson's Disease Affect Memory? What Do I Do if I Suspect Compulsive ... What Does a Caregiver Need to Know About Cognitive Impairment? How Do I Manage Non-Motor Problems ...

  7. Parkinson's Disease Videos

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    Full Text Available ... Managing Depression, Anxiety & Psychosis OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis Ask the Helpline: What Is a Movement Disorder Specialist? What Are Some Strategies for Problems with Urination? How Do I Know ...

  8. Pathogenesis of Parkinson's disease

    OpenAIRE

    Riederer, Peter; Lange, Klaus W.

    1992-01-01

    The importance of genetic aspects, ageing, environmental factors, head trauma, defective mitochondrial respiration, altered iron metabolism, oxidative stress and glutamatergic overactivity of the basal ganglia in the pathogenesis of Parkinson's disease (PD) are considered in this review.

  9. Parkinson's Disease Videos

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  10. Parkinson's Disease Videos

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    Full Text Available ... library Topic Type Living Alone: Home Safety and Management in PD Expert Briefings: Marijuana and PD: What ... Program: Step by Step OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis Ask the Helpline: What ...

  11. Parkinson's Disease Videos

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    Full Text Available ... PD Library Search library Topic Type Expert Briefings: Marijuana and PD: What Do We Really Know? Nurse ... Have Similar Symptoms? How Does Parkinson's Disease Affect Memory? How Does Depression Affect the Patient's Family and ...

  12. Parkinson's Disease Videos

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    Full Text Available ... the Urinary System? What Are the Risks and Benefits of DBS Surgery? NPF Caregiver Summit 2016: Tools ... Depression and Parkinson's Disease? What Are the Neuroprotective Benefits of Exercise for PD Patients? Hallucinations and Delusions ...

  13. Parkinson's Disease Videos

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    Full Text Available ... Bringing Care to You Expert Care Programs Professional Education Expert Care Research shows people with Parkinson’s who ... Psychosis: Hallucinations, Delusions and Paranoia Nurse Webinars: Interdisciplinary Education on Parkinson's Disease Expert Briefings: Getting Around: Transportation ...

  14. Parkinson's Disease Videos

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    Full Text Available ... A You are here Home PD Library Search library Topic Type Nursing Solutions: Improving Caregiver Strain through Science and Model Interventions Expert Briefings: Parkinson's Disease Psychosis: ...

  15. Learning about Parkinson's Disease

    Science.gov (United States)

    Skip to main content Learning About Parkinson's Disease Enter Search Term(s): Español Research Funding An Overview Bioinformatics Current Grants Education and Training Funding Extramural Research ...

  16. Parkinson's Disease Videos

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    Full Text Available ... know about Parkinson's disease. Learn about symptoms, how it is diagnosed and what treatment options are available. ... your gift takes, you can be confident that it goes toward providing crucial resources for those affected ...

  17. Parkinson's Disease Videos

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    Full Text Available ... Walk at Moving Day OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety ... Summit 2016: Maintaining Dignity & Identity Why Is It Important to Continue Self-Care ...

  18. Parkinson's Disease Videos

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    Full Text Available ... Side Effect of PD Medications? CareMAP: Challenges and Rewards of Caregiving Why Dance for PD? What Are ... Caregivers How Does Parkinson's Disease Affect the Urinary System? How Can Caregivers Help with Freezing Episodes? OHSU - ...

  19. Parkinson's Disease Videos

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    Full Text Available ... library Topic Type Living Alone: Home Safety and Management in PD Expert Briefings: Marijuana and PD: What ... What Is the Helpline? OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis How Does Speech Therapy ...

  20. Parkinson's Disease Videos

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    Full Text Available ... Swallowing: Part 2 What Is the Relationship Between Depression and Parkinson's Disease? What Is Patient-Centered Care? Hallucinations and Delusions Dealing with Dementia CareMAP: Medicamentos ...

  1. Parkinson's Disease Videos

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    Full Text Available ... What Do We Really Know? Nurse Webinars: Nursing Solutions: Improving Caregiver Strain through Science and Model Interventions ... Psychosis: Hallucinations, Delusions and Paranoia Nurse Webinars: Nursing Solutions: Understanding Fatigue and Apathy in Parkinson's Disease Nurse ...

  2. Parkinson's Disease Videos

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    Full Text Available ... library Topic Type Living Alone: Home Safety and Management in PD Expert Briefings: Marijuana and PD: What ... a Brother: Donna’s Story OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis What Are Some Strategies ...

  3. Parkinson's Disease Videos

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    Full Text Available ... Ask Expert Briefings: Physical Therapy & PD: What You Need to Know Expert Briefings: What's Missing? Communication and the PD Partnership Expert Briefings: Fatigue, Sleep Disorders and Parkinson's Disease Expert Briefings: What's in ...

  4. Parkinson's Disease Videos

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    Full Text Available ... When Is It Time to Get Help? Unconditional Love CareMAP: Rest and Sleep: Part 1 What Are ... Around the House: Part 2 What Is the Relationship Between Depression and Parkinson's Disease? Hallucinations and Delusions ...

  5. Parkinson's Disease Videos

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    Full Text Available ... library Topic Type Living Alone: Home Safety and Management in PD Expert Briefings: Marijuana and PD: What ... la Deglución, Parte 2 OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis What Are Some Strategies ...

  6. Parkinson's Disease Videos

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    Full Text Available ... library Topic Type Living Alone: Home Safety and Management in PD Expert Briefings: Marijuana and PD: What ... con todos los presentadores OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis Is Compulsive Behavior a ...

  7. Parkinson's Disease Videos

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    Full Text Available ... Marijuana and PD: What Do We Really Know? Nurse Webinars: Nursing Solutions: Improving Caregiver Strain through Science ... Briefings: Parkinson's Disease Psychosis: Hallucinations, Delusions and Paranoia Nurse Webinars: Nursing Solutions: Understanding Fatigue and Apathy in ...

  8. Parkinson's Disease Videos

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    Full Text Available ... you can do to maintain and improve your quality of life and live well with Parkinson's disease. ... a lower risk of complications and have better quality of life. Learn More Research Research We Fund ...

  9. Parkinson's Disease Videos

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    Full Text Available ... library Topic Type Expert Briefings: Marijuana and PD: What Do We Really Know? Nurse Webinars: Nursing Solutions: Improving Caregiver Strain through Science and Model Interventions Expert Briefings: Parkinson's Disease Psychosis: ...

  10. Parkinson's Disease Videos

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    Full Text Available ... Education on Parkinson's Disease Expert Briefings: Getting Around: Transportation and Travel with PD Expert Briefings: Sleep and ... for PD: Depression, Anxiety & Psychosis CareMAP: Travel and Transportation: Part 2 Ask the Helpline: Why Is Exercise ...

  11. Parkinson's Disease Videos

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    Full Text Available ... Gene and Cell Therapies Expert Briefings: Dealing with Dementia in PD Expert Briefings: Anxiety in Parkinson's Disease ... 1 What Is Patient-Centered Care? Dealing with Dementia CareMAP: Life Beyond This Life What Are Some ...

  12. Parkinson's Disease Videos

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    Full Text Available ... library Topic Type Living Alone: Home Safety and Management in PD Expert Briefings: Marijuana and PD: What ... la Deglución, Parte 2 OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis Caregiver Summit 2016: The ...

  13. Nondipping in Parkinson's Disease

    OpenAIRE

    Sita Sommer; Billur Aral-Becher; Wolfgang Jost

    2011-01-01

    Objective. The aim of this study was to identify patients with Parkinson's disease who showed loss or decrease of nocturnal blood pressure fall (nondipper patients) as a marker of autonomic dysfunction. Presence or absence of orthostatic hypotension was considered to investigate whether alterations in circadian blood pressure pattern are associated with posture-related dysregulation of blood pressure. Methods. 40 patients with Parkinson's disease underwent 24-hour blood pressure monitoring. 2...

  14. Huntington disease: a case study of early onset presenting as depression.

    Science.gov (United States)

    Duesterhus, Pia; Schimmelmann, Benno Graf; Wittkugel, Oliver; Schulte-Markwort, Michael

    2004-10-01

    Huntington disease is a dominantly inherited, neurodegenerative disease characterized by choreiform movement disturbances and dementia, usually with adult onset. The rare juvenile-onset Huntington disease differs from the adult phenotype. A case presenting twice, at age 10 with all the signs of a major depression and age 14 with mutism and rigidity, is reported. Meanwhile, the father developed the adult variant of Huntington disease. The boy's diagnosis was confirmed by molecular genetic analysis and magnetic resonance imaging. It is important to be aware of hereditary conditions such as Huntington disease and to provide family counseling before genetic testing and after the diagnosis is confirmed.

  15. Family history of premature death and risk of early onset cardiovascular disease

    DEFF Research Database (Denmark)

    Ranthe, Mattis Flyvholm; Carstensen, Lisbeth; Oyen, Nina

    2012-01-01

    The purpose of this study was to examine the effect of a family history of premature death, cardiovascular death in particular, on the risk of early cardiovascular disease.......The purpose of this study was to examine the effect of a family history of premature death, cardiovascular death in particular, on the risk of early cardiovascular disease....

  16. Psychiatric Symptomatology in Early-Onset Binswanger’s Disease: Two Case Reports

    Directory of Open Access Journals (Sweden)

    R. M. Lawrence

    1995-01-01

    Full Text Available We describe two cases of Binswanger's disease of pre-senile onset which presented with affective and psychotic symptoms well before the appearance of cognitive deterioration and neurological signs, initially evading an accurate diagnosis. Psychiatrists should be aware of white matter disease and its role in the pathogenesis of psychiatric illness. Particular attention should be given to a history of hypertension as a risk factor in the early identification of these cases.

  17. Linkage of familial Alzheimer disease to chromosome 14 in two large early-onset pedigrees: effects of marker allele frequencies on lod scores.

    Science.gov (United States)

    Nechiporuk, A; Fain, P; Kort, E; Nee, L E; Frommelt, E; Polinsky, R J; Korenberg, J R; Pulst, S M

    1993-05-01

    Alzheimer disease (AD) is a devastating neurodegenerative disease leading to global dementia. In addition to sporadic forms of AD, familial forms (FAD) have been recognized. Mutations in the amyloid precursor protein (APP) gene on chromosome (CHR) 21 have been shown to cause early-onset AD in a small number of pedigrees. Recently, linkage to markers on CHR 14 has been established in several early-onset FAD pedigrees. We now report lod scores for CHR 14 markers in two large early-onset FAD pedigrees. Pairwise linkage analysis suggested that in these pedigrees the mutation is tightly linked to the loci D14S43 and D14S53. However, assumptions regarding marker allele frequencies had a major and often unpredictable effect on calculated lod scores. Therefore, caution needs to be exercised when single pedigrees are analyzed with marker allele frequencies determined from the literature or from a pool of spouses.

  18. Family history of premature death and risk of early onset cardiovascular disease.

    Science.gov (United States)

    Ranthe, Mattis Flyvholm; Carstensen, Lisbeth; Oyen, Nina; Tfelt-Hansen, Jacob; Christiansen, Michael; McKenna, William J; Wohlfahrt, Jan; Melbye, Mads; Boyd, Heather A

    2012-08-28

    The purpose of this study was to examine the effect of a family history of premature death, cardiovascular death in particular, on the risk of early cardiovascular disease. Studies suggest that fatal cardiovascular events and less severe cardiovascular diseases may co-occur in families. Consequently, a family history of premature death may indicate a familial cardiac frailty that predisposes to early cardiovascular disease. We ascertained family history of premature death (age Denmark from 1950 to 2008 and followed this cohort for early cardiovascular disease (age history of premature cardiovascular death in first-degree relatives were 1.72 (95% confidence interval [CI]: 1.68 to 1.77), 2.21 (95% CI: 2.11 to 2.31), and 1.94 (95% CI: 1.70 to 2.20), respectively. With ≥2 cardiovascular deaths in a family, corresponding IRRs were 3.30 (95% CI: 2.77 to 3.94), 5.00 (95% CI: 3.87 to 6.45), and 6.18 (95% CI: 3.32 to 11.50). The IRR for any early cardiovascular disease given a family history of premature noncardiovascular death was significantly lower, 1.12 (95% CI: 1.10 to 1.14) (p(cardiac vs. noncardiac) history of premature cardiovascular death was consistently and significantly associated with a risk of early cardiovascular disease, suggesting an inherited cardiac vulnerability. These results should be kept in mind when assessing cardiovascular disease risk in persons with a family history of premature cardiovascular death. Copyright © 2012 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  19. Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation

    DEFF Research Database (Denmark)

    Lindquist, S.G.; Nielsen, J.E.; Stokholm, J.

    2008-01-01

    BACKGROUND: Approximately 1% of all cases of Alzheimer's disease are inherited autosomal dominantly, and to date, three causative genes have been found, the Presenilin 1 (PSEN1) gene, the Presenilin 2 (PSEN2) gene and the Amyloid precursor protein (APP) gene. We describe atypical phenotypic...... features in a family with a pathogenic APP gene mutation and discuss possible explanations for these atypical features. METHODS AND RESULTS: We report a family with a history of dementia compatible with autosomal dominant transmission. The disease course in the proband was not typical for Alzheimer......'s disease as the diagnosis was preceded by 8 years of an isolated amnesia. Further, the proband had epilepsy with complex partial seizures and central degenerative autonomic failure as determined by clinical physiology. Sequencing the three known causative Alzheimer genes revealed a pathogenic missense...

  20. Iowa Gambling Task in patients with early-onset Parkinson’s disease: strategy analysis

    Czech Academy of Sciences Publication Activity Database

    Gescheidt, T.; Czekóová, Kristína; Urbánek, Tomáš; Mareček, R.; Mikl, M.; Kubíková, R.; Telecká, S.; Andrlová, H.; Husárová, I.; Bareš, M.

    2012-01-01

    Roč. 33, č. 6 (2012), s. 1329-1335 ISSN 1590-1874 R&D Projects: GA ČR(CZ) GAP407/12/2432 Institutional support: RVO:68081740 Keywords : Parkinson’s disease * decision making * Iowa gambling task * executive function Subject RIV: FL - Psychiatry, Sexuology Impact factor: 1.412, year: 2012

  1. Somatization in Parkinson's Disease

    DEFF Research Database (Denmark)

    Carrozzino, Danilo; Bech, Per; Patierno, Chiara

    2017-01-01

    The current systematic review study is aimed at critically analyzing from a clinimetric viewpoint the clinical consequence of somatization in Parkinson's Disease (PD). By focusing on the International Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, we...... consequence of such psychiatric symptom should be further evaluated by replacing the clinically inadequate diagnostic label of psychogenic parkinsonism with the psychosomatic concept of persistent somatization as conceived by the Diagnostic Criteria for Psychosomatic Research (DCPR)....

  2. Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis.

    Science.gov (United States)

    Kammermeier, Jochen; Drury, Suzanne; James, Chela T; Dziubak, Robert; Ocaka, Louise; Elawad, Mamoun; Beales, Philip; Lench, Nicholas; Uhlig, Holm H; Bacchelli, Chiara; Shah, Neil

    2014-11-01

    Multiple monogenetic conditions with partially overlapping phenotypes can present with inflammatory bowel disease (IBD)-like intestinal inflammation. With novel genotype-specific therapies emerging, establishing a molecular diagnosis is becoming increasingly important. We have introduced targeted next-generation sequencing (NGS) technology as a prospective screening tool in children with very early onset IBD (VEOIBD). We evaluated the coverage of 40 VEOIBD genes in two separate cohorts undergoing targeted gene panel sequencing (TGPS) (n=25) and whole exome sequencing (WES) (n=20). TGPS revealed causative mutations in four genes (IL10RA, EPCAM, TTC37 and SKIV2L) discovered unexpected phenotypes and directly influenced clinical decision making by supporting as well as avoiding haematopoietic stem cell transplantation. TGPS resulted in significantly higher median coverage when compared with WES, fewer coverage deficiencies and improved variant detection across established VEOIBD genes. Excluding or confirming known VEOIBD genotypes should be considered early in the disease course in all cases of therapy-refractory VEOIBD, as it can have a direct impact on patient management. To combine both described NGS technologies would compensate for the limitations of WES for disease-specific application while offering the opportunity for novel gene discovery in the research setting. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  3. The Etiology and Clinical Course of Chronic Pancreatitis in Children With Early Onset of the Disease.

    Science.gov (United States)

    Wejnarska, Karolina; Kolodziejczyk, Elwira; Wertheim-Tysarowska, Katarzyna; Dadalski, Maciej; Sobczynska-Tomaszewska, Agnieszka; Kierkus, Jarosław; Bal, Jerzy; Rygiel, Agnieszka Magdalena; Oracz, Grzegorz

    2016-12-01

    The etiological factors of chronic pancreatitis (CP) in children differ from those in adults. To date, no study has assessed the clinical course of CP in young children. The aim of our study was to evaluate the etiology and the clinical presentation of the disease in children with disease onset before 5 years of age in comparison to later-onset of CP. A total of 276 children with CP, hospitalized from 1988 to 2015, were enrolled in the study. Data on presentation, diagnostic findings, and treatment were reviewed. Two hundred sixty patients were screened for the most frequent mutations in major pancreatitis-associated genes, such as cationic trypsinogen/serine protease gene (PRSS1), serine protease inhibitor, Kazal type 1 gene (SPINK1), and cystic fibrosis transmembrane conductance regulator gene (CFTR). The disease onset before the age of 5 years occurred in 51 patients (group 1), the later onset in 225 patients (group 2). We found no significant discrepancies in distribution of the etiological factors between groups. The youngest patients (group 1) had more pancreatitis episodes (median 5.0 vs 3.00; P pancreatic function. Early- and later-onset pancreatitis have similar etiological factors with predominance of gene mutations. The most frequent mutation found was p.Asn34Ser (N34S) in SPINK1 gene. The clinical presentation differed in number of pancreatitis episodes and frequency of surgeries.

  4. Therapies in Parkinson's disease.

    Science.gov (United States)

    Jankovic, Joseph; Poewe, Werner

    2012-08-01

    This review examines currently available therapeutic strategies for Parkinson's disease, emphasizing evidence-based data as well as a patient-centered approach to the treatment of motor and nonmotor symptoms. Although clinical trials of disease-modifying approaches have been thus far disappointing, steady advances are being made in the symptomatic treatment of Parkinson's disease. In this review, we focus on recent studies with monoamine oxidase type B inhibitors (selegiline and rasagiline), coenzyme Q10, creatine, and exercise in early Parkinson's disease. We also discuss the relative merits and disadvantages of delaying the initiation of levodopa therapy, the role of dopamine agonists, particularly ropinirole and pramipexole, and management of motor and behavioral complications, such as fluctuations, dyskinesias and impulse-control disorders. Novel formulations and delivery approaches for conventional and new drugs are also discussed. Finally, we review recent studies of surgical treatments of Parkinson's disease, such as deep brain stimulation. Numerous clinical trials have provided evidence that health-related quality of life can be substantially improved with early diagnosis and institution of exercise and other physical measures, appropriate timing of dopaminergic therapy, and strategies to delay and treat levodopa-related motor complications and nonmotor Parkinson's disease-related symptoms.

  5. Identification of probable early-onset biomarkers for tuberculosis disease progression.

    Directory of Open Access Journals (Sweden)

    Jayne S Sutherland

    Full Text Available Determining what constitutes protective immunity to TB is critical for the development of improved diagnostics and vaccines. The comparison of the immune system between contacts of TB patients, who later develop TB disease (progressors, versus contacts who remain healthy (non-progressors, allows for identification of predictive markers of TB disease. This study provides the first comprehensive analysis of the immune system of progressors and non-progressors using a well-characterised TB case-contact (TBCC platform in The Gambia, West Africa. 22 progressors and 31 non-progressors were analysed at recruitment, 3 months and 18 months (time to progression: median[IQR] of 507[187-714] days. Immunophenotyping of PBMC, plasma cytokine levels and RT-MLPA analysis of whole blood-derived RNA was performed to capture key immune system parameters. At recruitment, progressors had lower PBMC proportions of CD4+ T cells, NKT cells and B cells relative to non-progressors. Analysis of the plasma showed higher levels of IL-18 in progressors compared to non-progressors and analysis of the RNA showed significantly lower gene expression of Bcl2 but higher CCR7 in progressors compared to non-progressors. This study shows several markers that may predict the onset of active TB at a very early stage after infection. Once these markers have been validated in larger studies, they provide avenues to prospectively identify people at risk of developing TB, a key issue in the testing of new TB vaccines.

  6. Motor assessment in Parkinson`s disease.

    Science.gov (United States)

    Opara, Józef; Małecki, Andrzej; Małecka, Elżbieta; Socha, Teresa

    2017-09-21

    Parkinson's disease (PD) is one of most disabling disorders of the central nervous system. The motor symptoms of Parkinson's disease: shaking, rigidity, slowness of movement, postural instability and difficulty with walking and gait, are difficult to measure. When disease symptoms become more pronounced, the patient experiences difficulties with hand function and walking, and is prone to falls. Baseline motor impairment and cognitive impairment are probable predictors of more rapid motor decline and disability. An additional difficulty is the variability of the symptoms caused by adverse effects of drugs, especially levodopa. Motor assessment of Parkinson`s Disease can be divided into clinimetrics, assessment of balance and posture, arm and hand function, and gait/walking. These are many clinimetric scales used in Parkinson`s Disease, the most popular being the Hoehn and Yahr stages of progression of the disease and Unified Parkinson's Disease Rating Scale. Balance and posture can be assessed by clinimetric scales like the Berg BS, Tinetti, Brunel BA, and Timed Up and Go Test, or measured by posturometric platforms. Among skill tests, the best known are: the Purdue Pegboard Test, Nine-Hole Peg Test, Jebsen and Taylor test, Pig- Tail Test, Frenchay Arm Test, Action Research Arm Test, Wolf FMT and Finger-Tapping Test. Among motricity scales, the most popular are: the Fugl-Meyer Motor Assessment Scale and Södring Motor Evaluation. Gait and walking can also be assessed quantitatively and qualitatively. Recently, the most popular is three-dimensional analysis of movement. This review article presents the current possibilities of motor assessment in Parkinson`s disease.

