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Sample records for parkinson disease huntington

  1. Falls in Parkinson's disease and Huntington's disease

    NARCIS (Netherlands)

    Grimbergen, Yvette Anna Maria

    2012-01-01

    Falls in Parkinson’s (PD) and Huntington’s disease (HD) are common. 50 % of moderately affected PD patients sustained two or more falls during a prospective follow-up of 6 months. During a 3 month period 40 % of HD patients reported one or more fall. Many falls resulted in minor injuries and 42 % of

  2. The use of stem cells in regenerative medicine for Parkinson's and Huntington's Diseases.

    Science.gov (United States)

    Lescaudron, L; Naveilhan, P; Neveu, I

    2012-01-01

    Cell transplantation has been proposed as a means of replacing specific cell populations lost through neurodegenerative processes such as that seen in Parkinson's or Huntington's diseases. Improvement of the clinical symptoms has been observed in a number of Parkinson and Huntington's patients transplanted with freshly isolated fetal brain tissue but such restorative approach is greatly hampered by logistic and ethical concerns relative to the use of fetal tissue, in addition to potential side effects that remain to be controlled. In this context, stem cells that are capable of self-renewal and can differentiate into neurons, have received a great deal of interest, as demonstrated by the numerous studies based on the transplantation of neural stem/progenitor cells, embryonic stem cells or mesenchymal stem cells into animal models of Parkinson's or Huntington's diseases. More recently, the induction of pluripotent stem cells from somatic adult cells has raised a new hope for the treatment of neurodegenerative diseases. In the present article, we review the main experimental approaches to assess the efficiency of cell-based therapy for Parkinson's or Huntington's diseases, and discuss the recent advances in using stem cells to replace lost dopaminergic mesencephalic or striatal neurons. Characteristics of the different stem cells are extensively examined with a special attention to their ability of producing neurotrophic or immunosuppressive factors, as these may provide a favourable environment for brain tissue repair and long-term survival of transplanted cells in the central nervous system. Thus, stem cell therapy can be a valuable tool in regenerative medicine.

  3. Presence of tau pathology within foetal neural allografts in patients with Huntington's and Parkinson's disease.

    Science.gov (United States)

    Cisbani, Giulia; Maxan, Alexander; Kordower, Jeffrey H; Planel, Emmanuel; Freeman, Thomas B; Cicchetti, Francesca

    2017-11-01

    Cell replacement has been explored as a therapeutic strategy to repair the brain in patients with Huntington's and Parkinson's disease. Post-mortem evaluations of healthy grafted tissue in such cases have revealed the development of Huntington- or Parkinson-like pathology including mutant huntingtin aggregates and Lewy bodies. An outstanding question remains if tau pathology can also be seen in patients with Huntington's and Parkinson's disease who had received foetal neural allografts. This was addressed by immunohistochemical/immunofluorescent stainings performed on grafted tissue of two Huntington's disease patients, who came to autopsy 9 and 12 years post-transplantation, and two patients with Parkinson's disease who came to autopsy 18 months and 16 years post-transplantation. We show that grafts also contain tau pathology in both types of transplanted patients. In two patients with Huntington's disease, the grafted tissue showed the presence of hyperphosphorylated tau [both AT8 (phospho-tau Ser202 and Thr205) and CP13 (pSer202) immunohistochemical stainings] pathological inclusions, neurofibrillary tangles and neuropil threads. In patients with Parkinson's disease, the grafted tissue was characterized by hyperphosphorylated tau (AT8; immunofluorescent staining) pathological inclusions, neurofibrillary tangles and neuropil threads but only in the patient who came to autopsy 16 years post-transplantation. Abundant tau-related pathology was observed in the cortex and striatum of all cases studied. While the striatum of the grafted Huntington's disease patient revealed an equal amount of 3-repeat and 4-repeat isoforms of tau, the grafted tissue showed elevated 4-repeat isoforms by western blot. This suggests that transplants may have acquired tau pathology from the host brain, although another possibility is that this was due to acceleration of ageing. This finding not only adds to the recent reports that tau pathology is a feature of these neurodegenerative

  4. Huntington's disease

    DEFF Research Database (Denmark)

    Hjermind, Lena Elisabeth; Law, Ian; Jønch, Aia

    2011-01-01

    In this open-label pilot study, the authors evaluated the effect of memantine on the distribution of brain glucose metabolism in four Huntington's disease (HD) patients as determined by serial 18-fluoro-deoxyglucose [F(18)]FDG-PET scans over a period of 3-4 months (90-129 days, with one patient...