  7. Chronic exposure to trichloroethene causes early onset of SLE-like disease in female MRL +/+ mice

    International Nuclear Information System (INIS)

    Cai Ping; Koenig, Rolf; Boor, Paul J.; Kondraganti, Shakuntala; Kaphalia, Bhupendra S.; Khan, M. Firoze; Ansari, G.A.S.

    2008-01-01

    Trichloroethene (TCE) exacerbates the development of autoimmune responses in autoimmune-prone MRL +/+ mice. Although TCE-mediated autoimmune responses are associated with an increase in serum immunoglobulins and autoantibodies, the underlying mechanism of autoimmunity is not known. To determine the progression of TCE-mediated immunotoxicity, female MRL +/+ mice were chronically exposed to TCE through the drinking water (0.5 mg/ml of TCE) for various periods of time. Serum concentrations of antinuclear antibodies increased after 36 and 48 weeks of TCE exposure. Histopathological analyses showed lymphocyte infiltration in the livers of MRL +/+ mice exposed to TCE for 36 or 48 weeks. Lymphocyte infiltration was also apparent in the pancreas, lungs, and kidneys of mice exposed to TCE for 48 weeks. Immunoglobulin deposits in kidney glomeruli were found after 48 weeks of exposure to TCE. Our results suggest that chronic exposure to TCE promotes inflammation in the liver, pancreas, lungs, and kidneys, which may lead to SLE-like disease in MRL +/+ mice

  8. Diabetes mellitus and Parkinson disease.

    Science.gov (United States)

    Pagano, Gennaro; Polychronis, Sotirios; Wilson, Heather; Giordano, Beniamino; Ferrara, Nicola; Niccolini, Flavia; Politis, Marios

    2018-05-08

    To investigate whether diabetes mellitus is associated with Parkinson-like pathology in people without Parkinson disease and to evaluate the effect of diabetes mellitus on markers of Parkinson pathology and clinical progression in drug-naive patients with early-stage Parkinson disease. We compared 25 patients with Parkinson disease and diabetes mellitus to 25 without diabetes mellitus, and 14 patients with diabetes mellitus and no Parkinson disease to 14 healthy controls (people with no diabetes mellitus or Parkinson disease). The clinical diagnosis of diabetes mellitus was confirmed by 2 consecutive fasting measurements of serum glucose levels >126 mL/dL. Over a 36-month follow-up period, we then investigated in the population with Parkinson disease whether the presence of diabetes mellitus was associated with faster motor progression or cognitive decline. The presence of diabetes mellitus was associated with higher motor scores ( p Parkinson disease. In patients with diabetes but without Parkinson disease, the presence of diabetes mellitus was associated with lower striatal dopamine transporter binding ( p Parkinson disease, the presence of diabetes mellitus was associated with faster motor progression (hazard ratio = 4.521, 95% confidence interval = 1.468-13.926; p Parkinson-like pathology, and when present in patients with Parkinson disease, can induce a more aggressive phenotype. © 2018 American Academy of Neurology.

  9. Parkinson's Disease Videos

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    Full Text Available ... Swallowing: Part 1 How Does Parkinson's Disease Affect Memory? What Do I Do if I Suspect Compulsive ... Disease Psychosis: A Caregiver’s Story When and What Type of Treatment Is Initiated After Diagnosis? CareMAP: Las ...

  12. Parkinson's Disease Videos

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    Full Text Available ... and Benefits of DBS Surgery? CareMAP: Managing Caregiver Stress Caregiver Summit 2016: Embracing The Challenge: A Panel ... Progression of the Disease? OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis Panel de Expertos: Sesión ...

  13. Early-onset group B streptococcal disease following culture-based screening in Japan: a single center study.

    Science.gov (United States)

    Miyata, Akane; Takahashi, Hironori; Kubo, Takahiko; Watanabe, Noriyoshi; Tsukamoto, Keiko; Ito, Yushi; Sago, Haruhiko

    2012-08-01

    We investigated trends in early-onset group B streptococcal disease (EOD) after the introduction of culture-based screening in Japan. A retrospective cohort study examined EOD trends in 9506 pregnancies and 10 715 neonates at our center from 2002 to 2009. EOD occurred in four neonates (4/7332: 0.55/1000 live births). The EOD incidence among infants born to women positive for GBS by screening was 0.90 cases per 1000 live births (1/1107). In contrast, the EOD incidence among infants negative by GBS screening was 0.48 cases per 1000 live births (3/6225). Thus, of the four affected neonates, three had mothers who tested negative on antepartum GBS screening. Two neonates had symptoms of infection during labor and intrapartum antibiotic agents were administered. The other two neonates received no antibiotics because deliveries were uneventful and they were negative on GBS screening. The incidence of EOD is 0.90 cases per 1000 live births among GBS-positive women and 0.48 cases per 1000 live births among GBS-negative women. The results of our study implied that EOD can develop regardless of GBS screening and intrapartum clinical course, although the method of sample collection, indications for antibiotic prophylaxis, and the antibiotics regimen should be considered. © 2012 The Authors. Journal of Obstetrics and Gynaecology Research © 2012 Japan Society of Obstetrics and Gynecology.

  14. Kinesiotherapy of Parkinson`s disease and Parkinson`s syndrom

    OpenAIRE

    Zechovská, Lenka

    2013-01-01

    Author: Lenka Zechovská Institution: Rehabilitation Clinic, Faculty of Medicine in Hradec Králové Title: Kinesiotherapy of Parkinson's disease and Parkinson's syndrome Supervisor: Mgr. Ivana Vondráková Number of pages: 115 Number of attachments: 8 Year of defence: 2013 Keywords: Parkinson's disease, basal ganglia, tremor, rigidity, hypokinesia Bachelor thesis deals with the problems of Parkinson's disease and Parkinson's syndrome. The theoretical part includes the basal ganglia pathophysiolog...

  15. Parkinson Disease and Dementia.

    Science.gov (United States)

    Garcia-Ptacek, Sara; Kramberger, Milica G

    2016-09-01

    Dementia is a frequent complication of Parkinson disease (PD) with a yearly incidence of around 10% of patients with PD. Lewy body pathology is the most important factor in the development of Parkinson disease dementia (PDD) and there is evidence for a synergistic effect with β-amyloid. The clinical phenotype in PDD extends beyond the dysexecutive syndrome that is often present in early PD and encompasses deficits in recognition memory, attention, and visual perception. Sleep disturbances, hallucinations, neuroleptic sensitivity, and fluctuations are often present. This review provides an update on current knowledge of PDD including aspects of epidemiology, pathology, clinical presentation, management, and prognosis. © The Author(s) 2016.

  16. A genetic screen of the mutations in the Korean patients with early-onset Alzheimer’s disease

    Directory of Open Access Journals (Sweden)

    An SS

    2016-12-01

    Full Text Available Seong Soo An,1,* Sun Ah Park,2,* Eva Bagyinszky,1 Sun Oh Bae,1 Yoon-Jeong Kim,2 Ji Young Im,2 Kyung Won Park,3 Kee Hyung Park,4 Eun-Joo Kim,5 Jee Hyang Jeong,6 Jong Hun Kim,7 Hyun Jeong Han,8 Seong Hye Choi,9 SangYun Kim10 1Department of Bionano Technology, Gachon University, Seongnam-si, 2Department of Neurology, Soonchunhyang University Bucheon Hospital, Bucheon, 3Department of Neurology, Dong-A University College of Medicine and Institute of Convergence Bio-Health, Busan, 4Department of Neurology, Gachon University Gil Medical Center, Incheon, 5Department of Neurology, Pusan National University Hospital, Busan, 6Department of Neurology, Ewha Womans University Mokdong Hospital, Seoul, 7Department of Neurology, Ilsan Hospital, National Health Insurance Corporation, 8Department of Neurology, Myongii Hospital, Goyang, 9Department of Neurology, Inha University School of Medicine, Incheon, 10Department of Neurology, Seoul National University College of Medicine & Neurocognitive Behavior Center, Seoul National University Bundang Hospital, Seongnam-si, Republic of Korea *These authors contributed equally to this work Abstract: Early-onset Alzheimer’s disease (EOAD has distinct clinical characteristics in comparison to late-onset Alzheimer’s disease (LOAD. The genetic contribution is suggested to be more potent in EOAD. However, the frequency of causative mutations in EOAD could be variable depending on studies. Moreover, no mutation screening study has been performed yet employing large population in Korea. Previously, we reported that the rate of family history of dementia in EOAD patients was 18.7% in a nationwide hospital-based cohort study, the Clinical Research Center for Dementia of South Korea (CREDOS study. This rate is much lower than in other countries and is even comparable to the frequency of LOAD patients in our country. To understand the genetic characteristics of EOAD in Korea, we screened the common Alzheimer’s disease (AD

  17. Pharmacotherapy for Parkinson's disease.

    Science.gov (United States)

    Chen, Jack J; Swope, David M

    2007-12-01

    The available pharmacotherapies for Parkinson's disease address symptomatology because no agent has been demonstrated to provide definite neuroprotection against the disease. Choice of pharmacotherapy must include consideration of short-term benefits as well as long-term consequences. Patients with mild Parkinson's disease often function adequately without symptomatic treatment. However, recent data suggest that initiation of treatment with a well-tolerated agent (e.g., the monoamine oxidase [MAO]-B inhibitor rasagiline) in the absence of functional impairment is associated with improved long-term outcomes. Consideration should also be given to many patient-specific factors, including patient expectations, level of disability, employment status, functional as well as chronologic age, expected efficacy and tolerability of drugs, and response to previous Parkinson's disease therapies. Increasingly, initial monotherapy begins with a nondopaminergic agent or, if the patient is considered functionally young, a dopamine agonist. Since Parkinson's disease is a progressive disorder, adjustments to pharmacotherapy must be expected over time. When greater symptomatic relief is desired, or in the more frail elderly patient, levodopa therapy should be considered. If motor fluctuations develop, addition of a catechol-O-methyltransferase inhibitor or MAO-B inhibitor should be considered. For management of levodopa-induced dyskinesias, addition of amantadine is an option. Surgery may be considered when patients need additional symptomatic control or are experiencing severe motor complications despite pharmacologically optimized therapy.

  18. Early-onset sleep defects in Drosophila models of Huntington's disease reflect alterations of PKA/CREB signaling

    Science.gov (United States)

    Gonzales, Erin D.; Tanenhaus, Anne K.; Zhang, Jiabin; Chaffee, Ryan P.; Yin, Jerry C.P.

    2016-01-01

    Huntington's disease (HD) is a progressive neurological disorder whose non-motor symptoms include sleep disturbances. Whether sleep and activity abnormalities are primary molecular disruptions of mutant Huntingtin (mutHtt) expression or result from neurodegeneration is unclear. Here, we report Drosophila models of HD exhibit sleep and activity disruptions very early in adulthood, as soon as sleep patterns have developed. Pan-neuronal expression of full-length or N-terminally truncated mutHtt recapitulates sleep phenotypes of HD patients: impaired sleep initiation, fragmented and diminished sleep, and nighttime hyperactivity. Sleep deprivation of HD model flies results in exacerbated sleep deficits, indicating that homeostatic regulation of sleep is impaired. Elevated PKA/CREB activity in healthy flies produces patterns of sleep and activity similar to those in our HD models. We were curious whether aberrations in PKA/CREB signaling were responsible for our early-onset sleep/activity phenotypes. Decreasing signaling through the cAMP/PKA pathway suppresses mutHtt-induced developmental lethality. Genetically reducing PKA abolishes sleep/activity deficits in HD model flies, restores the homeostatic response and extends median lifespan. In vivo reporters, however, show dCREB2 activity is unchanged, or decreased when sleep/activity patterns are abnormal, suggesting dissociation of PKA and dCREB2 occurs early in pathogenesis. Collectively, our data suggest that sleep defects may reflect a primary pathological process in HD, and that measurements of sleep and cAMP/PKA could be prodromal indicators of disease, and serve as therapeutic targets for intervention. PMID:26604145

  19. Parkinson's Disease Videos

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  20. Parkinson's Disease Videos

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    Full Text Available ... Education on Parkinson's Disease Expert Briefings: Getting Around: Transportation and Travel with PD Expert Briefings: Sleep and ... for PD: Depression, Anxiety & Psychosis CareMAP: Travel and Transportation: Part 2 CareMAP: Bathroom: Part 1 ¿Cómo Se ...

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    Full Text Available ... many things you can do to maintain and improve your quality of life and live well with Parkinson's disease. ... a Depression Diagnosis? What Are Some Strategies to Improve the Quality of Community Care for PD Patients? CareMAP: Ayudando ...

  2. Parkinson's Disease Videos

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    Full Text Available ... CareMAP: The Caregiving Journey What Medications Help with Cognitive Impairment? Parkinson’s Disease Psychosis: A Caregiver’s Story CareMAP: ... Lobo: Música en vivo con Lobo! Expert Briefings: Cognitive Issues: Advice for Parkinson's Care Partners Are There ...

  3. Parkinson's Disease Videos

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  4. Parkinson's Disease Videos

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  5. Parkinson's Disease Videos

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    Full Text Available ... you can do to maintain and improve your quality of life and live well with Parkinson's disease. Learn More Expert Care Patient Centered Care Centers of Excellence Bringing Care to You Expert Care Programs Professional Education Expert Care Research shows people with Parkinson’s who ...

  6. Parkinson's Disease Videos

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  7. Parkinson's Disease Videos

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    Full Text Available ... to Give There are many ways you can support the fight against Parkinson’s. Whatever form your gift takes, you can be confident that it goes toward ... Briefings: Nutrition and Parkinson's Disease NY Nightly News with Chuck ...

  8. Parkinson's Disease Videos

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    Full Text Available ... Communication and the PD Partnership Expert Briefings: Fatigue, Sleep Disorders and Parkinson's Disease Expert Briefings: What's in the ... and Scheduling: Part 2 What Are the Common Sleep Disorders Encountered in Patients with PD? CareMAP: Planear y ...

  9. Parkinson's Disease Videos

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    Full Text Available ... A A You are here Home PD Library Search library Topic Type Expert Briefings: Marijuana and PD: What Do We Really Know? Nurse Webinars: Nursing Solutions: Improving Caregiver Strain through Science and Model Interventions Expert Briefings: Parkinson's Disease Psychosis: ...

  10. Parkinson's Disease Videos

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  11. Nondipping in Parkinson's Disease

    Directory of Open Access Journals (Sweden)

    Sita Sommer

    2011-01-01

    Full Text Available Objective. The aim of this study was to identify patients with Parkinson's disease who showed loss or decrease of nocturnal blood pressure fall (nondipper patients as a marker of autonomic dysfunction. Presence or absence of orthostatic hypotension was considered to investigate whether alterations in circadian blood pressure pattern are associated with posture-related dysregulation of blood pressure. Methods. 40 patients with Parkinson's disease underwent 24-hour blood pressure monitoring. 21 patients were diagnosed with arterial hypertension and received anti-hypertensive drugs. Nondipper patients were defined as having nocturnal decrease of mean systolic and diastolic blood pressure less than 10%. Presence or absence of orthostatic hypotension was determined by Schellong's test. Results. We identified 35 nondipper patients (88%. Nondipping was detected in 20 patients with orthostatic hypotension (95% and in 15 patients without orthostatic hypotension (79%. 18 patients with hypertensive and 22 patients with normal blood pressure values were detected. Conclusions. In conclusion 24-hour blood pressure monitoring showed a high prevalence of nondipping in 40 patients with Parkinson's disease with and without orthostatic hypotension independent of coexisting arterial hypertension and antihypertensive treatment. 24-hour blood pressure monitoring may be useful to identify non-dipping as a marker of autonomic dysfunction in patients with Parkinson's disease.

  12. Parkinson's Disease Videos

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  13. Parkinson's Disease Videos

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  14. Parkinson's Disease Videos

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  15. Parkinson's Disease Videos

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  16. Parkinson's Disease Videos

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  6. Parkinson's Disease: The Newest Advances

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    Skip Navigation Bar Home Current Issue Past Issues Parkinson's Disease: The Newest Advances Past Issues / Summer 2006 ... Landis What are the risk factors for developing Parkinson's? The clearest risk factor is age. In addition, ...

  7. Routine culture-based screening versus risk-based management for the prevention of early-onset group B streptococcus disease in the neonate: a systematic review.

    Science.gov (United States)

    Kurz, Ella; Davis, Deborah

    2015-04-17

    Early-onset group B streptococcus disease, recognized as the most common cause of early onset neonatal sepsis in developed countries, is transmitted vertically from the group B streptococcus carrier mother to the neonate in the peripartum. Accordingly, early-onset group B streptococcus disease is prevented by halting the transmission of the microorganism from the mother to the infant. Two main methods, routine culture-based screening and risk-based management, may be used in the identification of mothers requiring intrapartum antibiotic prophylaxis in labor. While there are advantages and disadvantages to each, there is limited high level evidence available as to which method is superior. To identify the effectiveness of risk-based management versus routine culture-based screening in the prevention of early-onset group B streptococcus disease in the neonate. This review considered studies which treated pregnant women with intrapartum antibiotic prophylaxis following risk- and culture-based protocols for the prevention of early-onset group B streptococcus disease in the neonate. Types of intervention: This review considered studies that evaluated risk-based management against routine culture-based screening for the prevention of early-onset group B streptococcus disease in the neonate. Types of studies: This review looked for highest evidence available which in this case consisted of one quasi experimental study and eight comparative cohort studies with historical or concurrent control groups. Types of outcomes: Incidence of early-onset group B streptococcus disease in neonates as measured by positive group B streptococcus culture from an otherwise sterile site. Secondary outcomes include neonatal death due to group B streptococcus sepsis and percentage of women who received intrapartum antibiotic prophylaxis. A multi-step search strategy was used to find studies which were limited to the English language and published between January 2000 and June 2013. The quality

  8. Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.

    Science.gov (United States)

    Nicolas, Gaël; Wallon, David; Charbonnier, Camille; Quenez, Olivier; Rousseau, Stéphane; Richard, Anne-Claire; Rovelet-Lecrux, Anne; Coutant, Sophie; Le Guennec, Kilan; Bacq, Delphine; Garnier, Jean-Guillaume; Olaso, Robert; Boland, Anne; Meyer, Vincent; Deleuze, Jean-François; Munter, Hans Markus; Bourque, Guillaume; Auld, Daniel; Montpetit, Alexandre; Lathrop, Mark; Guyant-Maréchal, Lucie; Martinaud, Olivier; Pariente, Jérémie; Rollin-Sillaire, Adeline; Pasquier, Florence; Le Ber, Isabelle; Sarazin, Marie; Croisile, Bernard; Boutoleau-Bretonnière, Claire; Thomas-Antérion, Catherine; Paquet, Claire; Sauvée, Mathilde; Moreaud, Olivier; Gabelle, Audrey; Sellal, François; Ceccaldi, Mathieu; Chamard, Ludivine; Blanc, Frédéric; Frebourg, Thierry; Campion, Dominique; Hannequin, Didier

    2016-05-01

    Causative variants in APP, PSEN1 or PSEN2 account for a majority of cases of autosomal dominant early-onset Alzheimer disease (ADEOAD, onset before 65 years). Variant detection rates in other EOAD patients, that is, with family history of late-onset AD (LOAD) (and no incidence of EOAD) and sporadic cases might be much lower. We analyzed the genomes from 264 patients using whole-exome sequencing (WES) with high depth of coverage: 90 EOAD patients with family history of LOAD and no incidence of EOAD in the family and 174 patients with sporadic AD starting between 51 and 65 years. We found three PSEN1 and one PSEN2 causative, probably or possibly causative variants in four patients (1.5%). Given the absence of PSEN1, PSEN2 and APP causative variants, we investigated whether these 260 patients might be burdened with protein-modifying variants in 20 genes that were previously shown to cause other types of dementia when mutated. For this analysis, we included an additional set of 160 patients who were previously shown to be free of causative variants in PSEN1, PSEN2 and APP: 107 ADEOAD patients and 53 sporadic EOAD patients with an age of onset before 51 years. In these 420 patients, we detected no variant that might modify the function of the 20 dementia-causing genes. We conclude that EOAD patients with family history of LOAD and no incidence of EOAD in the family or patients with sporadic AD starting between 51 and 65 years have a low variant-detection rate in AD genes.

  9. Rare variants in calcium homeostasis modulator 1 (CALHM1 found in early onset Alzheimer's disease patients alter calcium homeostasis.

    Directory of Open Access Journals (Sweden)

    Fanny Rubio-Moscardo

    Full Text Available Calcium signaling in the brain is fundamental to the learning and memory process and there is evidence to suggest that its dysfunction is involved in the pathological pathways underlying Alzheimer's disease (AD. Recently, the calcium hypothesis of AD has received support with the identification of the non-selective Ca(2+-permeable channel CALHM1. A genetic polymorphism (p. P86L in CALHM1 reduces plasma membrane Ca(2+ permeability and is associated with an earlier age-at-onset of AD. To investigate the role of CALHM1 variants in early-onset AD (EOAD, we sequenced all CALHM1 coding regions in three independent series comprising 284 EOAD patients and 326 controls. Two missense mutations in patients (p.G330D and p.R154H and one (p.A213T in a control individual were identified. Calcium imaging analyses revealed that while the mutation found in a control (p.A213T behaved as wild-type CALHM1 (CALHM1-WT, a complete abolishment of the Ca(2+ influx was associated with the mutations found in EOAD patients (p.G330D and p.R154H. Notably, the previously reported p. P86L mutation was associated with an intermediate Ca(2+ influx between the CALHM1-WT and the p.G330D and p.R154H mutations. Since neither expression of wild-type nor mutant CALHM1 affected amyloid ß-peptide (Aß production or Aß-mediated cellular toxicity, we conclude that rare genetic variants in CALHM1 lead to Ca(2+ dysregulation and may contribute to the risk of EOAD through a mechanism independent from the classical Aß cascade.

  10. PSEN1 L226F mutation in a patient with early-onset Alzheimer’s disease in Korea

    Directory of Open Access Journals (Sweden)

    Bagyinszky E

    2016-10-01

    Full Text Available Eva Bagyinszky,1,* Sun Ah Park,2,* Hyung Jun Kim,2 Seong Hye Choi,3 Seong Soo A An,1 SangYun Kim4 1Department of BioNano Technology, Gachon University, Seongnam-si, 2Department of Neurology, Soonchunhyang University Bucheon Hospital, Bucheon, 3Department of Neurology, Inha University School of Medicine, Incheon, 4Department of Neurology, Seoul National University College of Medicine & Neurocognitive Behavior Center, Seoul National University Bundang Hospital, Seongnam-si, Republic of Korea *These authors contributed equally to this work Abstract: In this study, we report a first 226leucine (Leu mutation to phenylalanine (Phe in (PSEN1, CTC>TTC, L226F in Asia from a Korean early-onset Alzheimer’s disease (EOAD patient. Polymerase chain reaction (PCR–single strand conformation polymorphism, sequencing, and in silico predictions were performed. Previously, L226F was reported in EOAD patients by Zekanowski et al and Gómez-Tortosa et al. Disease phenotypes appeared in their thirties, and family history was positive in both cases. In our patient, age of onset was similar (37 years of age, but the mutation seemed to be de novo, since no affected family member was found. This leucine to phenylalanine substitution may cause additional stresses inside the transmembrane region due to large aromatic side chain and increased hydrophobic interactions with hydrocarbon chains in the membrane and its binding partners. Clinical phenotype of the mutation was aggressive progression into neurodegeneration, resulting in rapid cognitive decline. One of the patients was initially diagnosed with frontotemporal dementia, but the diagnosis was revised to AD upon postmortem studies in which Aβ plaques were seen. A second mutation, L226R, was found for the L226 residue. Similar to L226F, the patient with L226R also developed the first symptoms in his 30s, but EOAD was diagnosed in his 40s. These findings suggested that L226 might be an important residue in PSEN1

  11. The Expression of DJ-1 (PARK7) in Normal Human CNS and Idiopathic Parkinson's Disease

    Science.gov (United States)

    Bandopadhyay, Rina; Kingsbury, Ann E.; Cookson, Mark R.; Reid, Andrew R.; Evans, Ian M.; Hope, Andrew D.; Pittman, Alan M.; Lashley, Tammaryn; Canet-Aviles, Rosa; Miller, David W.; McLendon, Chris; Strand, Catherine; Leonard, Andrew J.; Abou-Sleiman, Patrick M.; Healy, Daniel G.; Ariga, Hiroyashi; Wood, Nicholas W.; de Silva, Rohan; Revesz, Tamas; Hardy, John A.; Lees, Andrew J.

    2004-01-01

    Two mutations in the DJ-1 gene on chromosome1p36 have been identified recently to cause early-onset, autosomal recessive Parkinson's disease. As no information is available regarding the distribution of DJ-1 protein in the human brain, in this study we used a monoclonal antibody for DJ-1 to map its distribution in frontal cortex and substantia…

  12. Cerebrospinal fluid levels of catecholamines and its metabolites in Parkinson's disease

    DEFF Research Database (Denmark)

    Dammann Andersen, Andreas; Blaabjerg, Morten; Binzer, Michael

    2017-01-01

    Levodopa (l-DOPA, l-3,4-dihydroxyphenylalanine) is the most effective drug in the symptomatic treatment of Parkinson's disease (PD), but chronic use initiates a maladaptive process leading to l-DOPA-induced dyskinesia (LID). Risk factors for early onset LID include younger age, more severe diseas...

  13. Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease.

    Science.gov (United States)

    Kelsen, Judith R; Dawany, Noor; Moran, Christopher J; Petersen, Britt-Sabina; Sarmady, Mahdi; Sasson, Ariella; Pauly-Hubbard, Helen; Martinez, Alejandro; Maurer, Kelly; Soong, Joanne; Rappaport, Eric; Franke, Andre; Keller, Andreas; Winter, Harland S; Mamula, Petar; Piccoli, David; Artis, David; Sonnenberg, Gregory F; Daly, Mark; Sullivan, Kathleen E; Baldassano, Robert N; Devoto, Marcella

    2015-11-01

    Very early onset inflammatory bowel disease (VEO-IBD), IBD diagnosed at 5 years of age or younger, frequently presents with a different and more severe phenotype than older-onset IBD. We investigated whether patients with VEO-IBD carry rare or novel variants in genes associated with immunodeficiencies that might contribute to disease development. Patients with VEO-IBD and parents (when available) were recruited from the Children's Hospital of Philadelphia from March 2013 through July 2014. We analyzed DNA from 125 patients with VEO-IBD (age, 3 wk to 4 y) and 19 parents, 4 of whom also had IBD. Exome capture was performed by Agilent SureSelect V4, and sequencing was performed using the Illumina HiSeq platform. Alignment to human genome GRCh37 was achieved followed by postprocessing and variant calling. After functional annotation, candidate variants were analyzed for change in protein function, minor allele frequency less than 0.1%, and scaled combined annotation-dependent depletion scores of 10 or less. We focused on genes associated with primary immunodeficiencies and related pathways. An additional 210 exome samples from patients with pediatric IBD (n = 45) or adult-onset Crohn's disease (n = 20) and healthy individuals (controls, n = 145) were obtained from the University of Kiel, Germany, and used as control groups. Four hundred genes and regions associated with primary immunodeficiency, covering approximately 6500 coding exons totaling more than 1 Mbp of coding sequence, were selected from the whole-exome data. Our analysis showed novel and rare variants within these genes that could contribute to the development of VEO-IBD, including rare heterozygous missense variants in IL10RA and previously unidentified variants in MSH5 and CD19. In an exome sequence analysis of patients with VEO-IBD and their parents, we identified variants in genes that regulate B- and T-cell functions and could contribute to pathogenesis. Our analysis could lead to the

  14. Maternal and neonatal risk factors for early-onset group B streptococcal disease: a case control study

    Directory of Open Access Journals (Sweden)

    Al-Kadri HM

    2013-10-01

    Full Text Available Hanan M Al-Kadri,1 Samira S Bamuhair,2 Sameera M Al Johani,3 Namsha A Al-Buriki,1 Hani M Tamim4 1Department of Obstetrics and Gynecology, 2Department of Basic Medical Sciences, 3Microbiology Division, 4Department of Medical Education, College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia Objectives: To identify the prominent maternal and neonatal risk factors associated with early-onset group B streptococcus (EOGBS disease in neonates and to determine their importance by comparing them with a control group. Setting: Neonatal unit at King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia. Patients: Cases were infants <7 days of age with invasive group B streptococcus (GBS disease diagnosed between January 1, 2000 and December 31, 2009. Controls were healthy infants born in the same hospital during the same period having the same birth weight and gestational age category. Main outcome measures: Maternal risk factors for developing EOGBS disease, feto–maternal and neonatal clinical data, their morbidities, mortalities, and length of hospital stay. Results: A total of 99 cases and 200 controls were included. The majority of cases presented in the first 72 hours of life (62/99 [63.9%], of which 87/99 (89.7% had at least one clinical risk factor for the development of EOGBS disease. Mothers of neonates with EOGBS disease were more likely to have GBS bacteriuria (odds ratio [OR] 10.76, 95% confidence interval [CI] 1.24–93.42, infection in the peripartum period (OR 8.92, CI 2.87–27.68, and temperature ≥38°C (OR 7.10, CI 2.50–20.17. GBS disease was associated with premature rupture of membranes and fetal tachycardia (P<0.01 for both. Neonates with EOGBS disease were more likely to have respiratory distress disease and convulsions, require tube feeding, and have longer hospital stays compared with the controls (P<0.01 for all. Stepwise multiple logistic

  15. The skin in Parkinson's disease.

    Science.gov (United States)

    Flint, A

    1977-09-01

    The characteristic oily skin in individuals with parkinsonism has long been observed by clinicians. The oiliness seems to be associated with periods when the disease is most active. This seborrhea has been observed particularly in post-encephalitic parkinsonism, as well as in idiopathic paralysis agitans. It also occurs in phenothiazine-induced parkinsonism.

  16. Imaging movement-related activity in medicated Parkin-associated and sporadic Parkinson's disease

    DEFF Research Database (Denmark)

    van Eimeren, Thilo; Binkofski, Ferdinand; Buhmann, Carsten

    2010-01-01

    Treatment-related motor complications such as dyskinesias are a major problem in the long-term management of Parkinson's disease (PD). In sporadic PD, a relatively early onset of the disease is known to be associated with an early development of dyskinesias. Although linked with early onset...... selected movements. Patients with Parkin-associated and sporadic PD showed no difference in movement-related activation patterns. Moreover, the covariates 'age' and 'disease duration' similarly influenced brain activation in both patient groups. The present finding suggests that a stable long-term motor...

  17. Low Prevalence and Clinical Effect of Vascular Risk Factors in Early-Onset Alzheimer’s Disease

    Science.gov (United States)

    Chen, Yaohua; Sillaire, Adeline Rollin; Dallongeville, Jean; Skrobala, Emilie; Wallon, David; Dubois, Bruno; Hannequin, Didier; Pasquier, Florence; Bombois, Stéphanie; Boutantin, Justine; Cassagnaud, Pascaline; Chen, Yaohua; Delbeuck, Xavier; Delmaire, Christine; Deramecourt, Vincent; Gele, Patrick; Houssein-Foucher, Claude; Jacquemont, Charlotte; Lebert, Florence; Lebouvier, Thibaud; Lopez, Renaud; Mackowiak, Marie-Anne; Maureille, Aurélien; Pasquier, Florence; Petyt, Grégory; Pollet, Marianne; Rollin-Sillaire, Adeline; Schraen, Susanna; Semah, Franck; Vanhoutte, Matthieu

    2017-01-01

    Background: Determinants of early-onset Alzheimer’s disease (EOAD) are not well known. In late-onset AD, vascular risk factors (VRFs) are associated with earlier clinical manifestation. Objective: The objective of this study was to assess the putative association between VRFs and EOAD. Methods: We studied participants with dementia meeting criteria for EOAD (recruited into the French CoMAJ prospective cohort study from 1 June 2009 to 28 February 2014) and age-, gender-matched controls (ratio 1:3, drawn randomly from the French MONA-LISA population-based survey between 2005 and 2007). Demographic data, VRFs, comorbidities, treatments, and APOE genotypes were compared in multivariable logistic regression analyses. Results: We studied 102 participants with dementia (mean±standard deviation age: 59.5±3.8; women: 59.8%) and 306 controls. Compared with controls, EOAD participants had spent less time in formal education (9.9±2.9 versus 11.7±3.8 y; p < 0.0001), were less likely to be regular alcohol consumers (p < 0.0001), had a lower body mass index (–2 kg/m2; p < 0.0004), and a lower mean systolic blood pressure (–6.2 mmHg; p = 0.0036). The prevalence of APOE ɛ4 allele was higher in participants with dementia than in controls (50% versus 29.4%; p = 0.0002), as was the prevalence of depression (48% versus 32%; p < 0.001). Similar results were observed in multivariable analysis. Compared with EOAD participants lacking VRFs, EOAD participants with at least one VRF had a higher prevalence of depression (29.6% versus 53.3%, respectively; p = 0.03). Conclusion: The prevalence of VRFs is not elevated in EOAD patients (in contrast to older AD patients). Extensive genetic testing should be considered more frequently in the context of EOAD. PMID:28984595

  18. Parkinson's Disease Videos

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    Full Text Available ... HELPLINE 1-800-4PD-INFO (473-4636) helpline@parkinson.org Search Our Site General Gift Tribute Gift Moving Day Support a Fundraiser Understanding Parkinson's What Is Parkinson's? Causes & Statistics Early Signs Movement ...

  19. Parkinson's Disease Videos

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    Full Text Available ... Late Stage Parkinson's Expert Briefings: Impulsive and Compulsive Behaviors in Parkinson's Expert Briefings: Complementary Approaches to Parkinson's ... What Do I Do if I Suspect Compulsive Behavior in a Loved One with PD? CareMAP: Planear ...

  20. Parkinson's Disease Videos

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    Full Text Available ... of Exercise on PD Expert Briefings: Parkinson's and Parenting Expert Briefings: Occupational Therapy and Parkinson's: Tips for ... Briefings: Nutrition and Parkinson's CareMAP: When Is It Time to Get Help? Ask the Helpline: Why Does ...

  1. Parkinson's Disease Videos

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    Full Text Available ... Skills for Parkinson's Care Partners Expert Briefings: What's New in Genetics and Parkinson's? Expert Briefings: Understanding the ... Miami, FL 33131 NY: 1359 Broadway, Suite 1509, New York, NY 10018 contact@parkinson.org Press Room ...

  2. Parkinson's Disease Videos

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    Full Text Available ... options are available. Learn More Living with Parkinson's Managing Parkinson's In Your Area Resources & Support PD Library ... otra canción” Expert Briefings: Diagnosis PD, Now What? Managing the First Few Years with Parkinson's Expert Briefings: ...

  3. Parkinson's Disease Videos

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    Full Text Available ... Symptoms of PD Expert Briefings: The Effects of Exercise on PD Expert Briefings: Parkinson's and Parenting Expert ... Non-Motor Symptoms Ask the Helpline: Why Is Exercise Important for People with Parkinson's? How Does Parkinson's ...

  4. Parkinson's Disease Videos

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    Full Text Available ... Late Stage Parkinson's Expert Briefings: Impulsive and Compulsive Behaviors in Parkinson's Expert Briefings: Complementary Approaches to Parkinson's ... Prioritizing Health Needs of the Caregiver Is Compulsive Behavior a Side Effect of PD Medications? CareMAP: Preparing ...

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    Full Text Available ... PD Expert Briefings: Parkinson's and Parenting Expert Briefings: Occupational Therapy and Parkinson's: Tips for Healthy Living Expert ... Expert Briefings: Driving and Parkinson's: Balancing Independence and Safety Expert Briefings: Caring for a Person with Late ...

  6. Diagnosis (Parkinson's Disease)

    Science.gov (United States)

    ... the entire Parkinson's community. Learn more Get Involved Moving Day Walk Parkinson's Champions Create Your Own Fundraiser Advocate With Us Local Resources Find an Event My PD Story Volunteer ... Support a Moving Day Walker Support a Parkinson's Champion Bequests & Planned ...

  7. What Is Parkinson's Disease?

    Science.gov (United States)

    ... the entire Parkinson's community. Learn more Get Involved Moving Day Walk Parkinson's Champions Create Your Own Fundraiser Advocate With Us Local Resources Find an Event My PD Story Volunteer ... Support a Moving Day Walker Support a Parkinson's Champion Bequests & Planned ...

  8. Parkinson's Disease Foundation News

    Science.gov (United States)

    ... the entire Parkinson's community. Learn more Get Involved Moving Day Walk Parkinson's Champions Create Your Own Fundraiser Advocate With Us Local Resources Find an Event My PD Story Volunteer ... Support a Moving Day Walker Support a Parkinson's Champion Bequests & Planned ...

  9. Parkinson's Disease Videos

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    Full Text Available ... Late Stage Parkinson's Expert Briefings: Impulsive and Compulsive Behaviors in Parkinson's Expert Briefings: Complementary Approaches to Parkinson's ... What Do I Do if I Suspect Compulsive Behavior in a Loved One with PD? How Do ...

  10. Parkinson's Disease Videos

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    Full Text Available ... Late Stage Parkinson's Expert Briefings: Impulsive and Compulsive Behaviors in Parkinson's Expert Briefings: Complementary Approaches to Parkinson's ... y Respuestas con todos los presentadores Is Compulsive Behavior a Side Effect of PD Medications? ¿Cómo Se ...

  11. Lateralisation in Parkinson disease

    DEFF Research Database (Denmark)

    Riederer, P.; Jellinger, K. A.; Kolber, P.

    2018-01-01

    Asymmetry of dopaminergic neurodegeneration and subsequent lateralisation of motor symptoms are distinctive features of Parkinson’s disease compared to other forms of neurodegenerative or symptomatic parkinsonism. Even 200 years after the first description of the disease, the underlying causes...... for this striking clinicopathological feature are not yet fully understood. There is increasing evidence that lateralisation of disease is due to a complex interplay of hereditary and environmental factors that are reflected not only in the concept of dominant hemispheres and handedness but also in specific...

  12. Integrated molecular landscape of Parkinson's disease

    NARCIS (Netherlands)

    Klemann, C.J.H.M.; Martens, G.J.; Sharma, M.; Martens, M.B.; Isacson, O.; Gasser, T.; Visser, J.E.; Poelmans, G.J.V.

    2017-01-01

    Parkinson's disease is caused by a complex interplay of genetic and environmental factors. Although a number of independent molecular pathways and processes have been associated with familial Parkinson's disease, a common mechanism underlying especially sporadic Parkinson's disease is still largely

  13. Gender differences in Parkinson's disease

    NARCIS (Netherlands)

    Haaxma, Charlotte A.; Bloem, Bastiaan R.; Borm, George F.; Oyen, Wim J. G.; Leenders, Klaus L.; Eshuis, Silvia; Booij, Jan; Dluzen, Dean E.; Horstink, Martin W. I. M.

    Objective: To investigate gender differences in basic disease characteristics, motor deterioration and nigrostriatal degeneration in Parkinson's disease (PD). Methods: We studied 253 consecutive PD patients who were not receiving levodopa or dopamine agonists ( disease duration Results: Age at onset

  14. Gender differences in Parkinson's disease.

    NARCIS (Netherlands)

    Haaxma, C.A.; Bloem, B.R.; Borm, G.F.; Oyen, W.J.G.; Leenders, K.L.; Eshuis, S.; Booij, J.; Dluzen, D.E.; Horstink, M.W.I.M.

    2007-01-01

    OBJECTIVE: To investigate gender differences in basic disease characteristics, motor deterioration and nigrostriatal degeneration in Parkinson's disease (PD). METHODS: We studied 253 consecutive PD patients who were not receiving levodopa or dopamine agonists (disease duration < or = 10 years). We

  15. Gender differences in Parkinson's disease

    NARCIS (Netherlands)

    Haaxma, Charlotte A.; Bloem, Bastiaan R.; Borm, George F.; Oyen, Wim J. G.; Leenders, Klaus L.; Eshuis, Silvia; Booij, Jan; Dluzen, Dean E.; Horstink, Martin W. I. M.

    2007-01-01

    OBJECTIVE: To investigate gender differences in basic disease characteristics, motor deterioration and nigrostriatal degeneration in Parkinson's disease (PD). METHODS: We studied 253 consecutive PD patients who were not receiving levodopa or dopamine agonists (disease duration < or = 10 years). We

  16. Oxysterols and Parkinson's disease

    DEFF Research Database (Denmark)

    Björkhem, Ingemar; Lövgren-Sandblom, Anita; Leoni, Valerio

    2013-01-01

    Oxysterols are important for cholesterol homeostasis in the brain and may be affected in neurodegenerative diseases. The levels of the brain-derived oxysterol 24S-hydroxycholesterol (24S-OH) have been reported to be markedly reduced in the circulation of patients with Parkinson's disease (PD) (Lee...... et al., Antioxid. Redox Signal. 11 (2009) 407-420). The finding is surprising in view of the fact that other neurodegenerative diseases are associated with relatively modest effects on the circulating levels of 24S-OH. We determined the plasma and cerebrospinal fluid (CSF) levels of 24S-OH and 27......-hydroxycholesterol (27-OH) in patients with PD with different disease duration using a highly accurate method based on isotope dilution-mass spectrometry. All the patients had plasma levels of the different oxysterols within the normal range. When analyzing CSF, 10% of the PD patients were found to have levels of 24...

  17. Psychosis in Parkinson's Disease.

    Science.gov (United States)

    Ffytche, Dominic H; Aarsland, Dag

    2017-01-01

    Although illusions, hallucinations and delusions did not play a prominent role in James Parkinson's original clinical descriptions, the longitudinal view of disease progression he advocated has important lessons for the study of such symptoms today. A focus on longitudinal progression rather than individual symptoms led to the concept of PD psychosis-a spectrum of positive symptoms in Parkinson's disease. The publication of criteria for PD psychosis in 2007 helped unify the disparate set of symptoms, raising their profile and resulting in a rapid expansion of literature focussing on clinical aspects, mechanisms, and treatment. Here we review this literature and the evolving view of PD psychosis. Adding to previous evidence of a prospective risk for dementia and the move to supervised care, key recent developments include: recognition of prevalence increase with disease duration; a broadening of symptoms included in PD psychosis; better characterization of higher visual and cognitive dysfunction risk factors; structural, functional, and neurotransmitter imaging biomarker evidence; and approval of pimavanserin in the United States for the treatment of PD psychosis. The accumulating evidence raises novel questions and directions for future research that promise a better understanding of the clinical management of PD psychosis and its role as a biomarker for PD stage and progression. © 2017 Elsevier Inc. All rights reserved.

  18. Presymptomatic detection of Parkinson's disease.

    Science.gov (United States)

    Jenner, P

    1993-01-01

    Presymptomatic detection of Parkinson's disease is necessary if neuroprotective therapies are to be utilized in its treatment. Various methods (PET, electrophysiology, enzyme assays, olfactory function) may be applicable but none has been rigorously evaluated. Other possible approaches are now considered. Plasma HVA levels (pHVA) in the presence of debrisoquine may reflect cerebral dopamine function. However, there are no detectable differences in pHVA between newly diagnosed and untreated parkinsonian patients and control subjects. Compensatory increases in dopamine turnover may mask a decrease in pHVA in the early stages of the disease. So, at present this technique could not be used as a diagnostic tool. Post-mortem studies of brain in Parkinson's disease may provide clues to biochemical markers indicative of nigral pathology. Mitochondrial complex I activity is reduced in substantia nigra in Parkinson's disease and it was reported also to be markedly reduced in blood platelets. However, subsequent studies suggest that the difference in platelet complex I activity is too small to be diagnostic of Parkinson's disease. There are also selective reductions in brain glutathione levels in Parkinson's disease restricted to substantia nigra, which do not occur in other neurodegenerative disorders and are not due to drug treatment. Importantly, in incidental Lewy body disease (preclinical Parkinson's disease) nigral glutathione levels are reduced to the same degree as in advanced Parkinson's disease. So, some peripheral index of altered glutathione function may be valuable in the early detection of the disease process.