  5. Six psychotropics for pre-symptomatic & early Alzheimer's (MCI, Parkinson's, and Huntington's disease modification

    Directory of Open Access Journals (Sweden)

    Edward C Lauterbach

    2016-01-01

    Full Text Available The quest for neuroprotective drugs to slow the progression of neurodegenerative diseases (NDDs, including Alzheimer's disease (AD, Parkinson's disease (PD, and Huntington's disease (HD, has been largely unrewarding. Preclinical evidence suggests that repurposing quetiapine, lithium, valproate, fluoxetine, donepezil, and memantine for early and pre-symptomatic disease-modification in NDDs may be promising and can spare regulatory barriers. The literature of these psychotropics in early stage and pre-symptomatic AD, PD, and HD is reviewed and propitious findings follow. Mild cognitive impairment (MCI phase of AD: salutary human randomized controlled trial findings for low-dose lithium and, in selected patients, donepezil await replication. Pre-symptomatic AD: human epidemiological data indicate that lithium reduces AD risk. Animal model studies (AMS reveal encouraging results for quetiapine, lithium, donepezil, and memantine. Early PD: valproate AMS findings show promise. Pre-symptomatic PD: lithium and valproate AMS findings are encouraging. Early HD: uncontrolled clinical data indicate non-progression with lithium, fluoxetine, donepezil, and memantine. Pre-symptomatic HD: lithium and valproate are auspicious in AMS. Many other promising findings awaiting replication (valproate in MCI; lithium, valproate, fluoxetine in pre-symptomatic AD; lithium in early PD; lithium, valproate, fluoxetine in pre-symptomatic PD; donepezil in early HD; lithium, fluoxetine, memantine in pre-symptomatic HD are reviewed. Dose- and stage-dependent effects are considered. Suggestions for signal-enhancement in human trials are provided for each NDD stage.

  6. The Medicinal Chemistry of Natural and Semisynthetic Compounds against Parkinson's and Huntington's Diseases.

    Science.gov (United States)

    Zanforlin, Enrico; Zagotto, Giuseppe; Ribaudo, Giovanni

    2017-11-15

    Among the diseases affecting the central nervous system (CNS), neurodegenerations attract the interest of both the clinician and the medicinal chemist. The increasing average age of population, the growing number of patients, and the lack of long-term effective remedies push ahead the quest for novel tools against this class of pathologies. We present a review on the state of the art of the molecules (or combination of molecules) of natural origin that are currently under study against two well-defined pathologies: Parkinson's disease (PD) and Huntington's disease (HD). Nowadays, very few tools are available for preventing or counteracting the progression of such diseases. Two major parameters were considered for the preparation of this review: particular attention was reserved to these research works presenting well-defined molecular mechanisms for the studied compounds, and where available, papers reporting in vivo data were preferred. A literature search for peer-reviewed articles using PubMed, Scopus, and Reaxys databases was performed, exploiting different keywords and logical operators: 91 papers were considered (preferentially published after 2015). The review presents a brief overview on the etiology of the studied neurodegenerations and the current treatments, followed by a detailed discussion of the natural and semisynthetic compounds dividing them in different paragraphs considering their several mechanisms of action.

  7. Huntington's Disease

    Science.gov (United States)

    ... monitor a disease) for HD. A large and related NINDS-supported study aims to identify additional genetic factors in people that influence the course of the disease. Other research hopes to identify variations in the genomes of individuals with HD that may point to new targets ...

  8. Learning about Huntington's Disease

    Science.gov (United States)

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

  9. Clinical neurogenetics: huntington disease.

    Science.gov (United States)

    Bordelon, Yvette M

    2013-11-01

    Huntington disease (HD) is an autosomal dominant, adult-onset, progressive neurodegenerative disease characterized by the triad of abnormal movements (typically chorea), cognitive impairment, and psychiatric problems. It is caused by an expanded CAG repeat in the gene encoding the protein huntingtin on chromosome 4 and causes progressive atrophy of the striatum as well as cortical and other extrastriatal structures. Genetic testing has been available since 1993 to confirm diagnosis in affected adults and for presymptomatic testing in at-risk individuals. This review covers HD signs, symptoms, and pathophysiology; current genetic testing issues; and current and future treatment strategies. Copyright © 2013 Elsevier Inc. All rights reserved.

  10. Psychopathology in Huntington's disease

    NARCIS (Netherlands)

    Duijn, Erik van

    2010-01-01

    Dit proefschrift begint met een overzichtsartikel van oorspronkelijke onderzoek naar psychopathologie bij mutatiedragers voor de ziekte van Huntington. Aansluitend worden de resultaten van een cohortstudie naar de aanwezigheid en ernst van psychopathologie bij mensen met de ziekte van Huntington in

  11. Gait variability and basal ganglia disorders: stride-to-stride variations of gait cycle timing in Parkinson's disease and Huntington's disease

    Science.gov (United States)

    Hausdorff, J. M.; Cudkowicz, M. E.; Firtion, R.; Wei, J. Y.; Goldberger, A. L.