  19. Early-Onset Dementia

    DEFF Research Database (Denmark)

    Konijnenberg, Elles; Fereshtehnejad, Seyed-Mohammad; Kate, Mara Ten

    2017-01-01

    BACKGROUND: Early-onset dementia (EOD) is a rare condition, with an often atypical clinical presentation, and it may therefore be challenging to diagnose. Specialized memory clinics vary in the type of patients seen, diagnostic procedures applied, and the pharmacological treatment given. The aim...... of this study was to investigate quality-of-care indicators in subjects with EOD from 3 tertiary memory clinics in 3 European countries. METHODS: We included 1325 newly diagnosed EOD patients, ages 65 years or younger, between January 1, 2007 and December 31, 2013, from the Danish Dementia Registry...... (Rigshospitalet, Copenhagen), the Swedish Dementia Registry ("SveDem", Karolinska University Hospital, Stockholm), and the Amsterdam Dementia Cohort (VU University Medical Center). RESULTS: The frequency of EOD among all dementia patients was significantly lower in Copenhagen (410, 20%) and Stockholm (284, 21...

  20. Parkinson's Disease Videos

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  13. Parkinson's Disease Videos

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    Full Text Available ... Son las Causas del Parkinson? ¿Existen Otros Trastornos que Tienen Síntomas Similares? CareMAP: Advice for Caregivers from ... las diferentes formas y etapas del Parkinson? ¿Cómo es la progresión del Parkinson? Caregiver Summit 2016: The ...

  14. Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases

    Directory of Open Access Journals (Sweden)

    Neslihan Edeer Karaca

    2016-01-01

    Full Text Available Alterations of immune homeostasis in the gut may result in development of inflammatory bowel disease. A five-month-old girl was referred for recurrent respiratory and genitourinary tract infections, sepsis in neonatal period, chronic diarrhea, perianal abscess, rectovaginal fistula, and hyperemic skin lesions. She was born to second-degree consanguineous, healthy parents. Her elder siblings were lost at 4 months of age due to sepsis and 1 year of age due to inflammatory bowel disease, respectively. Absolute neutrophil and lymphocyte counts, immunoglobulin levels, and lymphocyte subsets were normal ruling out severe congenital neutropenia and classic severe combined immunodeficiencies. Quantitative determination of oxidative burst was normal, excluding chronic granulomatous disease. Colonoscopy revealed granulation, ulceration, and pseudopolyps, compatible with colitis. Very early-onset colitis and perianal disease leading to fistula formation suggested probability of inherited deficiencies of IL-10 or IL-10 receptor. A mutation at position c.G477A in exon of the IL10RB gene, resulting in a stop codon at position p.W159X, was identified. The patient underwent myeloablative hematopoietic stem cell transplantation from full matched father at 11 months of age. Perianal lesions, chronic diarrhea, and recurrent infections resolved after transplantation. IL-10/IL-10R deficiencies must be considered in patients with early-onset enterocolitis.

  15. Doença de Alzheimer esporádica de início precoce Sporadic early onset Alzheimer´s disease

    Directory of Open Access Journals (Sweden)

    Annibal Truzzi

    2005-01-01

    Full Text Available A doença de Alzheimer (DA é a principal causa de demência. Um subgrupo de pacientes apresenta sua forma familiar ou precoce (Alzheimer's disease (AD is the main cause of dementia. A subgroup of patients has the familial or early-onset (<65 years form of AD, with rapid course and a dominant genetic transmission through many generations. We report a case of a patient without a positive familiar history for AD, who presented early memory problems and progressive functional and cognitive (speech, praxis, executive functions e viso-spatial habilities decline. Behavioural (imnsonia, psychomotor agitation and hypersexuality and psychological (depression symptoms of AD were noticed in different stages of the disease. Structural and functional neuroimaging techniques showed impairment of posterior cortical areas. Early onset AD can be confounded with psychiatric disorders especially when there is no familiar history for AD. The presenile impact on both patient and family is intense and treatment in the early stages is very important to reduce patient and caregivers' burden.

  16. Cerebrospinal Fluid Aβ43 Is Reduced in Early-Onset Compared to Late-Onset Alzheimer’s Disease, But Has Similar Diagnostic Accuracy to Aβ42

    Directory of Open Access Journals (Sweden)

    Camilla Lauridsen

    2017-06-01

    Full Text Available Background: Amyloid beta 1–43 (Aβ43 may be a useful additional biomarker for diagnosing Alzheimer’s disease (AD. We have investigated cerebrospinal fluid (CSF levels of Aβ43 in patients with early-onset AD in contrast to levels in late-onset AD. For comparison, in addition to the ‘core’ biomarkers, several other analytes were also determined [YKL-40, neurofilament light (NF-L, glial fibrillary acidic protein (GFAP, and progranulin].Material and Methods: Cerebrospinal fluid samples were obtained from patients with early-onset AD (age ≤ 62, n = 66, late-onset AD (age ≥ 68, n = 25, and groups of cognitively intact individuals (age ≤ 62, n = 41, age ≥ 68, n = 39. Core CSF AD biomarkers [amyloid beta 1–42 (Aβ42, total tau, phosphorylated tau] were analyzed, as well as levels of Aβ43 and other analytes, using commercially available enzyme-linked immunosorbent assays.Results: Cerebrospinal fluid Aβ43 was significantly reduced in early-onset AD compared to late-onset AD (14.8 ± 7.3 vs. 21.8 ± 9.4 pg/ml, respectively, whereas the levels of Aβ42 in the two AD groups were not significantly different (474.9 ± 142.0 vs. 539.6 ± 159.9 pg/ml, respectively. Aβ43 and all core biomarkers were significantly altered in patients with AD compared to corresponding controls. NF-L was significantly increased in early-onset AD compared to younger controls, an effect not found between the older groups. Relationships between the Aβ peptides and tau proteins, YKL-40, NF-L, GFAP and progranulin were also investigated without finding marked associations. However, age-associated increases in levels of tau proteins, YKL-40, NF-L and GFAP were found with respect to age in healthy controls. Results for these other analytes were similar to previously published data. Aβ43 did not improve diagnostic accuracy in either AD group compared to Aβ42. Discussion: Cerebrospinal fluid Aβ43, but not Aβ42 levels, varied significantly with age in patients with

  17. Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease.

    Science.gov (United States)

    Conrad, Máire A; Dawany, Noor; Sullivan, Kathleen E; Devoto, Marcella; Kelsen, Judith R

    2017-12-01

    Very early onset inflammatory bowel disease, diagnosed in children ≤5 years old, can be the initial presentation of some primary immunodeficiencies. In this study, we describe a 17-month-old boy with recurrent infections, growth failure, facial anomalies, and inflammatory bowel disease. Immune evaluation, whole-exome sequencing, karyotyping, and methylation array were performed to evaluate the child's constellation of symptoms and examination findings. Whole-exome sequencing revealed that the child was homozygous for a novel variant in ZBTB24, the gene associated with immunodeficiency, centromere instability, and facial anomalies type-2 syndrome. This describes the first case of inflammatory bowel disease associated with immunodeficiency, centromere instability, and facial anomalies type-2 syndrome in a child with a novel disease-causing mutation in ZBTB24 found on whole-exome sequencing.

  18. Parkinson's Disease Videos

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  1. A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.

    Science.gov (United States)

    Kelsen, Judith R; Dawany, Noor; Martinez, Alejandro; Martinez, Alejuandro; Grochowski, Christopher M; Maurer, Kelly; Rappaport, Eric; Piccoli, David A; Baldassano, Robert N; Mamula, Petar; Sullivan, Kathleen E; Devoto, Marcella

    2015-11-18

    Children with very early-onset inflammatory bowel disease (VEO-IBD), those diagnosed at less than 5 years of age, are a unique population. A subset of these patients present with a distinct phenotype and more severe disease than older children and adults. Host genetics is thought to play a more prominent role in this young population, and monogenic defects in genes related to primary immunodeficiencies are responsible for the disease in a small subset of patients with VEO-IBD. We report a child who presented at 3 weeks of life with very early-onset inflammatory bowel disease (VEO-IBD). He had a complicated disease course and remained unresponsive to medical and surgical therapy. The refractory nature of his disease, together with his young age of presentation, prompted utilization of whole exome sequencing (WES) to detect an underlying monogenic primary immunodeficiency and potentially target therapy to the identified defect. Copy number variation analysis (CNV) was performed using the eXome-Hidden Markov Model. Whole exome sequencing revealed 1,380 nonsense and missense variants in the patient. Plausible candidate variants were not detected following analysis of filtered variants, therefore, we performed CNV analysis of the WES data, which led us to identify a de novo whole gene deletion in XIAP. This is the first reported whole gene deletion in XIAP, the causal gene responsible for XLP2 (X-linked lymphoproliferative Disease 2). XLP2 is a syndrome resulting in VEO-IBD and can increase susceptibility to hemophagocytic lymphohistocytosis (HLH). This identification allowed the patient to be referred for bone marrow transplantation, potentially curative for his disease and critical to prevent the catastrophic sequela of HLH. This illustrates the unique etiology of VEO-IBD, and the subsequent effects on therapeutic options. This cohort requires careful and thorough evaluation for monogenic defects and primary immunodeficiencies.

  2. Parkinson disease and positron tomography

    International Nuclear Information System (INIS)

    Baron, J.C.

    1984-10-01

    Physiopathologic investigations of Parkinson disease and parkinsonian syndrome using positron tomography are briefly reviewed: study of cerebral blood flow and metabolism; effects of L-DOPA; study of dopaminergic receptors and of 18 F-Fluoro-L-DOPA incorporation [fr

  3. Parkinson's Disease Videos

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  4. Parkinson's Disease Videos

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  10. Parkinson's Disease Videos

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  11. Pain in Parkinson's Disease

    Science.gov (United States)

    ... the entire Parkinson's community. Learn more Get Involved Moving Day Walk Parkinson's Champions Create Your Own Fundraiser Advocate With ... by a physical therapist Get active and keep moving. Exercise helps ... 30-45 minutes daily. Walking, swimming, yoga, tai chi, dancing, etc. are all ...

  12. Mobility (Parkinson's Disease)

    Science.gov (United States)

    ... the entire Parkinson's community. Learn more Get Involved Moving Day Walk Parkinson's Champions Create Your Own Fundraiser Advocate With ... might seem counterintuitive, but to increase your confidence moving, you have to ... as you are able. Walk with a friend or family member. Exercise does ...

  13. Parkinson's Disease Videos

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    Full Text Available ... PD Expert Briefings: Parkinson's and Parenting Expert Briefings: Occupational Therapy and Parkinson's: Tips for Healthy Living Expert ... Building Blocks for Creative Caregiving CareMAP: Managing Caregiver Stress Why We Walk at Moving Day CareMAP: End- ...

  14. Nutraceuticals in Parkinson's Disease.

    Science.gov (United States)

    Hang, Liting; Basil, Adeline Henry; Lim, Kah-Leong

    2016-09-01

    Current pharmacological strategies for Parkinson's disease (PD), the most common neurological movement disorder worldwide, are predominantly symptom relieving and are often plagued with undesirable side effects after prolonged treatment. Despite this, they remain as the mainstay treatment for PD due to the lack of better alternatives. Nutraceuticals are compounds derived from natural food sources that have certain therapeutic value and the advent of which has opened doors to the use of alternative strategies to tackle neurodegenerative diseases such as PD. Notably, nutraceuticals are able to position themselves as a "safer" strategy due to the fact that they are naturally derived compounds, therefore possibly having less side effects. Significant efforts have been put into better comprehending the role of nutraceuticals in PD, and we will look at some of them in this review. Broadly speaking, these compounds execute their positive effects via modulating signalling pathways, inhibiting oxidative stress, inflammation and apoptosis, as well as regulating mitochondrial homoeostasis. Importantly, we will highlight how a component of green tea, epigallocatechin-3-gallate (EGCG), confers neuroprotection in PD via its ability to activate AMP kinase and articulate how its beneficial effects in PD are possibly due to enhancing mitochondrial quality control.

  15. Therapeutic Dancing for Parkinson's Disease

    Directory of Open Access Journals (Sweden)

    Lorenna Pryscia Carvalho Aguiar

    2016-06-01

    Full Text Available Therapeutic dancing has been advocated as an effective adjunct to conventional physical therapies for people living with Parkinson's disease (PD. This systematic review evaluates studies on the outcomes of different dance genres on mobility and quality of life in PD. We searched databases including CINHAL (1982–2015, Medline (1922–2015, Scopus (1996–2015, Web of Science (2002–2015, Embase (2007–2015, PEDro (1999–2015 and the Cochrane Library (1996–2015. The key words were: Parkinson's disease, Parkinson*, Parkinsonism, dance, dance therapy, dance genres, safety, feasibility, and quality of life. Two independent investigators reviewed the texts. Only randomized controlled trials, quasirandomized controlled trials, and case series studies were included. There was emerging evidence that therapeutic dance can be safe and feasible for people with mild to moderately severe PD, with beneficial effects on walking, freezing of gait, and health related quality of life.

  16. Gene Therapy for Parkinson's Disease

    Directory of Open Access Journals (Sweden)

    Rachel Denyer

    2012-01-01

    Full Text Available Current pharmacological and surgical treatments for Parkinson's disease offer symptomatic improvements to those suffering from this incurable degenerative neurological disorder, but none of these has convincingly shown effects on disease progression. Novel approaches based on gene therapy have several potential advantages over conventional treatment modalities. These could be used to provide more consistent dopamine supplementation, potentially providing superior symptomatic relief with fewer side effects. More radically, gene therapy could be used to correct the imbalances in basal ganglia circuitry associated with the symptoms of Parkinson's disease, or to preserve or restore dopaminergic neurons lost during the disease process itself. The latter neuroprotective approach is the most exciting, as it could theoretically be disease modifying rather than simply symptom alleviating. Gene therapy agents using these approaches are currently making the transition from the laboratory to the bedside. This paper summarises the theoretical approaches to gene therapy for Parkinson's disease and the findings of clinical trials in this rapidly changing field.

  17. Noradrenaline and Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Claire eDelaville

    2011-05-01

    Full Text Available Parkinson’s disease (PD is characterized by the degeneration of dopamine (DA neurons in the substantia nigra pars compacta, and motor symptoms including bradykinesia, rigidity and tremor at rest. These symptoms are manifest when around 70% of striatal DA is lost. In addition to motor deficits, PD is also characterized by the manifestation of non-motor symptoms. However, depletion of DA alone in animal models has failed to simultaneously elicit both the motor and non-motor deficits of PD because the disease is a multi-system disorder that features a profound loss of other neurotransmitter systems. There is growing evidence that additional loss of noradrenaline (NA neurons of the locus coeruleus, the principal source of NA in the brain, could be involved in the clinical expression of motor as well as in non-motor deficits. In the present review, we analyzed the latest data obtained from animal models of parkinsonism and from parkinsonian patients providing evidence for the implication of NA in the pathophysiology of PD. Recent studies have shown that NA depletion alone or combined with DA depletion resulted in motor as well as in non-motor dysfunctions. In addition, by using selective agonists and antagonists of alpha receptors we, and others, have shown that α2 receptors are implicated in the control of motor activity and that α2 receptor antagonists can improve PD motor symptoms as well as L-Dopa-induced dyskinesia. Here we provide arguments that the loss of NA neurons in PD has an impact on all PD symptoms and that the association of NAergic agents to dopaminergic medication can be beneficial in the treatment of the disease.

  18. Parkinson's Disease Videos

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    Full Text Available ... symptoms, how it is diagnosed and what treatment options are available. Learn More Living with Parkinson's Managing ... of Sleep? Expert Briefings: Depression and PD: Treatment Options CareMAP: Plans and Scheduling: Part 1 Ask the ...

  19. Parkinson's Disease Videos

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    Full Text Available ... of Exercise for PD Patients? Jose Maria Lobo: Musica en vivo con Lobo! Are There Any Ways ... Cómo Se Trata el Parkinson? Jose Maria Lobo: Música en vivo con Lobo! How Do I Talk ...

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    Full Text Available ... Library Search library Topic Type Living Alone: Home Safety and Management in PD Expert Briefings: Marijuana and ... Expert Briefings: Driving and Parkinson's: Balancing Independence and Safety Expert Briefings: Caring for a Person with Late ...

  1. Parkinson's Disease Videos

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    Full Text Available ... who seek skilled care are at a lower risk of complications and have better quality of life. Learn More Research Research We Fund Parkinson's Outcomes Project Grant Opportunities Science News & Progress Patient Engagement Research ...

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  3. Parkinson's Disease Videos

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  8. Parkinson's Disease Videos

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  9. Parkinson's Disease Videos

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  10. Parkinson's Disease Videos

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  11. Parkinson's Disease Videos

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  12. Parkinson's Disease Videos

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  14. Parkinson's Disease Videos

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  15. Parkinson's Disease Videos

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  16. Parkinson's Disease Videos

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  17. Parkinson's Disease Videos

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  19. Parkinson's Disease Videos

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  1. Parkinson's Disease Videos

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  6. Parkinson's Disease Videos

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  7. Dysphagia in Parkinson's Disease.

    Science.gov (United States)

    Suttrup, Inga; Warnecke, Tobias

    2016-02-01

    More than 80 % of patients with Parkinson's disease (PD) develop dysphagia during the course of their disease. Swallowing impairment reduces quality of life, complicates medication intake and leads to malnutrition and aspiration pneumonia, which is a major cause of death in PD. Although the underlying pathophysiology is poorly understood, it has been shown that dopaminergic and non-dopaminergic mechanisms are involved in the development of dysphagia in PD. Clinical assessment of dysphagia in PD patients is challenging and often delivers unreliable results. A modified water test assessing maximum swallowing volume is recommended to uncover oropharyngeal dysphagia in PD. PD-specific questionnaires may also be useful to identify patients at risk for swallowing impairment. Fiberoptic endoscopic evaluation of swallowing and videofluoroscopic swallowing study are both considered to be the gold standard for evaluation of PD-related dysphagia. In addition, high-resolution manometry may be a helpful tool. These instrumental methods allow a reliable detection of aspiration events. Furthermore, typical patterns of impairment during the oral, pharyngeal and/or esophageal swallowing phase of PD patients can be identified. Therapy of dysphagia in PD consists of pharmacological interventions and swallowing treatment by speech and language therapists (SLTs). Fluctuating dysphagia with deterioration during the off-state should be treated by optimizing dopaminergic medication. The methods used during swallowing treatment by SLTs shall be selected according to the individual dysphagia pattern of each PD patient. A promising novel method is an intensive training of expiratory muscle strength. Deep brain stimulation does not seem to have a clinical relevant effect on swallowing function in PD. The goal of this review is giving an overview on current stages of epidemiology, pathophysiology, diagnosis, and treatment of PD-associated dysphagia, which might be helpful for neurologists

  8. [A case report of early-onset Alzheimer's disease with multiple psychotic symptoms, finally diagnosed as APPV717I mutation by genetic testing].

    Science.gov (United States)

    Ishimaru, Takashi; Ochi, Shinichiro; Matsumoto, Teruhisa; Yoshida, Taku; Abe, Masao; Toyota, Yasutaka; Fukuhara, Ryuji; Tanimukai, Satoshi; Ueno, Shu-ichi

    2013-01-01

    It is difficult to confirm a diagnosis of early-onset Alzheimer's disease (EOAD) because patients sometimes have non-specific cortical features, such as psychiatric symptoms, executive functional impairment, and pyramidal symptoms, along with typical symptoms, such as recent memory impairment and disorientation. We encountered a patient with multiple psychotic symptoms, finally diagnosed with EOAD on genetic testing. A right-handed sixty-year-old man, whose mother was suspected of having dementia, developed memory impairment at the age of fifty, disorientation at the age of fifty-six, and both visual hallucination and dressing apraxia at the age of fifty-nine. After admission to a psychiatric hospital for treatment, his symptoms disappeared with antipsychotic medication. However, his ADL were declining and so he was referred to our university hospital. He had frontal lobe symptoms, pyramidal signs, and extrapyramidal signs with severe dementia. Neuropsychological examinations were not possible because of sedation. On brain MRI, he showed diffuse atrophy of the cerebral cortex and hippocampus. HMPO-SPECT showed hypoperfusion of cerebral cortices diffusely. We decided to perform genetic testing because he had both family and alcohol abuse histories. He showed EOAD with V717I mutation of the amyloid precursor protein gene. After the discontinuation of antipsychotics, excessive sedation and extrapyramidal signs disappeared. A dose of 10 mg of donepezil was effective to improve motivation and activity, and his mini mental examination score was calculable after recovery. The case supports usefulness of applying genetic testing for Alzheimer's disease to patients with early onset dementia, even when they do not have a family history.

  9. Strong family history and early onset of schizophrenia: about 2 ...

    African Journals Online (AJOL)

    Schizophrenia is a highly heritable psychotic disorder and high genetic loading is associated with early onset of the disease. The outcome of schizophrenia has also been linked with the age of onset as well as the presence of family history of the disease. Therefore families with patients with early onset Schizophrenia are ...

  10. Early onset type 2 diabetes

    DEFF Research Database (Denmark)

    Bo, A; Thomsen, R W; Nielsen, J S

    2018-01-01

    was more frequent and meeting physical activity recommendations less likely in persons with early-onset type 2 DM. CONCLUSIONS: We found a clear age-gradient, with increasing prevalence of clinical and behavioural risk factors the younger the onset age of type 2 DM. Younger persons with early-onset type 2......AIM: To examine the association between early onset of type 2 diabetes (DM) and clinical and behavioural risk factors for later diabetes complications. METHODS: We conducted a cross-sectional study of 5115 persons with incident type 2 DM enrolled during 2010-2015 in the Danish Centre for Strategic...... Research in Type 2 Diabetes-cohort. We compared risk factors at time of diagnosis among those diagnosed at ≤45 years (early-onset) with diagnosis age 46-55, 56-65 (average-onset = reference), 66-75, and >75 years (late-onset). Prevalence ratios (PRs) were computed using Poisson regression. RESULTS: Poor...

  11. Cerebellar ataxia of early onset

    International Nuclear Information System (INIS)

    Yamashita, Sumimasa; Miyake, Shota; Yamada, Michiko; Iwamoto, Hiroko; Yamada, Kazuhiko.

    1989-01-01

    Eight cases of childhood cerebellar ataxia were reported. All these cases showed chronic cerebellar ataxia with early onset, and the other diseases of cerebellum such as infections, neoplasms and storage diseases were excluded by clinical symptoms and laboratory findings including blood counts, blood chemistry, lactate, pyruvate, ceruloplasmine, urinalysis, serum immunoglobulins, amino acid analysis in blood and urine, CSF analysis, leukocyte lysosomal enzymes, MCV, EMG, EEG and brain X-CT. Two pairs of siblings were included in this study. The clinical diagnosis were cerebellar type (5), spinocerebellar type (1), one Marinesco-Sjoegren syndrome and undetermined type (1). The age of onset was 1 to 5 years. The chief complaint was motor developmental delay in 6 cases; among them 5 patients could walk alone at the ages of 2 to 3 years'. Mental retardation was observed in 7 cases and epilepsy in 2. TRH was effective in 5 cases. The MRI study revealed that the area of medial sagittal slice of the cerebellum was reduced significantly in all cases and also that of pons was reduced in 5 cases. Different from typical adult onset spinocerebellar degenerations, most of the present cases have achieved slow developmental milestones and the clinical course was not progressive. Genetic factors are suspected in the pathogenesis of this disease in some cases. (author)

  12. Managing Parkinson's disease with continuous dopaminergic stimulation

    NARCIS (Netherlands)

    Wolters, Erik; Lees, Andrew J.; Volkmann, Jens; van Laar, Teus; Hovestadt, Ad

    The pathophysiology of Parkinson's disease is marked by the loss of dopaminergic neurons, which leads to striatal dopaminergic deficiency. This causes resting tremor, hypokinesia, rigidity, bradykinesia, and loss of postural reflexes. Most current treatments for Parkinson's disease aim to restore

  13. Non-motor symptoms of Parkinson's disease

    National Research Council Canada - National Science Library

    Chaudhuri, K. Ray

    2009-01-01

    ... dysfunction of Parkinson's disease 95 Daisy L. Whitehead and Richard. G. Brown 9 Depression, anxiety and apathy in Parkinson's disease 107 David A. Gallagher and Anette Schrag 10 Dementia in Pa...

  14. Neuregulins, Neuroprotection and Parkinson's Disease

    National Research Council Canada - National Science Library

    Yurek, David M; Seroogy, Kim B

    2006-01-01

    ... s disease, in primary neuronal cultures of midbrain dopamine cells, and in a dopaminergic cell line. Overall, results from these studies may form the basis for the therapeutic application of neuregulins to the treatment of neurotoxin-induced neurodegenerative disorders such as Parkinson's disease.

  15. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... Young Onset Parkinson Conference: Lessons Learned How Does the DBS Device Work? CareMAP: Cambios para Realizar en Casa, Parte 1 CareMAP: Mealtime and Swallowing: Part 1 What Do I Do if I Suspect Compulsive Behavior ...

  16. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... Expert Briefings: Caring for a Person with Late Stage Parkinson's Expert Briefings: Impulsive and Compulsive Behaviors in ... Surgery? CareMAP: Managing Caregiver Stress CareMAP: End-of-Life Care Natalie Diaz, MD, Harbor-UCLA Medical Center: “ ...

  17. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... Tips for Care Partners Nurse Webinars: Nursing Solutions: Innovations in PD Nurse Education CareMAP: Managing Advanced Parkinson's ... Medications? What to Expect Emotionally What are some strategies to prevent falls in PD patients? CareMAP: Mealtime ...

  18. Parkinson's Disease Videos

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    Full Text Available ... Caregiver Stress CareMAP: Getting Dressed CareMAP: End-of-Life Care CareMAP: Thinking Changes: Part 1 Adolfo Diaz, PTA, NPF - National Parkinson Foundation CareMAP: Challenges and Rewards of Caregiving What Are the Risks ...

  19. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... Sleep: Part 2 How Does the DBS Device Work? CareMAP: The Caregiving Journey CareMAP: Cambios para Realizar ... MAPC - Parkinson- Pasion, Positivismo y Participacion” CareMAP: Balancing Life and Caregiving CareMAP: Travel and Transportation: Part 1 ...

  20. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... What Does a Caregiver Need to Know About Cognitive Impairment? CareMAP: Movimientos y Caídas, Parte 1 How ... CareMAP: Movimientos y Caídas, Parte 2 Expert Briefings: Cognitive Issues: Advice for Parkinson's Care Partners Caregiver Summit ...

  1. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... Bringing Care to You Expert Care Programs Professional Education Expert Care Research shows people with Parkinson’s who seek skilled care are at a lower risk of complications and have better quality of life. Learn More Research Research We Fund Parkinson's Outcomes ...

  2. Parkinson's Disease Videos

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    Full Text Available ... PTA, NPF - National Parkinson Foundation CareMAP: Managing Caregiver Stress CareMAP: End-of-Life Care CareMAP: Thinking Changes: ... and Delusions How Does Depression Affect the Patient's Family and Social Network? CareMAP: Medicamentos y la Salud ...

  3. Parkinson's Disease Videos

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    Full Text Available ... Psychosis: A Caregiver’s Story CareMAP: Medications and General Health Part 1 CareMAP: Las Actividades en Casa What ... la Enfermedad de Parkinson CareMAP: Medications and General Health Part 2 CareMAP: El Descanso y el Sueño, ...

  4. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... Parkinson’s Wellness Program: Step by Step CareMAP: Balancing Life and Caregiving Young Onset Parkinson Conference: Lessons Learned CareMAP: Travel and Transportation: Part 1 How Does the DBS Device Work? CareMAP: Mealtime and Swallowing: Part 1 CareMAP: Cambios ...

  5. Parkinson's Disease Videos

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    Full Text Available ... Improving Parkinson's Care Everywhere CareMAP: El Descanso y el Sueño, Parte 1 CareMAP: La Alimentación y la Deglución, ... and Swallowing: Part 2 CareMAP: El Descanso y el Sueño, Parte 2 What Does a Caregiver Need to ...

  6. Parkinson's Disease Videos

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    Full Text Available ... Following a Medication Schedule? CareMAP: Medications and General Health Part 1 Ask the Helpline: What Is a ... Discussion ¿Cómo Se Diagnostica el Parkinson? CareMAP: Prioritizing Health Needs of the Caregiver CareMAP: Putting Things in ...

  7. Parkinson's Disease Videos

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    Full Text Available ... Care for PD Patients? CareMAP: Bathroom: Part 2 What Do Caregivers Need to Know? Why Is Comprehensive Care or ... out some of our most read additions below: What You and Your Family Should Know Medications Fitness Counts Caring & Coping Caregiver's Guide Managing Parkinson's Mid-Stride: A Treatment Guide ...

  8. Parkinson's Disease Videos

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    Full Text Available ... Following a Medication Schedule? CareMAP: Medications and General Health Part 1 What Is Patient-Centered Care? Hallucinations ... Thinking Changes: Part 2 CareMAP: Medications and General Health Part 2 ¿Cómo Se Diagnostica el Parkinson? CareMAP: ...

  9. Parkinson's Disease Videos

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    Full Text Available ... Overlooked PD Symptoms Nursing Solutions: PD Medication Adherence Challenges Jose Maria Lobo y Voces Del Párkinson: “Soy ... NY Nightly News with Chuck Scarborough Expert Briefings: Challenges of Advanced Parkinson's and Tips for Better Living ...

  10. Parkinson's Disease Videos

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    Full Text Available ... Statistics Early Signs Movement Symptoms Non-Movement Symptoms Diagnosis Treatment Understanding Parkinson's There is a lot to ... Soy el compas de otra canción” Expert Briefings: Diagnosis PD, Now What? Managing the First Few Years ...

  11. Parkinson's Disease Videos

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    Full Text Available ... Solutions: PD Medication Adherence Challenges Jose Maria Lobo y Voces Del Párkinson: “Soy el compas de otra ... Solutions: Improving Parkinson's Care Everywhere CareMAP: La Alimentación y la Deglución, Parte 1 CareMAP: El Baño, Parte ...

  12. Parkinson's Disease Videos

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    Full Text Available ... MAPC - Parkinson- Pasion, Positivismo y Participacion” CareMAP: Balancing Life and Caregiving CareMAP: Travel and Transportation: Part 1 ... el Sueño, Parte 2 Dealing with Dementia CareMAP: Life Beyond This Life Is Compulsive Behavior a Side ...

  13. Parkinson's Disease Videos

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    Full Text Available ... Caregivers Living with Parkinson's While living with PD can be challenging, there are many things you can do to maintain and improve your quality of ... Ways to Give There are many ways you can support the fight against Parkinson’s. Whatever form your ...

  14. Parkinson's Disease Videos

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    Full Text Available ... Health Part 2 How Does the DBS Device Work? ¿Cómo Se Diagnostica el Parkinson? CareMAP: Cambios para ... Depression, Anxiety & Psychosis What Are Some Strategies for Problems with Urination? CareMAP: Changes Around the House: Part ...

  15. Parkinson's Disease Videos

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    Full Text Available ... What Does a Caregiver Need to Know About Cognitive Impairment? CareMAP: Getting Dressed How Do I Manage ... Tips for Following a Medication Schedule? Expert Briefings: Cognitive Issues: Advice for Parkinson's Care Partners CareMAP: Medications ...

  16. Parkinson's Disease Videos

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    Full Text Available ... Swallowing: Part 1 CareMAP: Cambios para Realizar en Casa, Parte 1 What Do I Do if I ... la progresión del Parkinson? CareMAP: Las Actividades en Casa How Can Falls Be Prevented? How Can Caregivers ...

  17. Parkinson's Disease Videos

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    Full Text Available ... Help CareMAP: Peace in Caring CareMAP: Rest and Sleep: Part 2 What Are the Causes of Parkinson's ... to Get Help? Unconditional Love CareMAP: Rest and Sleep: Part 1 CareMAP: The Caregiving Journey Caregiver Summit ...

  18. Parkinson's Disease Videos

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    Full Text Available ... One Is It? CareMAP: El Descanso y el Sueño, Parte 1 Expert Briefings: What's in the PD ... Care Between Appointments? CareMAP: El Descanso y el Sueño, Parte 2 Hallucinations and Parkinson's with Dr. Friedman ...

  19. Parkinson's Disease Videos

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    Full Text Available ... Expert Briefings: Nutrition and Parkinson's CareMAP: End-of-Life Care CareMAP: Thinking Changes: Part 1 Ask the ... Medicinal: “Terapia fisica para el Parkinson” CareMAP: Balancing Life and Caregiving CareMAP: Travel and Transportation: Part 1 ...

  20. Parkinson's Disease Videos

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    Full Text Available ... Improving Parkinson's Care Everywhere CareMAP: El Descanso y el Sueño, Parte 1 CareMAP: La Alimentación y la Deglución, ... That Have Similar Symptoms? CareMAP: El Descanso y el Sueño, Parte 2 How Does Depression Affect the Patient's ...

  1. Parkinson's Disease Videos

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    Full Text Available ... Expert Briefings: Nutrition and Parkinson's CareMAP: End-of-Life Care CareMAP: Thinking Changes: Part 1 Ask the Helpline: Why Does Caregiving Change ... Medicinal: “Terapia fisica para el Parkinson” CareMAP: Balancing Life and Caregiving ... and Transportation: Part 1 Why Dance for PD? CareMAP: Mealtime and ...

  2. Parkinson's Disease Videos

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    Full Text Available ... CareMAP: Dealing with Dementia CareMAP: Medications and General Health Part 1 CareMAP: Cambios en el Pensamiento y ... 2 CareMAP: Getting Dressed CareMAP: Medications and General Health Part 2 ¿Cómo Se Diagnostica el Parkinson? Adolfo ...

  3. Parkinson's Disease Videos

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    Full Text Available ... What Does a Caregiver Need to Know About Cognitive Impairment? CareMAP: Movimientos y Caídas, Parte 2 How ... para Realizar en Casa, Parte 1 Expert Briefings: Cognitive Issues: Advice for Parkinson's Care Partners CareMAP: Prioritizing ...

  4. Parkinson's Disease Videos

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    Full Text Available ... Your Area Resources & Support PD Library Legal, Financial, & Insurance Matters Blog For Caregivers Living with Parkinson's While ... Following a Medication Schedule? CareMAP: Medications and General Health Part 1 Panel de Expertos: Sesión de Preguntas ...

  5. Parkinson's Disease Videos

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    Full Text Available ... Story CareMAP: Activities at Home Aware in Care: Real Stories CareMAP: Caring for Someone with Advanced Parkinson's ... Expert Briefings: Depression and PD: Treatment Options CareMAP: Travel and Transportation: Part 2 Ask the Helpline: What ...

  6. Parkinson's Disease Videos

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    Full Text Available ... 2 ¿Cómo Se Diagnostica el Parkinson? CareMAP: Prioritizing Health Needs of the Caregiver What Is the Impact of PD Medications on Excessive Daytime Sleepiness? Is Compulsive Behavior a Side Effect of PD Medications? CareMAP: Preparing Paid Caregivers What ...

  7. Role of rasagiline in treating Parkinson?s disease: Effect on disease progression

    OpenAIRE

    Malaty, Irene A; Fernandez, Hubert H

    2009-01-01

    Rasagiline is a second generation, selective, irreversible monoamine oxidase type B (MAO-B) inhibitor. It has demonstrated efficacy in monotherapy for early Parkinson?s disease (PD) patients in one large randomized, placebo-controlled trial (TVP-1012 in Early Monotherapy for Parkinson?s Disease Outpatients), and has shown ability to reduce off time in more advanced PD patients with motor fluctuations in two large placebo-controlled trials (Parkinson?s Rasagiline: Efficacy and Safety in the Tr...

  8. Metabolic Imaging in Parkinson Disease.

    Science.gov (United States)

    Meles, Sanne K; Teune, Laura K; de Jong, Bauke M; Dierckx, Rudi A; Leenders, Klaus L

    2017-01-01

    This review focuses on recent human 18 F-FDG PET studies in Parkinson disease. First, an overview is given of the current analytic approaches to metabolic brain imaging data. Next, we discuss how 18 F-FDG PET studies have advanced understanding of the relation between distinct brain regions and associated symptoms in Parkinson disease, including cognitive decline. In addition, the value of 18 F-FDG PET studies in differential diagnosis, identifying prodromal patients, and the evaluation of treatment effects are reviewed. Finally, anticipated developments in the field are addressed. © 2017 by the Society of Nuclear Medicine and Molecular Imaging.

  9. Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

    NARCIS (Netherlands)

    Lesage, S.; Drouet, V.; Majounie, E.; Deramecourt, V.; Jacoupy, M.; Nicolas, A.; Cormier-Dequaire, F.; Hassoun, S.M.; Pujol, C.; Ciura, S.; Erpapazoglou, Z.; Usenko, T.; Maurage, C.A.; Sahbatou, M.; Liebau, S.; Ding, J.; Bilgic, B.; Emre, M.; Erginel-Unaltuna, N.; Guven, G.; Tison, F.; Tranchant, C.; Vidailhet, M.; Corvol, J.C.; Krack, P.; Leutenegger, A.L.; Nalls, M.A.; Hernandez, D.G.; Heutink, P.; Gibbs, J.R.; Hardy, J.; Wood, N.W.; Gasser, T.; Durr, A.; Deleuze, J.F.; Tazir, M.; Destee, A.; Lohmann, E.; Kabashi, E.; Singleton, A.; Corti, O.; Brice, A.; Scheffer, H.; Bloem, B.R.; et al.,

    2016-01-01

    Autosomal-recessive early-onset parkinsonism is clinically and genetically heterogeneous. The genetic causes of approximately 50% of autosomal-recessive early-onset forms of Parkinson disease (PD) remain to be elucidated. Homozygozity mapping and exome sequencing in 62 isolated individuals with

  10. MRI in Parkinson's disease and vascular Parkinsonism

    International Nuclear Information System (INIS)

    Aotsuka, Akiyo; Shinotoh, Hitoshi; Hirayama, Keizo; Ikehira, Hiroo; Fukuda, Hiroshi.

    1991-01-01

    We examined the magnetic resonance (MR) image of midbrain and striatum in 30 patients with Parkinson's disease (PD), 10 patients with vascular Parkinsonism (VP) and 10 age-matched control subjects. Studies were performed on a high field strength (1.5 tesla) MRI unit. T2-weighted spin echo pulse sequence (TR 2500 ms/TE 40 ms) was used. Intensity profiles of a straight line perpendicular to the pars compacta through the center of the red nucleus were made on an image of the midbrain. We measured the width of the valley at half-height between the peaks of intensity representing the red nucleus and the crus cerebri-pars reticulata complex and used this as an index of the width of the pars compacta signal. The mean width of the pars compacta signal was 2.7 mm in the PD group and 4.3 mm in controls. The difference between the means was highly significant (p<0.01). While not significant statistically, there was a trend toward narrowing of the width of pars compacta signal of substantia nigra in the PD group as the Yahr's grade or disease duration progressed. In hemiparkinsonism, MRI revealed significant narrowing of the pars compacta signal on the contra-lateral side to the clinical predominant side. The mean width of the pars compacta signal was 3.9 mm in the VP group, but the decrease was not significant. MRI in VP group showed multiple high intensity area in the basal ganglia and the white matter, and periventricular hyperintensity area (PVHIA). There was no statistically significant difference in the frequency of restoration of the signal intensity in the lateral portion of the substantia nigra among PD, VP and control groups. The low signal intensity in the posterolateral putamen was not found in the 3 groups. The narrowing of the pars compacta signal has been attributed either to atrophy of the pars compacta or to increased deposition of iron in this region. The narrowing of the pars compacta signal reflected pathophysiology of PD. (J.P.N.)

  11. APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.

    Directory of Open Access Journals (Sweden)

    Hélène-Marie Lanoiselée

    2017-03-01

    Full Text Available Amyloid protein precursor (APP, presenilin-1 (PSEN1, and presenilin-2 (PSEN2 mutations cause autosomal dominant forms of early-onset Alzheimer disease (AD-EOAD. Although these genes were identified in the 1990s, variant classification remains a challenge, highlighting the need to colligate mutations from large series.We report here a novel update (2012-2016 of the genetic screening of the large AD-EOAD series ascertained across 28 French hospitals from 1993 onwards, bringing the total number of families with identified mutations to n = 170. Families were included when at least two first-degree relatives suffered from early-onset Alzheimer disease (EOAD with an age of onset (AOO ≤65 y in two generations. Furthermore, we also screened 129 sporadic cases of Alzheimer disease with an AOO below age 51 (44% males, mean AOO = 45 ± 2 y. APP, PSEN1, or PSEN2 mutations were identified in 53 novel AD-EOAD families. Of the 129 sporadic cases screened, 17 carried a PSEN1 mutation and 1 carried an APP duplication (13%. Parental DNA was available for 10 sporadic mutation carriers, allowing us to show that the mutation had occurred de novo in each case. Thirteen mutations (12 in PSEN1 and 1 in PSEN2 identified either in familial or in sporadic cases were previously unreported. Of the 53 mutation carriers with available cerebrospinal fluid (CSF biomarkers, 46 (87% had all three CSF biomarkers-total tau protein (Tau, phospho-tau protein (P-Tau, and amyloid β (Aβ42-in abnormal ranges. No mutation carrier had the three biomarkers in normal ranges. One limitation of this study is the absence of functional assessment of the possibly and probably pathogenic variants, which should help their classification.Our findings suggest that a nonnegligible fraction of PSEN1 mutations occurs de novo, which is of high importance for genetic counseling, as PSEN1 mutational screening is currently performed in familial cases only. Among the 90 distinct mutations found in the

  12. APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.

    Science.gov (United States)

    Lanoiselée, Hélène-Marie; Nicolas, Gaël; Wallon, David; Rovelet-Lecrux, Anne; Lacour, Morgane; Rousseau, Stéphane; Richard, Anne-Claire; Pasquier, Florence; Rollin-Sillaire, Adeline; Martinaud, Olivier; Quillard-Muraine, Muriel; de la Sayette, Vincent; Boutoleau-Bretonniere, Claire; Etcharry-Bouyx, Frédérique; Chauviré, Valérie; Sarazin, Marie; le Ber, Isabelle; Epelbaum, Stéphane; Jonveaux, Thérèse; Rouaud, Olivier; Ceccaldi, Mathieu; Félician, Olivier; Godefroy, Olivier; Formaglio, Maite; Croisile, Bernard; Auriacombe, Sophie; Chamard, Ludivine; Vincent, Jean-Louis; Sauvée, Mathilde; Marelli-Tosi, Cecilia; Gabelle, Audrey; Ozsancak, Canan; Pariente, Jérémie; Paquet, Claire; Hannequin, Didier; Campion, Dominique

    2017-03-01

    Amyloid protein precursor (APP), presenilin-1 (PSEN1), and presenilin-2 (PSEN2) mutations cause autosomal dominant forms of early-onset Alzheimer disease (AD-EOAD). Although these genes were identified in the 1990s, variant classification remains a challenge, highlighting the need to colligate mutations from large series. We report here a novel update (2012-2016) of the genetic screening of the large AD-EOAD series ascertained across 28 French hospitals from 1993 onwards, bringing the total number of families with identified mutations to n = 170. Families were included when at least two first-degree relatives suffered from early-onset Alzheimer disease (EOAD) with an age of onset (AOO) ≤65 y in two generations. Furthermore, we also screened 129 sporadic cases of Alzheimer disease with an AOO below age 51 (44% males, mean AOO = 45 ± 2 y). APP, PSEN1, or PSEN2 mutations were identified in 53 novel AD-EOAD families. Of the 129 sporadic cases screened, 17 carried a PSEN1 mutation and 1 carried an APP duplication (13%). Parental DNA was available for 10 sporadic mutation carriers, allowing us to show that the mutation had occurred de novo in each case. Thirteen mutations (12 in PSEN1 and 1 in PSEN2) identified either in familial or in sporadic cases were previously unreported. Of the 53 mutation carriers with available cerebrospinal fluid (CSF) biomarkers, 46 (87%) had all three CSF biomarkers-total tau protein (Tau), phospho-tau protein (P-Tau), and amyloid β (Aβ)42-in abnormal ranges. No mutation carrier had the three biomarkers in normal ranges. One limitation of this study is the absence of functional assessment of the possibly and probably pathogenic variants, which should help their classification. Our findings suggest that a nonnegligible fraction of PSEN1 mutations occurs de novo, which is of high importance for genetic counseling, as PSEN1 mutational screening is currently performed in familial cases only. Among the 90 distinct mutations found in the whole

  13. Color Discrimination in Patients with Gaucher Disease and Parkinson Disease.

    Science.gov (United States)

    Simon-Tov, Shlomi; Dinur, Tama; Giladi, Nir; Bar-Shira, Anat; Zelis, Mayaan; Zimran, Ari; Elstein, Deborah

    2015-01-01

    Poor color discrimination among patients with Parkinson disease (PD) has long been recognized. It has been shown that carrying one or two mutations in the β-glucocerebrosidase gene (GBA) for the autosomal disease Gaucher disease (GD), as based initially on clinical evidence, is a genetic risk factor for early-onset PD. The purpose of this study was to assess color discrimination in patients with one or two GBA mutations relative to healthy controls to ascertain whether this function is affected when persons with GD or even one GBA mutation develop PD. The Farnsworth-Munsell 100 hue test (FMHT) was evaluated among patients with GD+PD compared to patients with GD only, obligate GBA carriers with and without PD, patients with PD only, and healthy controls. FMHT outcome include computer-generated TES (Total Error Score) and values recommended by Vingrys & King-Smith. Six groups of 10 persons were tested. Significant differences were seen for male GD+PD and for age in PD. The highest mean TES was in the PD only group, the lowest in the GD only group. There was a significant difference because of PD in groups with GD and GBA carriers. GD+PD means were between GD only and PD only mean scores. These findings confirm that PD impacts color discrimination, more in males with GD+PD but nonetheless, GD+PD patients (but not GBA carriers) had better scores than PD only patients.

  14. Sweating dysfunction in Parkinson's disease

    NARCIS (Netherlands)

    Swinn, L; Schrag, A; Viswanathan, R; Lees, A; Quinn, N; Bloem, Bastiaan R.

    2003-01-01

    We sought to determine the prevalence and nature of sweating disturbances in patients with Parkinson's disease (PD), and investigated their correlation with other clinical features and with Quality of Life (QoL) measures. A questionnaire on symptoms and consequences of sweating dysfunction was

  15. Skin disorders in Parkinson's disease

    DEFF Research Database (Denmark)

    Ravn, Astrid-Helene; Thyssen, Jacob P; Egeberg, Alexander

    2017-01-01

    Parkinson's disease (PD) is one of the most common neurodegenerative disorders, characterized by a symptom triad comprising resting tremor, rigidity, and akinesia. In addition, non-motor symptoms of PD are well recognized and often precede the overt motor manifestations. Cutaneous manifestations...

  16. Genetic predisposition to Parkinson's disease

    DEFF Research Database (Denmark)

    Halling, Jónrit; Petersen, Maria Skaalum; Grandjean, Philippe

    2008-01-01

    OBJECTIVE: To investigate whether the genetic variants of CYP2D6 and HFE are more frequent in Parkinson's disease (PD) patients compared with controls in a population where the prevalence of these variants and PD are increased. METHODS: Blood samples were collected from 79 PD patients and 154...

  17. Pancreatic Polypeptide in Parkinson's Disease

    DEFF Research Database (Denmark)

    Knudsen, Karoline; Hartmann, Bolette; Fedorova, Tatyana D

    2017-01-01

    BACKGROUND AND OBJECTIVES: Parkinson's disease (PD) patients experience several non-motor symptoms from the gastrointestinal tract that may partly be caused by parasympathetic deficiency. The pancreas is densely innervated by the vagus nerve, which mediates early meal-induced secretion...

  18. Dream Robber: Living with Parkinson's disease

    Science.gov (United States)

    ... Current Issue Past Issues Dream Robber: Living with Parkinson's disease Past Issues / Summer 2006 Table of Contents ... effects of levodopa called dyskinesias. Additional Information on Parkinson's Web Links MedlinePlus: http://www.nlm.nih.gov/ ...

  19. Lack of MEF2A Delta7aa mutation in Irish families with early onset ischaemic heart disease, a family based study.

    LENUS (Irish Health Repository)

    Horan, Paul G

    2006-01-01

    BACKGROUND: Ischaemic heart disease (IHD) is a complex disease due to the combination of environmental and genetic factors. Mutations in the MEF2A gene have recently been reported in patients with IHD. In particular, a 21 base pair deletion (Delta7aa) in the MEF2A gene was identified in a family with an autosomal dominant pattern of inheritance of IHD. We investigated this region of the MEF2A gene using an Irish family-based study, where affected individuals had early-onset IHD. METHODS: A total of 1494 individuals from 580 families were included (800 discordant sib-pairs and 64 parent-child trios). The Delta7aa region of the MEF2A gene was investigated based on amplicon size. RESULTS: The Delta7aa mutation was not detected in any individual. Variation in the number of CAG (glutamate) and CCG (proline) residues was detected in a nearby region. However, this was not found to be associated with IHD. CONCLUSION: The Delta7aa mutation was not detected in any individual within the study population and is unlikely to play a significant role in the development of IHD in Ireland. Using family-based tests of association the number of tri-nucleotide repeats in a nearby region of the MEF2A gene was not associated with IHD in our study group.

  20. Comparison between Early-Onset and Late-Onset Alzheimer's Disease Patients with Amnestic Presentation: CSF and 18F-FDG PET Study

    Directory of Open Access Journals (Sweden)

    Agostino Chiaravalloti

    2016-04-01

    Full Text Available Background/Aims: To investigate the differences in brain glucose consumption between patients with early onset of Alzheimer's disease (EOAD, aged ≤65 years and patients with late onset of Alzheimer's disease (LOAD, aged >65 years. Methods: Differences in brain glucose consumption between the groups have been evaluated by means of Statistical Parametric Mapping version 8, with the use of age, sex, Mini-Mental State Examination and cerebrospinal fluid values of Aβ1-42, phosphorylated Tau and total Tau as covariates in the comparison between EOAD and LOAD. Results: As compared to LOAD, EOAD patients showed a significant decrease in glucose consumption in a wide portion of the left parietal lobe (BA7, BA31 and BA40. No significant differences were obtained when subtracting the EOAD from the LOAD group. Conclusions: The results of our study show that patients with EOAD show a different metabolic pattern as compared to those with LOAD that mainly involves the left parietal lobe.

  1. Comparison between Early-Onset and Late-Onset Alzheimer's Disease Patients with Amnestic Presentation: CSF and 18F-FDG PET Study

    Science.gov (United States)

    Chiaravalloti, Agostino; Koch, Giacomo; Toniolo, Sofia; Belli, Lorena; Lorenzo, Francesco Di; Gaudenzi, Sara; Schillaci, Orazio; Bozzali, Marco; Sancesario, Giuseppe; Martorana, Alessandro

    2016-01-01

    Background/Aims To investigate the differences in brain glucose consumption between patients with early onset of Alzheimer's disease (EOAD, aged ≤65 years) and patients with late onset of Alzheimer's disease (LOAD, aged >65 years). Methods Differences in brain glucose consumption between the groups have been evaluated by means of Statistical Parametric Mapping version 8, with the use of age, sex, Mini-Mental State Examination and cerebrospinal fluid values of AΒ1-42, phosphorylated Tau and total Tau as covariates in the comparison between EOAD and LOAD. Results As compared to LOAD, EOAD patients showed a significant decrease in glucose consumption in a wide portion of the left parietal lobe (BA7, BA31 and BA40). No significant differences were obtained when subtracting the EOAD from the LOAD group. Conclusions The results of our study show that patients with EOAD show a different metabolic pattern as compared to those with LOAD that mainly involves the left parietal lobe. PMID:27195000

  2. Early onset sebaceous carcinoma

    Directory of Open Access Journals (Sweden)

    Kaltreider Sara A

    2011-09-01

    Full Text Available Abstract Background Ocular sebaceous carcinoma can masquerade as benign lesions resulting in delay of diagnosis. Early recognition is even more difficult in young patients where the disease rarely occurs. Here, we provide a clinicopathological correlation of ocular sebaceous carcinoma in a young individual lacking history of hereditary cancer or immunosuppression. Findings A detailed histopathological study including p53 DNA sequencing was performed on an aggressive sebaceous carcinoma presenting in a healthy 32 year-old Caucasian woman. She had no history of retinoblastoma, evidence for a hereditary cancer syndrome, or radiation therapy. However, she potentially was at risk for excessive UV light exposure. A detailed review of the literature is also provided. A moderately well differentiated sebaceous carcinoma was established histopathologically arising from the meibomian gland of the upper eyelid. In most areas, the cytoplasm contained small but distinct Oil-red-O positive vacuoles. Direct sequencing of p53 identified a G:C→A:T mutation at a dipyrimidine site. The mutation results in substitution of arginine for the highly conserved glycine at residue 199 located at the p53 dimer-dimer interface. Energy minimization structural modeling predicts that G199R will neutralize negative charges contributed by nearby inter- and intramonomeric glutamate residues. Discussion This study points to the importance of recognizing that sebaceous carcinoma can occur in young patients with no evidence for hereditary cancer risk or radiation therapy. The G199R substitution is anticipated to alter the stability of the p53 tetrameric complex. The role of UV light in the etiology of sebaceous carcinoma deserves further study. Our findings, taken together with those of others, suggest that different environmental factors could lead to the development of sebaceous carcinoma in different patients.

  3. Driving safety in Parkinson's disease.

    Science.gov (United States)

    Zesiewicz, T A; Cimino, C R; Malek, A R; Gardner, N; Leaverton, P L; Dunne, P B; Hauser, R A

    2002-12-10

    In this study, 39 patients with PD and 25 control subjects without neurologic disease completed testing in a driving simulator. PD patients had more total collisions on the driving simulator than control subjects (t = -3.7, p < 0.01). In PD patients, collisions were associated with Hoehn and Yahr stage (chi(2) = 12.4, p = 0.006) and correlated with Unified Parkinson's Disease Rating Scale score (r = 0.5, p < 0.01).

  4. Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seeds.

    Science.gov (United States)

    Le Guennec, Kilan; Veugelen, Sarah; Quenez, Olivier; Szaruga, Maria; Rousseau, Stéphane; Nicolas, Gaël; Wallon, David; Fluchere, Frédérique; Frébourg, Thierry; De Strooper, Bart; Campion, Dominique; Chávez-Gutiérrez, Lucía; Rovelet-Lecrux, Anne

    2017-08-01

    Presenilin 1 (PSEN1) mutations are the main cause of autosomal dominant Early-onset Alzheimer Disease (EOAD). Among them, deletions of exon 9 have been reported to be associated with a phenotype of spastic paraparesis. Using exome data from a large sample of 522 EOAD cases and 584 controls to search for genomic copy-number variations (CNVs), we report here a novel partial, in-frame deletion of PSEN1, removing both exons 9 and 10. The patient presented with memory impairment associated with spastic paraparesis, both starting from the age of 56years. He presented a positive family history of EOAD. We performed functional analysis to elucidate the impact of this novel deletion on PSEN1 activity as part of the γ-secretase complex. The deletion does not affect the assembly of a mature protease complex but has an extreme impact on its global endopeptidase activity. The mutant carboxypeptidase-like activity is also strongly impaired and the deleterious mutant effect leads to an incomplete digestion of long Aβ peptides and enhances the production of Aβ43, which has been shown to be potently amyloidogenic and neurotoxic in vivo. Copyright © 2017 Elsevier Inc. All rights reserved.

  5. Identification of a novel PSEN1 mutation (Leu232Pro) in a Korean patient with early-onset Alzheimer's disease and a family history of dementia.

    Science.gov (United States)

    Park, Jiyun; An, Seong Soo A; Giau, Vo Van; Shim, Kyuhwan; Youn, Young Chul; Bagyinszky, Eva; Kim, SangYun

    2017-08-01

    In the present study, a novel mutation in exon 7 of presenilin 1 (Leu232Pro) was discovered in a Korean patient with early-onset Alzheimer's disease, who represented memory decline at 37 years of age, followed by impairment in spatial activity and concentrations and personality changes. Imaging analyses with magnetic resonance scan showed diffuse atrophy in the frontoparietal regions. Targeted next generation sequencing and Sanger sequencing identified a heterozygous T to C transition at position 695 (c.695T>C) of in presenilin 1 gene (PSEN1), resulting in a novel missense mutation at codon 232 from leucine to proline (L232P). Several family members of the patient developed dementia, suggesting an autosomal dominant inheritance; however, we were unable to perform a segregation analysis to confirm this. Since the proline may play a role as a helix breaker, this mutation could significantly disturb the transmembrane helix domain-V of PSEN1 and perturb its protein functions. This hypothesis was supported by the results from the in silico analyses, predicted a major kink on this helix. Several leucine>proline substitutions in other PSEN1 transmembrane helices revealed aggressive AD phenotypes. Future functional studies would be needed to evaluate the pathogenicity of this mutation in AD. Copyright © 2017 Elsevier Inc. All rights reserved.

  6. [Physical therapy for parkinson's disease].

    Science.gov (United States)

    Hubert, M

    2011-09-01

    Parkinson's disease is a complex neurologic and progressive incapacitating disease. Parkinson's disease severely threatens the quality of live and the number of patients worldwide is expected to rise considerably in the coming decade due to aging of the population. Even with optimal medical management using drugs or neurosurgery, patients are faced with progressively increasing impairments (e.g. in speech, mental and movement related functions), and restrictions in participation (e.g. domestic life and social activities). Physical therapy is often prescribed next to medical treatment but there is a lack of uniform treatment. A systematic literature search for guidelines, systematic reviews, trials, and expert opinions lead to a better understanding. The key question: Is physiotherapy able to optimally treat the Parkinson's disease symptoms? In which way, how and on which scientific bases can the physiotherapist participate to improve autonomy and to help them living independently and avoid, as long as possible, institutionalization? This article has integrated clinical research findings to provide clinicians with an overview to physical therapist management of disorders in people with Parkinson's disease. An Evidence-Based Physical Therapy Guideline providing practice recommendations was developed by the Royal Dutch Society for Physical Therapy (KNGF). Evidence from research was supplemented with clinical expertise and patients values. Randomized clinical trials reflect specific core areas of physical therapy, that is, transfer, posture, balance, reaching and grasping, gait and physical condition. Another aspect is that of educating patients (as well as their partners and family) about the disease process and the benefits of exercise therapy. Alternative therapies can be helpful like Tai Chi, virtual games, dancing, yoga, ball games for example.

  7. Clinical course and prognosis in patients with Gaucher disease and parkinsonism

    Science.gov (United States)

    Lopez, Grisel; Kim, Jenny; Wiggs, Edythe; Cintron, Dahima; Groden, Catherine; Tayebi, Nahid; Mistry, Pramod K.; Pastores, Gregory M.; Zimran, Ari; Goker-Alpan, Ozlem

    2016-01-01

    Objective: The goal of this study was to characterize the parkinsonian phenotype in patients with Gaucher disease (GD) who developed parkinsonism in order to evaluate clinical course and prognosis. Methods: This is a retrospective observational study conducted at the Clinical Center of the NIH, Bethesda, MD, over a period of 10 years. The study included 19 patients with GD and parkinsonism. The severity of Gaucher and parkinsonian symptoms was determined from clinical data including physical, neurologic, pathologic, and neurocognitive evaluations, family histories, imaging studies, olfactory testing, and validated questionnaires. Results: We found an earlier age at onset of parkinsonism and evidence of mild cognitive dysfunction in our cohort. Although the clinical course in some patients was similar to that of idiopathic Parkinson disease with a favorable levodopa response, others exhibited features characteristic of dementia with Lewy bodies. When we examined the patients as a group, we did not observe a uniformly aggressive form of parkinsonism after the initial onset of symptoms, contrary to other published reports. Conclusions: Appreciable clinical variation was seen in this cohort with GD and parkinsonism. Although some patients had early onset and prominent cognitive changes, others had a later, slower course, indicating that GBA1 mutations may not be a reliable prognostic indicator in Parkinson disease in clinical settings. PMID:27123476

  8. Living Well with Parkinson's Disease Is an Art

    Science.gov (United States)

    ... Disease Living Well with Parkinson's Disease is an Art Past Issues / Winter 2014 Table of Contents What ... More "Living Well with Parkinson's Disease is an Art" Articles Living Well with Parkinson's Disease is an ...

  9. Swallowing disorders in Parkinson's disease.

    Science.gov (United States)

    Mamolar Andrés, Sandra; Santamarina Rabanal, María Liliana; Granda Membiela, Carla María; Fernández Gutiérrez, María José; Sirgo Rodríguez, Paloma; Álvarez Marcos, César

    Parkinson's disease is a type of chronic neurodegenerative pathology with a typical movement pattern, as well as different, less studied symptoms such as dysphagia. Disease-related disorders in efficacy or safety in the process of swallowing usually lead to malnutrition, dehydration or pneumonias. The aim of this study was identifying and analyzing swallowing disorders in Parkinson's disease. The initial sample consisted of 52 subjects with Parkinson's disease to whom the specific test for dysphagia SDQ was applied. Nineteen participants (36.5%) with some degree of dysphagia in the SDQ test were selected to be evaluated by volume-viscosity clinical exploration method and fiberoptic endoscopic evaluation of swallowing. Disorders in swallowing efficiency and safety were detected in 94.7% of the selected sample. With regards to efficiency, disorders were found in food transport (89.5%), insufficient labial closing (68.4%) and oral residues (47.4%), relating to duration of ingestion. Alterations in security were also observed: pharynx residues (52.7%), coughing (47.4%), penetration (31.64%), aspiration and decrease of SaO 2 (5.3%), relating to the diagnosis of respiratory pathology in the previous year. The SDQ test detected swallowing disorders in 36.5% of the subjects with Parkinson's disease. Disorders in swallowing efficiency and safety were demonstrated in 94.7% of this subset. Disorders of efficiency were more frequent than those of safety, establishing a relationship with greater time in ingestion and the appearance of respiratory pathology and pneumonias. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. All rights reserved.

  10. Cognitive impairment in Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Jing YUAN

    2017-07-01

    Full Text Available Parkinson's disease cognitive impairment (PD-CI is one of the major non-motor symtoms (NMS of PD, including Parkinson's disease with mild cognitive impairment (PD - MCI and Parkinson's disease dementia (PDD. Executive dysfunction is relatively prominent, but other cognitive domains as visuospatial ability, memory and language can also be affected. Main risk factors for PD-CI include male gender, advanced age, low education, severe motor symptoms, low baseline cognitive function and excessive daytime sleepiness (EDS. Lewy bodies are main pathological changes, and Alzheimer's disease (AD related pathological changes can also be seen. The application value of decreased α?synuclein (α-Syn and β-amyloid 1-42 (Aβ1-42 levels in cerebrospinal fluid (CSF as biomarkers remains controversial. There are few related research and no defined pathogenic genes currently. Both dopaminergic pathway and acetylcholinergic pathway are involved in the occurrence of PD - CI as demonstrated in PET studies. Cortical and subcortical atrophy are associated with PD - CI as observed in MRI studies. Olfactory dysfunction may be one of the predictors of cognitive impairment. PDD and dementia with Lewy bodies (DLB share common biological characteristics, therefore the differential diagnosis sometimes is difficult. Cholinesterase inhibitors (ChEIs and memantine help to improve clinical symptoms, but treatment decision should be made with individualization. Cognitive behavioral treatment (CBT has potential clinical value and should be investigated by more studies. DOI: 10.3969/j.issn.1672-6731.2017.06.004

  11. [Behavioral impairments in Parkinson's disease].

    Science.gov (United States)

    Kashihara, Kenichi

    2004-09-01

    Behavioral impairments in parkinsonian patients include agitation, hypersexuality, stereotypic movement, pathological gambling, abuse of antiparkinsonian drugs, REM sleep behavioral disorder, and restless legs syndrome. Dementia, psychoses, and emotional disorders, such as depression and anxiety/panic disorder, also impair behavior. Symptoms may be produced by dysfunction of the central nervous system, medication, and/or the psychosocial problems associated with Parkinson's disease. Treatment therefore should be based on the cause of the symptoms seen. In some cases, the reduction or change of antiparkinsonian drugs, or both, may be effective. Treatment of the motor symptoms of Parkinson's disease, including motor fluctuations, may reduce the risk of panic attacks being evoked in the 'off' period. Use of antidepressants, sedatives, and neuroleptics may often be effective. Physicians should identify the causes of the symptoms of behavioral impairment and select appropriate treatments.

  12. Addictive behaviors and Parkinson's disease.

    Science.gov (United States)

    Witjas, T; Eusebio, A; Fluchère, F; Azulay, J-P

    2012-01-01

    In Parkinson's disease, the degeneration of the dopaminergic system and the longstanding exposure to dopamine replacement therapy (DRT) may cause, in a group of vulnerable patients, dysregulation of the brain reward system. These patients develop DRT-related compulsions, which include addiction to levodopa or dopamine dysregulation syndrome (DDS), punding, and impulse control disorders (ICDs). ICDs or behavioral addiction reported in Parkinson's disease include pathological gambling, hypersexuality, compulsive buying and binge eating. Although the underlying pathophysiology is still poorly understood, these behaviors are linked by their reward-based and repetitive nature. Such behaviors may result in devastating psychosocial impairment for the patients and are often hidden. The recognition of these behaviors is important and allows a better clinical management. Although the limited data do not permit particular therapeutic strategies, some approaches are worth considering: DRT reduction, trials of non-dopaminergic medications and subthalamic chronic stimulation. Copyright © 2012. Published by Elsevier Masson SAS.

  13. Electroconvulsive therapy in Parkinson's disease.

    Science.gov (United States)

    Calderón-Fajardo, Humberto; Cervantes-Arriaga, Amin; Llorens-Arenas, Rodrigo; Ramírez-Bermudez, Jesús; Ruiz-Chow, Ángel; Rodríguez-Violante, Mayela

    2015-10-01

    Purpose To analyze the effectiveness of electroconvulsive therapy for the management of depression and/or psychosis refractory to drug therapy in patients with Parkinson disease.Methods A retrospective study was carried out including patients treated with electroconvulsive therapy during the period between 2002 and 2013. A review of the literature was performed.Results A total of 27 patients were included. In regards to the neuropsychiatric diagnosis, 14 patients had major depression, 12 patients had both psychosis and depression, and only one patient had isolated psychosis. The mean number of electroconvulsive therapy sessions was 12 ± 2.8. After electroconvulsive therapy, all patients showed a statistically significant improvement in the Brief Psychiatric Rating scale (reduction of 52% points) and Hamilton Depression Rating Scale (reduction of 50% points) independent of the presence of psychosis, depression or both.Conclusion Electroconvulsive therapy is effective for the treatment of refractory neuropsychiatric symptoms in Parkinson's disease.

  14. Genetics Home Reference: early-onset myopathy with fatal cardiomyopathy

    Science.gov (United States)

    ... in childhood, people with EOMFC may also develop joint deformities called contractures that restrict the movement of ... Home Edition for Patients and Caregivers: Dilated Cardiomyopathy Neuromuscular Disease Center, Washington University Orphanet: Early-onset myopathy ...

  15. How Is Parkinson's Disease Treated?

    Science.gov (United States)

    ... the entire Parkinson's community. Learn more Get Involved Moving Day Walk Parkinson's Champions Create Your Own Fundraiser Advocate With Us Local Resources Find an Event My PD Story Volunteer ... Support a Moving Day Walker Support a Parkinson's Champion Bequests & Planned ...

  16. Parkinson's disease as a result of aging

    OpenAIRE

    Rodriguez, Manuel; Rodriguez-Sabate, Clara; Morales, Ingrid; Sanchez, Alberto; Sabate, Magdalena

    2015-01-01

    It is generally considered that Parkinson's disease is induced by specific agents that degenerate a clearly defined population of dopaminergic neurons. Data commented in this review suggest that this assumption is not as clear as is often thought and that aging may be critical for Parkinson's disease. Neurons degenerating in Parkinson's disease also degenerate in normal aging, and the different agents involved in the etiology of this illness are also involved in aging. Senescence is a wider p...

  17. Genetic analysis of SCA2, 3 and 17 in idiopathic Parkinson's disease.

    Science.gov (United States)

    Lim, S W; Zhao, Y; Chua, E; Law, H Y; Yuen, Y; Pavanni, R; Wong, M C; Ng, I S; Yoon, C S; Puong, K Y; Lim, S H; Tan, E K

    2006-07-31

    Recent reports of SCA2 and SCA3 patients who presented with levodopa responsive parkinsonism have generated considerable interest as they have implications for genetic testing. It is unclear whether ethnic race alone or founder effects within certain geographical region explain such an association. In this study, we conducted genetic analysis of SCA2, 3, 17 in an ethnic Chinese cohort with early onset and familial Parkinson's disease (PD) and healthy controls. A total of 191 subjects comprising of 91 PD and 100 healthy controls were examined. We identified one positive case of SCA2 in an early-onset sporadic PD patient who had CAG 36 repeats, yielding a prevalence of 2.2% in early-onset sporadic PD patients and less than 1.0% in our study PD population. The size of the repeats was lower than the expanded repeats (38-57) in SCA2 patients with ataxia in our population. All the children of the patient were physically normal even though some of them carried the repeat expansion of similar size. No cases and controls were positive for SCA3 and SCA17. We do not think routine screening of SCA2, SCA3 and SCA17 for all idiopathic PD patients is cost-effective in our ethnic Chinese population. However, SCA2 should be a differential diagnosis in young onset sporadic PD when genetic mutations of other known PD genes have been excluded.

  18. [Music therapy on Parkinson disease].

    Science.gov (United States)

    Côrte, Beltrina; Lodovici Neto, Pedro

    2009-01-01

    This study is a result of a qualitative research, in the Gerontology and Music therapy scenario. It was analyzed the importance of alternative practices like playing an instrument (piano, violin, etc.), singing, or practicing a guided musical exercise as a therapy activity for elder people with Parkinson Disease. The analysis, systematization and interpretation of the data pointed: music therapy is an excellent way to improve the life of the patient that becomes more sociable, decreasing physical and psychological symptoms ('symptomatology') and the subject change for a singular and own position in the relation with your disease and the people around.

  19. [Parkinson's disease(s): recent insight into genetic factors

    NARCIS (Netherlands)

    Warrenburg, B.P.C. van de; Scheffer, H.; Heutink, P.; Bloem, B.R.

    2007-01-01

    In recent years, 5 genes have been identified that are unambiguously associated with genetic forms of Parkinson's disease. These genes probably explain less than 10% of all cases of Parkinson's disease. Clinically, these genetic forms can closely resemble idiopathic Parkinson's disease. Mutation

  20. Defects in Nicotinamide-adenine Dinucleotide Phosphate Oxidase Genes NOX1 and DUOX2 in Very Early Onset Inflammatory Bowel DiseaseSummary

    Directory of Open Access Journals (Sweden)

    Patti Hayes

    2015-09-01

    Full Text Available Background & Aims: Defects in intestinal innate defense systems predispose patients to inflammatory bowel disease (IBD. Reactive oxygen species (ROS generated by nicotinamide-adenine dinucleotide phosphate (NADPH oxidases in the mucosal barrier maintain gut homeostasis and defend against pathogenic attack. We hypothesized that molecular genetic defects in intestinal NADPH oxidases might be present in children with IBD. Methods: After targeted exome sequencing of epithelial NADPH oxidases NOX1 and DUOX2 on 59 children with very early onset inflammatory bowel disease (VEOIBD, the identified mutations were validated using Sanger Sequencing. A structural analysis of NOX1 and DUOX2 variants was performed by homology in silico modeling. The functional characterization included ROS generation in model cell lines and in in vivo transduced murine crypts, protein expression, intracellular localization, and cell-based infection studies with the enteric pathogens Campylobacter jejuni and enteropathogenic Escherichia coli. Results: We identified missense mutations in NOX1 (c.988G>A, p.Pro330Ser; c.967G>A, p.Asp360Asn and DUOX2 (c.4474G>A, p.Arg1211Cys; c.3631C>T, p.Arg1492Cys in 5 of 209 VEOIBD patients. The NOX1 p.Asp360Asn variant was replicated in a male Ashkenazi Jewish ulcerative colitis cohort. Patients with both NOX1 and DUOX2 variants showed abnormal Paneth cell metaplasia. All NOX1 and DUOX2 variants showed reduced ROS production compared with wild-type enzymes. Despite appropriate cellular localization and comparable pathogen-stimulated translocation of altered oxidases, cells harboring NOX1 or DUOX2 variants had defective host resistance to infection with C. jejuni. Conclusions: This study identifies the first inactivating missense variants in NOX1 and DUOX2 associated with VEOIBD. Defective ROS production from intestinal epithelial cells constitutes a risk factor for developing VEOIBD. Keywords: Inflammatory Bowel Disease, NADPH Oxidase

  1. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... for PD Patients? Are There Any Ways to Control the Rate of Progression of the Disease? What ... 2 What Are Some Strategies to Improve the Quality of Community Care for PD Patients? Dra. Claudia ...

  2. Parkinson's Disease Videos

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    Full Text Available ... Parkinson’s Disease Psychosis: A Caregiver’s Story CareMAP: Thinking Changes: Part ... Affect the Patient's Family and Social Network? What Is the Impact of PD Medications ...

  3. Parkinson's Disease Videos

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    Full Text Available ... who seek skilled care are at a lower risk of complications and have better quality of life. ... Disease Affect the Urinary System? What Are the Risks and Benefits of DBS Surgery? NPF Caregiver Summit ...

  4. Cell transplantation for Parkinson's disease

    Institute of Scientific and Technical Information of China (English)

    Jia Liu; Hongyun Huang

    2006-01-01

    OBJECTIVE: The motor symptoms of Parkinson's disease (PD) can be improved by cell transplantation,which has caught general attention from the field of the therapy for PD recently. In this paper, we summarize the cell-based therapy for PD.DATA SOURCES: A search for English literature related to the cellular transplantation of PD from January 1979to July 2006 was conducted in Medline with the key words of "Parkinson's disease, cell transplantation,embryonic stem cells, neural stem cells".STUDY SELECTTON: Data were checked in the first trial, and literatures about PD and cell transplantation were selected. Inclusive criteria: ① PD; ② Cell transplantation. Exclusive criteria: repetitive researches.DATA EXTRACTTON: A total of 100 papers related to cellular transplant and PD were collected and 41literatures were in accordance with the inclusive criteria.DATA SYNTHESIS: PD is a neural degeneration disease that threatens the health of the aged people, and most traditional therapeusis cannot delay its pathological proceeding. Cell transplantation is becoming popular as a new therapeutic tool, and the cells used to transplant mainly included dopamine-secreting cells, fetal ventral mesencephalic cells, embryonic stem cells and neural stem cells up to now. Animal experiment and clinical test demonstrate that cell transplantation can relieve the motor symptoms of Parkinson's disease obviously, but there are some problems need to be solved.CONCLUSTON: Cell transplantation has visible therapeutic efficacy on PD. Following the improvement of technique, and we have enough cause to credit that cell therapy may cure PD in the future.

  5. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... What Does a Caregiver Need to Know About Cognitive Impairment? How Do I Manage Non-Motor Problems ... en vivo con Lobo! What Medications Help with Cognitive Impairment? Parkinson’s Disease Psychosis: A Caregiver’s Story CareMAP: ...

  6. Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?

    DEFF Research Database (Denmark)

    Hjermind, Lena Elisabeth; Johannsen, Lis Gitte; Blau, Nenad

    2006-01-01

    We describe a patient with a combination of dystonic and parkinsonian signs. Paraclinical studies revealed a mutation in the GTP cyclohydrolase I gene (GCH1) and a decrease in [123I]-N-omega-fluoropropyl-2beta-carbomethoxy-3beta-(4-iodophenyl) nortropane (123I-FP-CIT) binding ratios indicative...

  7. "PINK1"-Linked Parkinsonism Is Associated with Lewy Body Pathology

    Science.gov (United States)

    Samaranch, Lluis; Lorenzo-Betancor, Oswaldo; Arbelo, Jose M.; Ferrer, Isidre; Lorenzo, Elena; Irigoyen, Jaione; Pastor, Maria A.; Marrero, Carmen; Isla, Concepcion; Herrera-Henriquez, Joanna; Pastor, Pau

    2010-01-01

    Phosphatase and tensin homolog-induced putative kinase 1 gene mutations have been associated with autosomal recessive early-onset Parkinson's disease. To date, no neuropathological reports have been published from patients with Parkinson's disease with both phosphatase and tensin homolog-induced putative kinase 1 gene copies mutated. We analysed…

  8. Circadian dysregulation in Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Aleksandar Videnovic

    2017-01-01

    Full Text Available Parkinson's disease (PD is the second most common neurodegenerative disorder that affects over one million individuals in the US alone. PD is characterized by a plethora of motor and non-motor manifestations, resulting from a progressive degeneration of dopaminergic neurons and disbalance of several other neurotransmitters. A growing body of evidence points to significant alterations of the circadian system in PD. This is not surprising given the pivotal role that dopamine plays in circadian regulation as well as the role of circadian influences in dopamine metabolism. In this review we present basic and clinical investigations that examined the function of the circadian system in PD.

  9. Genomes of early onset prostate cancer

    DEFF Research Database (Denmark)

    Weischenfeldt, Joachim; Korbel, Jan O.

    2017-01-01

    Purpose of review Prostate cancer is a disease of the elderly but a clinically relevant subset occurs early in life. In the current review, we discuss recent findings and the current understanding of the molecular underpinnings associated with early-onset prostate cancer (PCa) and the evidence...... supporting age-specific differences in the cancer genomes. Recent findings Recent surveys of PCa patient cohorts have provided novel age-dependent links between germline and somatic aberrations which points to differences in the molecular cause and treatment options. Summary Identifying the earliest...... receptor pathway....

  10. Nonmotor symptoms in genetic Parkinson disease

    DEFF Research Database (Denmark)

    Kasten, Meike; Kertelge, Lena; Brüggemann, Norbert

    2010-01-01

    To review current knowledge on nonmotor symptoms (NMS), particularly psychiatric features, in genetic Parkinson disease (PD) and to provide original data for genetic and idiopathic PD.......To review current knowledge on nonmotor symptoms (NMS), particularly psychiatric features, in genetic Parkinson disease (PD) and to provide original data for genetic and idiopathic PD....

  11. Pathophysiology of diurnal drooling in Parkinson's disease

    NARCIS (Netherlands)

    Kalf, J.G.; Munneke, M.; Engel-Hoek, L. van den; Swart, B.J.M. de; Borm, G.F.; Bloem, B.R.; Zwarts, M.J.

    2011-01-01

    Drooling is an incapacitating feature of Parkinson's disease. Better pathophysiological insights are needed to improve treatment. In this study, we tested the hypothesis that the cause of drooling is multifactorial. We examined 15 patients with Parkinson's disease with distinct diurnal saliva loss

  12. NIH Research: Advances in Parkinson's Disease Research

    Science.gov (United States)

    ... of this page please turn JavaScript on. NIH Research: Advances in Parkinson's Disease Research Past Issues / Winter 2014 Table of Contents Story ... Photo courtesy of NIH Advances in Parkinson's Disease Research Story Landis, Ph.D., has been Director of ...

  13. Parkinson's disease: piecing together a genetic jigsaw.

    NARCIS (Netherlands)

    M.C.J. Dekker (Marieke); V. Bonifati (Vincenzo); C.M. van Duijn (Cornelia)

    2003-01-01

    textabstractThe role of genetics in the pathogenesis of Parkinson's disease has been subject to debate for decades. In recent years, the discovery of five genes and several more loci has provided important insight into its molecular aetiology. Some Parkinson's disease genes possibly cause

  14. CT scan of Parkinson's disease

    Energy Technology Data Exchange (ETDEWEB)

    Konishi, T; Noguchi, S; Nishitani, H [National Sanatorium of Utano, Kyoto (Japan); Kitano, H; Ikegami, Y

    1981-04-01

    In forty-eight patients with Parkinson's disease, we examined the ventricular size and the degree of cortical atrophy which were measured by the photos of CT scan and compared them with their clinical symptoms and side effects of anti-parkinsonian drugs. The ventricular size was expressed as the ventricular ratio which is the percentage of superimposed lateral ventricular area to the white and gray matter area at the slice number 2B of CT scan photos. The degree of the cortical atrophy was expressed as the sulcal numbers which were clearly visualized at the slice number 3B or 4A of CT scan photos. We used the CT scan photos of age-matched other patients which did not show definit central nervous system abnormalities. Our findings were as follows: (1) The ventricular enlargement was observed in the parkinsonian patients who showed dementia and/or Yahr's classification grades IV or V. (2) There was no correlation between the duration of this disease and the L--dopa treatments with the ventricular size and sulcal numbers. (3) The side effects of drugs such as visual hallucination were tended to be observed in the patients who showed the ventricular enlargement. (4) There was no definite correlation between the degree of cortical atrophy with clinical symptoms and side effects of various drugs. These findings suggested that the ventricular enlargement in Parkinson's disease was an important sign of dementia and the tendency of appearance of side effects of various drugs.

  15. CT scan of Parkinson's disease

    International Nuclear Information System (INIS)

    Konishi, Tetsuro; Noguchi, Sadako; Nishitani, Hiroshi; Kitano, Haruo; Ikegami, Yoshinori.

    1981-01-01

    In forty-eight patients with Parkinson's disease, we examined the ventricular size and the degree of cortical atrophy which were measured by the photos of CT scan and compared them with their clinical symptoms and side effects of anti-parkinsonian drugs. The ventricular size was expressed as the ventricular ratio which is the percentage of superimposed lateral ventricular area to the white and gray matter area at the slice number 2B of CT scan photos. The degree of the cortical atrophy was expressed as the sulcal numbers which were clearly visualized at the slice number 3B or 4A of CT scan photos. We used the CT scan photos of age-matched other patients which did not show definit central nervous system abnormalities. Our findings were as follows: (1) The ventricular enlargement was observed in the parkinsonian patients who showed dementia and/or Yahr's classification grades IV or V. (2) There was no correlation between the duration of this disease and the L--dopa treatments with the ventricular size and sulcal numbers. (3) The side effects of drugs such as visual hallucination were tended to be observed in the patients who showed the ventricular enlargement. (4) There was no definite correlation between the degree of cortical atrophy with clinical symptoms and side effects of various drugs. These findings suggested that the ventricular enlargement in Parkinson's disease was an important sign of dementia and the tendency of appearance of side effects of various drugs. (author)

  16. I-123 IMP SPECT in Parkinson's disease

    International Nuclear Information System (INIS)

    Kawabata, Keita; Tachibana, Kyudai; Sugita, Minoru

    1990-01-01

    To examine semiquantitatively regional cerebral blood flow, SPECT with N-isopropyl-p-[I-123]iodoamphetamine (I-123 IMP) was undertaken in 17 patients with Parkinson's disease. Seven patients with Alzheimer's disease and 9 senile control subjects were also imaged for comparison. Both the Parkinson's disease group and the Alzheimer's disease group had a decreased uptake of I-123 IMP in the frontal lobe, in comparison with the control group. A remarkably decreased uptake was seen in the lateral and parietal lobes in the group of Parkinson's disease associated with dementia, as well as in the Alzheimer's disease group. A significantly decreased uptake was observed in the frontal lobe, lateral lobe, thalamus, and basal ganglia in the Parkinson's disease group, irrespective of the presence or absence of dementia. For Parkinson's disease associated with dementia, there was much more significant decrease in I-123 IMP uptake. The pattern of regional cerebral blood flow in the Alzheimer's disease group was analogous to that in the Parkinson's disease group associated with dementia. This supports the hypothesis that Alzheimer's disease may be somewhat involved in the occurrence of dementia for Parkinson's disease. (N.K.)

  17. Imaging biomarkers in Parkinson?s disease and Parkinsonian syndromes: current and emerging concepts

    OpenAIRE

    Saeed, Usman; Compagnone, Jordana; Aviv, Richard I.; Strafella, Antonio P.; Black, Sandra E.; Lang, Anthony E.; Masellis, Mario

    2017-01-01

    Two centuries ago in 1817, James Parkinson provided the first medical description of Parkinson?s disease, later refined by Jean-Martin Charcot in the mid-to-late 19th century to include the atypical parkinsonian variants (also termed, Parkinson-plus syndromes). Today, Parkinson?s disease represents the second most common neurodegenerative disorder with an estimated global prevalence of over 10 million. Conversely, atypical parkinsonian syndromes encompass a group of relatively heterogeneous d...

  18. Parkinson's disease associated with impaired oxidative phosphorylation

    International Nuclear Information System (INIS)

    Finsterer, J.; Jarius, C.; Baumgartner, M.

    2001-01-01

    Parkinson's disease may be due to primary or secondary oxidative phosphorylation (OXPHOS) defects. In a 76-year-old man with Parkinson's disease since 1992, slightly but recurrently elevated creatine phosphokinase, recurrently elevated blood glucose, thickening of the left ventricular myocardium, bifascicular block and hypacusis were found. Cerebral MRI showed atrophy, periventricular demyelination, multiple, disseminated, supra- and infratentorial lacunas, and haemosiderin deposits in both posterior horns. Muscle biopsy showed typical features of an OXPHOS defect. Whether the association of Parkinson's disease and impaired OXPHOS was causative or coincidental remains unknown. Possibly, the mitochondrial defect acted as an additional risk factor for Parkinson's disease or the OXPHOS defect worsened the preexisting neurological impairments by a cumulative or synergistic mechanism. In conclusion, this case shows that Parkinson's disease may be associated with a mitochondrially or nuclearly encoded OXPHOS defect, manifesting as hypacusis, myopathy, axonal polyneuropathy, cardiomyopathy and recurrent subclinical ischaemic strokes and haemorrhages. (orig.)

  19. Pragmatic communication is impaired in Parkinson disease.

    Science.gov (United States)

    Hall, Deborah; Ouyang, Bichun; Lonnquist, Eryn; Newcombe, Jill

    2011-05-01

    The purpose of this study was to determine whether severity of disease, cognitive function, age, gender, or amount of social interaction were associated with pragmatic dysfunction in Parkinson disease. No studies have previously been done to investigate variables that may be associated with pragmatic dysfunction in Parkinson disease. A case-control study was conducted with 17 Parkinson disease patients and 17 convenience controls. Each Parkinson disease patient and a control were interviewed, and their pragmatic skills were evaluated using a scale of pragmatic communication skills. Correlation analysis was used to determine what factors were associated with pragmatic dysfunction in the Parkinson disease patients. Cases scored lower on the pragmatic scale with a mean of 29.7 compared with 38.9 in the controls (p communication skills had moderate to strong correlations with the MMSE (r = .81, p = .002), Unified Parkinson's Disease Rating Scale score (r = -.71, p = .002), and duration of disease (r = -.53, p = .03). These results show that Parkinson disease patients have impaired pragmatic function compared with controls on both verbal and nonverbal sections, and this impairment correlates with mental state, duration, and severity of disease.

  20. Diet and Nutrition (Parkinson's Disease)

    Science.gov (United States)

    ... Living With Parkinson's › Managing Parkinson's › Diet & Nutrition Diet & Nutrition 1. Maintain Health 2. Ease PD Symptoms 3. ... your team Seek reliable information about diet and nutrition from your medical team and local resources. Please ...

  1. Technology in Parkinson's disease: Challenges and opportunities

    NARCIS (Netherlands)

    Espay, A.J.; Bonato, P.; Nahab, F.B.; Maetzler, W.; Dean, J.M.; Klucken, J.; Eskofier, B.M.; Merola, A.; Horak, F.; Lang, A.E.; Reilmann, R.; Giuffrida, J.; Nieuwboer, A.; Horne, M.; Little, M.A.; Litvan, I.; Simuni, T.; Dorsey, E.R.; Burack, M.A.; Kubota, K.; Kamondi, A.; Godinho, C.; Daneault, J.F.; Mitsi, G.; Krinke, L.; Hausdorff, J.M.; Bloem, B.R.; Papapetropoulos, S.

    2016-01-01

    The miniaturization, sophistication, proliferation, and accessibility of technologies are enabling the capture of more and previously inaccessible phenomena in Parkinson's disease (PD). However, more information has not translated into a greater understanding of disease complexity to satisfy

  2. Dopamine Receptors and Parkinson's Disease

    Directory of Open Access Journals (Sweden)

    Shin Hisahara

    2011-01-01

    Full Text Available Parkinson's disease (PD is a progressive extrapyramidal motor disorder. Pathologically, this disease is characterized by the selective dopaminergic (DAergic neuronal degeneration in the substantia nigra. Correcting the DA deficiency in PD with levodopa (L-dopa significantly attenuates the motor symptoms; however, its effectiveness often declines, and L-dopa-related adverse effects emerge after long-term treatment. Nowadays, DA receptor agonists are useful medication even regarded as first choice to delay the starting of L-dopa therapy. In advanced stage of PD, they are also used as adjunct therapy together with L-dopa. DA receptor agonists act by stimulation of presynaptic and postsynaptic DA receptors. Despite the usefulness, they could be causative drugs for valvulopathy and nonmotor complication such as DA dysregulation syndrome (DDS. In this paper, physiological characteristics of DA receptor familyare discussed. We also discuss the validity, benefits, and specific adverse effects of pharmaceutical DA receptor agonist.

  3. Premotor Diagnosis of Parkinson's Disease

    Institute of Scientific and Technical Information of China (English)

    Heinz Reichmann

    2017-01-01

    Typical Parkinsonian symptoms consist of bradykinesia plus rigidity and/or resting tremor.Some time later postural instability occurs.Pre-motor symptoms such as hyposmia,constipation,REM sleep behavior disorder and depression may antecede these motor symptoms for years.It would be ideal,if we had a biomarker which would allow to predict who with one or two of these pre-motor symptoms will develop the movement disorder Parkinson's disease (PD).Thus,it is interesting to learn that biopsies of the submandibular gland or colon biopsies may be a means to predict PD,if there is a high amout of abnormally folded alpha-synuclein and phosphorylated alpha-synuclein.This would be of relevance if we would have available means to stop the propagation of abnormal alpha-synuclein which is otherwise one of the reasons of this spreading disease PD.

  4. Asymmetrical Pedaling Patterns in Parkinson's Disease Patients

    Science.gov (United States)

    Penko, Amanda L.; Hirsch, Joshua R.; Voelcker-Rehage, Claudia; Martin, Philip E.; Blackburn, Gordon; Alberts, Jay L.

    2015-01-01

    Background Approximately 1.5 million Americans are affected by Parkinson's disease [1] which includes the symptoms of postural instability and gait dysfunction. Currently, clinical evaluations of postural instability and gait dysfunction consist of a subjective rater assessment of gait patterns using items from the Unified Parkinson's Disease Rating Scale, and assessments can be insensitive to the effectiveness of medical interventions. Current research suggests the importance of cycling for Parkinson's disease patients, and while Parkinson's gait has been evaluated in previous studies, little is known about lower extremity control during cycling. The purpose of this study is to examine the lower extremity coordination patterns of Parkinson's patients during cycling. Methods Twenty five participants, ages 44-72, with a clinical diagnosis of idiopathic Parkinson's disease participated in an exercise test on a cycle ergometer that was equipped with pedal force measurements. Crank torque, crank angle and power produced by right and left leg were measured throughout the test to calculate Symmetry Index at three stages of exercise (20 Watt, 60 Watt, maximum performance). Findings Decreases in Symmetry Index were observed for average power output in Parkinson's patients as workload increased. Maximum power Symmetry Index showed a significant difference in symmetry between performance at both the 20 Watt and 60 Watt stage and the maximal resistance stage. Minimum power Symmetry Index did not show significant differences across the stages of the test. While lower extremity asymmetries were present in Parkinson's patients during pedaling, these asymmetries did not correlate to postural instability and gait dysfunction Unified Parkinson's Disease Rating Scale scores. Interpretation This pedaling analysis allows for a more sensitive measure of lower extremity function than the Unified Parkinson's Disease Rating Scale and may help to provide unique insight into current and

  5. Recent developments in biomarkers in Parkinson disease

    Science.gov (United States)

    Schapira, Anthony H.V.

    2013-01-01

    Purpose of review Parkinson disease is the second most common neurodegenerative disease after Alzheimer disease, and current demographic trends indicate a life-time risk approaching 4% and predict a doubling of prevalence by 2030. Strategies are being developed to apply recent advances in our understanding of the cause of Parkinson disease to the development of biomarkers that will enable the identification of at-risk individuals, enable early diagnosis and reflect the progression of disease. The latter will be particularly important for the testing of disease-modifying therapies. This review summarizes recent advances in Parkinson disease biomarker development. Recent findings Recent reports continue to reflect the application of a variety of clinical, imaging or biochemical measurements, alone or in combination, to general Parkinson disease populations. Probably the most promising is the assay of alpha-synuclein in the diagnosis and evolution of Parkinson disease. At present, detection techniques are still being refined, but once accurate and reproducible assays are available, it will be important to define the relationship of these to early diagnosis and progression. Alpha-synuclein concentrations may also be modulated by certain disease-modifying agents in development and so may represent a measure of their efficacy. It has to be accepted that no single measure currently fulfils all the necessary criteria for a biomarker in Parkinson disease, but combinations of measures are more likely to deliver benefit. Summary The Parkinson disease biomarker field is approaching a stage when certain combinations of clinical, imaging and biochemical measures may identify a proportion of individuals at risk for developing the disease. However, their general applicability may be limited. Attention is now turning to stratification of Parkinson disease into certain at-risk groups defined by genotype. The application of multimodal screening to these populations may be more

  6. Neuropsychiatric Manifestations of Parkinson`s Disease

    Directory of Open Access Journals (Sweden)

    Ana Peixinho

    2014-10-01

    Full Text Available Parkinson’s disease affects about 1% of the world population older than 65 years. It’s most frequently considered a movement disorder, but the neuropsychiatric manifestations associated with the disease and/or its treatment may be of equal or greater significance in some patients. We will discuss briefly the epidemiology, physiopathology and diagnosis of Parkinson’s disease, highlighting the neuropsychiatric manifestations: depression, anxiety, psychosis, dementia, sleep disorders, dopamine dysregulation syndrome.

  7. Electroconvulsive Therapy Intervention for Parkinson's Disease.

    Science.gov (United States)

    Narang, Puneet; Glowacki, Anna; Lippmann, Steven

    2015-01-01

    Electroconvulsive therapy is an established means to improve function in a variety of psychiatric and neurologic conditions, particularly for patients who remain treatment-refractory. Parkinson's disease is a neurodegenerative disorder that sometimes does not respond well to conventional pharmacotherapies. Reports have indicated that electroconvulsive therapy may be an effective and safe treatment for those patients with Parkinson's disease who are not optimally responding to first-line treatments. Despite these reports, however, electroconvulsive therapy is not often used by clinicians in patients with treatment-resistant Parkinson's disease, perhaps due to stigma, lack of knowledge regarding its safety and efficacy, and/or inability to predict the duration of therapeutic benefit. Our objective was to determine if the available literature on ECT supports it as a safe and effective treatment option in patients with treatment-refractory Parkinson's disease. Motoric improvement induced by electroconvulsive therapy has been documented for decades in persons with Parkinson's disease. Efficacy and safety are reported following electroconvulsive therapy in people with Parkinson's disease who have sub-optimal response to medicines or experience the "on/off" phenomenon to L-dopa. Electroconvulsive therapy is an effective option for acute and maintenance treatment of Parkinson's disease in select patients. Inability to predict how long the beneficial effects of ECT therapy will last in patients with Parkinson's disease may be a reason why this treatment is underutilized by clinicians. More research is warranted to clarify parameters for application and duration of therapeutic benefit in individuals with difficult-to-treat Parkinson's disease.

  8. Bipolar disorder, a precursor of Parkinson's disease?

    Directory of Open Access Journals (Sweden)

    Tânia M.S. Novaretti

    Full Text Available ABSTRACT Parkinson's disease is a neurodegenerative disorder predominantly resulting from dopamine depletion in the substantia nigra pars compacta. Some psychiatric disorders may have dopaminergic dysfunction as their substrate. We describe a well-documented case of Parkinson's disease associated with Bipolar Disorder. Although there is some knowledge about the association between these diseases, little is known about its pathophysiology and correlation. We believe that among various hypotheses, many neurotransmitters are linked to this pathophysiology.

  9. Parkinson disease and smoking revisited

    DEFF Research Database (Denmark)

    Ritz, Beate; Lee, Pei-Chen; Lassen, Christina F

    2014-01-01

    patients with PD than controls ever established a smoking habit. Among former smokers, those with greater difficulty quitting or using nicotine substitutes were less likely to develop PD, with the risk being lowest among those reporting "extremely difficult to quit" compared with "easy to quit." Nicotine......OBJECTIVE: To assess whether being able to quit smoking is an early marker of Parkinson disease (PD) onset rather than tobacco being "neuroprotective," we analyzed information about ease of quitting and nicotine substitute use. METHODS: For this case-control study, we identified 1,808 patients...... substitute usage was strongly associated with quitting difficulty and duration of smoking, i.e., most strongly among current smokers, followed by former smokers who had used nicotine substitutes, and less strongly among former smokers who never used substitutes. CONCLUSIONS: Our data support the notion...

  10. Mitochondrial Dysfunction in Parkinson's Disease

    Directory of Open Access Journals (Sweden)

    P. C. Keane

    2011-01-01

    Full Text Available Parkinson's disease (PD is a progressive, neurodegenerative condition that has increasingly been linked with mitochondrial dysfunction and inhibition of the electron transport chain. This inhibition leads to the generation of reactive oxygen species and depletion of cellular energy levels, which can consequently cause cellular damage and death mediated by oxidative stress and excitotoxicity. A number of genes that have been shown to have links with inherited forms of PD encode mitochondrial proteins or proteins implicated in mitochondrial dysfunction, supporting the central involvement of mitochondria in PD. This involvement is corroborated by reports that environmental toxins that inhibit the mitochondrial respiratory chain have been shown to be associated with PD. This paper aims to illustrate the considerable body of evidence linking mitochondrial dysfunction with neuronal cell death in the substantia nigra pars compacta (SNpc of PD patients and to highlight the important need for further research in this area.

  11. Comparative study of CT scan findings and intellectual function between Parkinson's disease and vascular Parkinsonism

    International Nuclear Information System (INIS)

    Indo, Toshikatsu

    1986-01-01

    Comparative study of CT scan findings and intellectual function between 64 cases with Parkinson's disease and 25 cases with vascular Parkinsonism was carried out. The rate of abnormality of CT scan findings, either ventricular dilatation or widening of sulci, in vascular Parkinsonism was strikingly high compared with Parkinson's disease. Patients could be divided into three groups according to the degree of overall abnormalities of CT scan findings (group A: markedly abnormal, group B: mildly abnormal, group C: normal). Incidences of group A were 9.4 % in Parkinson's disease and 52 % in vascular Parkinsonism, whereas those of group C were 56 % in the former and 28 % in the latter. All patients of group A were over 65 years of age in Parkinson's disease, but one-third of patients in group A were under 59 years of age in vascular Parkinsonism. Moreover, in vascular Parkinsonism, the level of disability was directly proportional to the abnormality of CT scan findings. The rate of predementia and dementia classified by Hasegawa's intelligence scale was 12.5 % in Parkinson's disease and 48 % in vascular Parkinsonism. No difference was found between the mean values of intelligence scale and background factors in Parkinson's disease. On the other hand, the mean value was significantly low in proportion to the poverty of L-dopa effect in vascular Parkinsonism. From these results, the abnormality of CT scan findings and intellectual impairment were probably related to the cerebral pathological process in vascular Parkinsonism, but these relationship was absent in Parkinson's disease. (author)

  12. Comparative study of CT scan findings and intellectual function between Parkinson's disease and vascular Parkinsonism

    Energy Technology Data Exchange (ETDEWEB)

    Indo, Toshikatsu

    1986-01-01

    Comparative study of CT scan findings and intellectual function between 64 cases with Parkinson's disease and 25 cases with vascular Parkinsonism was carried out. The rate of abnormality of CT scan findings, either ventricular dilatation or widening of sulci, in vascular Parkinsonism was strikingly high compared with Parkinson's disease. Patients could be divided into three groups according to the degree of overall abnormalities of CT scan findings (group A: markedly abnormal, group B: mildly abnormal, group C: normal). Incidences of group A were 9.4 % in Parkinson's disease and 52 % in vascular Parkinsonism, whereas those of group C were 56 % in the former and 28 % in the latter. All patients of group A were over 65 years of age in Parkinson's disease, but one-third of patients in group A were under 59 years of age in vascular Parkinsonism. Moreover, in vascular Parkinsonism, the level of disability was directly proportional to the abnormality of CT scan findings. The rate of predementia and dementia classified by Hasegawa's intelligence scale was 12.5 % in Parkinson's disease and 48 % in vascular Parkinsonism. No difference was found between the mean values of intelligence scale and background factors in Parkinson's disease. On the other hand, the mean value was significantly low in proportion to the poverty of L-dopa effect in vascular Parkinsonism. From these results, the abnormality of CT scan findings and intellectual impairment were probably related to the cerebral pathological process in vascular Parkinsonism, but these relationship was absent in Parkinson's disease.

  13. Environmental Exposures and Parkinson?s Disease

    OpenAIRE

    Nandipati, Sirisha; Litvan, Irene

    2016-01-01

    Parkinson’s disease (PD) affects millions around the world. The Braak hypothesis proposes that in PD a pathologic agent may penetrate the nervous system via the olfactory bulb, gut, or both and spreads throughout the nervous system. The agent is unknown, but several environmental exposures have been associated with PD. Here, we summarize and examine the evidence for such environmental exposures. We completed a comprehensive review of human epidemiologic studies of pesticides, selected industr...

  14. Incidence, Risk and Prognosis of Parkinson Disease

    NARCIS (Netherlands)

    L.M.L. de Lau (Lonneke)

    2006-01-01

    textabstractParkinson disease (PD) is the second most common neurodegenerative disorder, and is clinically characterized by resting tremor, rigidity, bradykinesia and postural imbalance. These typical motor symptoms result from a selective degeneration of dopamine-producing neurons in the

  15. Parkinson's disease and driving ability

    Science.gov (United States)

    Singh, Rajiv; Pentland, Brian; Hunter, John; Provan, Frances

    2007-01-01

    Objectives To explore the driving problems associated with Parkinson's disease (PD) and to ascertain whether any clinical features or tests predict driver safety. Methods The driving ability of 154 individuals with PD referred to a driving assessment centre was determined by a combination of clinical tests, reaction times on a test rig and an in‐car driving test. Results The majority of cases (104, 66%) were able to continue driving although 46 individuals required an automatic transmission and 10 others needed car modifications. Ability to drive was predicted by the severity of physical disease, age, presence of other associated medical conditions, particularly dementia, duration of disease, brake reaction, time on a test rig and score on a driving test (all pautomatic transmission. A combination of clinical tests and in‐car driving assessment will establish safety to drive, and a number of clinical correlates can be shown to predict the likely outcome and may assist in the decision process. This is the largest series of consecutive patients seen at a driving assessment centre reported to date, and the first to devise a scoring system for on‐road driving assessment. PMID:17178820

  16. Physical mapping of the major early-onset familial Alzheimer`s disease locus on chromosome 14 and analysis of candidate gene sequences

    Energy Technology Data Exchange (ETDEWEB)

    Tanzi, R.E.; Romano, D.M.; Crowley, A.C. [Harvard Medical School, Charlestown, MA (United States)] [and others

    1994-09-01

    Genetic studies of kindreds displaying evidence for familial AD (FAD) have led to the localization of gene defects responsible for this disorder on chromosomes 14, 19, and 21. A minor early-onset FAD gene on chromosome 21 has been identified to enode the amyloid precursor protein (APP), and the late-onset FAD susceptibility locus on chromosome 19 has been shown to be in linkage disequilibrium with the E4 allele of the APOE gene. Meanwhile, the locus responsible for the major form of early-onset FAD on chromosome 14q24 has not yet been identified. By recombinational analysis, we have refined the minimal candidate region containing the gene defect to approximately 3 megabases in 14q24. We will describe our laboratory`s progress on attempts to finely localize this locus, as well as test known candidate genes from this region for either inclusion in the minimal candidate region or the presence of pathogenic mutations. Candidate genes that have been tested so far include cFOS, heat shock protein 70 member (HSF2A), transforming growth factor beta (TGFB3), the trifunctional protein C1-THF synthase (MTHFD), bradykinin receptor (BR), and the E2k component of a-ketoglutarate dehydrogenase. HSP2A, E2k, MTHFD, and BR do not map to the current defined minimal candidate region; however, sequence analysis must be performed to confirm exclusion of these genes as true candidates. Meanwhile, no pathogenic mutations have yet been found in cFOS or TGFB3. We have also isolated a large number of novel transcribed sequences from the minimal candidate region in the form of {open_quotes}trapped exons{close_quotes} from cosmids identified by hybridization to select YAC clones; we are currently in the process of searching for pathogenic mutations in these exons in affected individuals from FAD families.

  17. Neurophysiology of Drosophila Models of Parkinson's Disease

    OpenAIRE

    West, Ryan J. H.; Furmston, Rebecca; Williams, Charles A. C.; Elliott, Christopher J. H.

    2015-01-01

    We provide an insight into the role Drosophila has played in elucidating neurophysiological perturbations associated with Parkinson's disease- (PD-) related genes. Synaptic signalling deficits are observed in motor, central, and sensory systems. Given the neurological impact of disease causing mutations within these same genes in humans the phenotypes observed in fly are of significant interest. As such we observe four unique opportunities provided by fly nervous system models of Parkinson's ...

  18. Edaravone prevents neurotoxicity of mutant L166P DJ-1 in Parkinson's disease.

    Science.gov (United States)

    Li, Bing; Yu, Dawei; Xu, Zhiying

    2013-10-01

    Parkinson's disease (PD), which is estimated to affect approximately 1 % of the population over the age of 65, is the second most common neurodegenerative disorder after Alzheimer's disease. It was reported that pathogenic mutations in DJ-1 lead to autosomal recessive early-onset familial Parkinsonism. The L166P mutant of DJ-1 is the most commonly studied loss-of-function mutation in early onset familial PD, but the underlying mechanisms are still unknown. Edaravone is a powerful free radical scavenger used in clinical treatment for cerebral ischemic stroke. In the present study, we investigated the effects of edaravone on the neurotoxicity in PD-induced isoforms of DJ-1 containing the mutation L166P. Our results indicated that edaravone was able to significantly attenuate oxidative stress and improve mitochondrial function. Furthermore, edaravone was found to reduce apoptosis in Neuro2a cells through modulation of mitochondria-dependent apoptosis pathways. Interestingly, our result also demonstrated that edaravone was able to up-regulate VMAT2 expression in N2a cells in a dose-dependent manner. Our findings enhance the understanding of the neuro-protective effects of edaravone in cell models and suggest that edaravone offers significant protection in a PD-related in vitro model.

  19. Dopaminreceptorscintigraphy in Parkinson's disease - Clinical correlation

    International Nuclear Information System (INIS)

    Riklund Aahlstroem, K.E.; Hietala, S.-O.; Johansson, F.

    2002-01-01

    Parkinson's disease is a severe, progressive neuro degenerative disorder which is characterised by a degeneration of the dopamine containing cells and loss of dopamine transporters (DA) in substantia nigra. Earlier 123 I-β-CIT SPECT studies have demonstrated this loss of DA content in Parkinson's disease. Recently a new radioligand 123 I-FP-CIT, with faster kinetics than b-CIT became available for imaging of the DA transporter. The applicability of this radioligand was tested in a large clinical material with early and advanced Parkinson's disease using a one day protocol. 123 I-FP-CIT uptake was decreased in patients with Parkinson's disease and this was seen three hours after injection of the radioligand. In the Parkinson's disease group the uptake in the putamen was reduced more than in the caudate nucleus. Specific to non-specific striatal uptake ratios correlated with the Hoehn and Yahr stage. It appeared that 123 I-FP-CIT SPECT allows a significant discrimination between patients with Parkinson's disease and other movement disorders. The scintigraphic observations were correlated to clinical findings. The results will be presented and discussed

  20. Motivational modes and learning in Parkinson's disease.

    Science.gov (United States)

    Foerde, Karin; Braun, Erin Kendall; Higgins, E Tory; Shohamy, Daphna

    2015-08-01

    Learning and motivation are intrinsically related, and both have been linked to dopamine. Parkinson's disease results from a progressive loss of dopaminergic inputs to the striatum and leads to impairments in motivation and learning from feedback. However, the link between motivation and learning in Parkinson's disease is not well understood. To address this gap, we leverage a well-established psychological theory of motivation, regulatory mode theory, which distinguishes between two functionally independent motivational concerns in regulating behavior: a concern with having an effect by initiating and maintaining movement (Locomotion) and a concern with establishing what is correct by critically evaluating goal pursuit means and outcomes (Assessment). We examined Locomotion and Assessment in patients with Parkinson's disease and age-matched controls. Parkinson's disease patients demonstrated a selective decrease in Assessment motivation but no change in Locomotion motivation, suggesting that Parkinson's disease leads to a reduced tendency to evaluate and monitor outcomes. Moreover, weaker Assessment motivation was correlated with poorer performance on a feedback-based learning task previously shown to depend on the striatum. Together, these findings link a questionnaire-based personality inventory with performance on a well-characterized experimental task, advancing our understanding of how Parkinson's disease affects motivation with implications for well-being and treatment outcomes. © The Author (2014). Published by Oxford University Press. For Permissions, please email: journals.permissions@oup.com.