    1998-01-01

    The basal ganglia are thought to play an important role in regulating motor programs involved in gait and in the fluidity and sequencing of movement. We postulated that the ability to maintain a steady gait, with low stride-to-stride variability of gait cycle timing and its subphases, would be diminished with both Parkinson's disease (PD) and Huntington's disease (HD). To test this hypothesis, we obtained quantitative measures of stride-to-stride variability of gait cycle timing in subjects with PD (n = 15), HD (n = 20), and disease-free controls (n = 16). All measures of gait variability were significantly increased in PD and HD. In subjects with PD and HD, gait variability measures were two and three times that observed in control subjects, respectively. The degree of gait variability correlated with disease severity. In contrast, gait speed was significantly lower in PD, but not in HD, and average gait cycle duration and the time spent in many subphases of the gait cycle were similar in control subjects, HD subjects, and PD subjects. These findings are consistent with a differential control of gait variability, speed, and average gait cycle timing that may have implications for understanding the role of the basal ganglia in locomotor control and for quantitatively assessing gait in clinical settings.

  12. Huntington\\'s disease: Genetic heterogeneity in black African patients

    African Journals Online (AJOL)

    Objective. Huntington's disease (HD) has been reported to occur rarely in black patients. A new genetic variant– Huntington's disease-like 2 (HDL2) – occurring more frequently in blacks, has recently been described. The absence of an expanded trinucleotide repeat at the chromosome 4 HD locus was previously regarded ...

  13. Huntington's disease: a perplexing neurological disease ...

    African Journals Online (AJOL)

    Huntington's disease is an inherited intricate brain illness. It is a neurodegenerative, insidious disorder; the onset of the disease is very late to diagnose. It is caused by an expanded CAG repeat in the Huntingtin gene, which encodes an abnormally long polyglutamine repeat in the Huntingtin protein. Huntington's disease ...

  14. Huntington's disease presenting as amyotrophic lateral sclerosis.

    LENUS (Irish Health Repository)

    Phukan, Julie

    2010-08-01

    We present the clinical, electrophysiological and molecular genetic findings of a 58-year-old male with genetically confirmed Huntington\\'s disease (HD) and concurrent clinically definite ALS by El Escorial criteria. The patient presented with asymmetric upper limb amyotrophy and weakness, and subsequently developed chorea and cognitive change. Genetic testing confirmed the presence of expanded trinucleotide repeats in huntingtin, consistent with a diagnosis of Huntington\\'s disease. This case confirms the rare coexistence of Huntington\\'s disease and motor neuron degeneration.

  15. Music therapy in Huntington's disease

    NARCIS (Netherlands)

    Bruggen-Rufi, van C.H.M.

    2018-01-01

    The thesis reports about the effects of music therapy with patients in the late stage of Huntington's disease. A literature review, a focus group study, a randomized controlled trial, an evaluation for complex interventions and a case report study are integrated in the thesis. The beneficial

  16. Parkinson's Disease Dementia

    Science.gov (United States)

    ... 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 ...

  17. Parkinson's Disease Videos

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  18. Factor analysis of the hospital anxiety and depression scale among a Huntington's disease population

    DEFF Research Database (Denmark)

    Dale, Maria; Maltby, John; Martucci, Rossana

    2015-01-01

    INTRODUCTION: Depression and anxiety are common in Huntington's disease, a genetic neurodegenerative disorder. There is a need for measurement tools of mood to be validated within a Huntington's disease population. The current study aimed to analyze the factor structure of the Hospital Anxiety...... and Depression Scale in Huntington's disease. METHODS: Data from the European Huntington's Disease Network study REGISTRY 3 were used to undertake a factor analysis of the scale among a sample of 492 Huntington's disease mutation carriers. The sample was randomly divided into two equal subsamples...... support for an eight-item version of the scale to be used as a measure of general distress within Huntington's disease populations. © 2015 International Parkinson and Movement Disorder Society....

  19. Parkinson's Disease Videos

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  20. Parkinson's Disease Videos

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  1. Huntington's disease : Psychological aspects of predictive testing

    NARCIS (Netherlands)

    Timman, Reinier

    2005-01-01

    Predictive testing for Huntington's disease appears to have long lasting psychological effects. The predictive test for Huntington's disease (HD), a hereditary disease of the nervous system, was introduced in the Netherlands in the late eighties. As adverse consequences of the test were

  2. 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...

  3. Parkinson's Disease Videos

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  4. Dysphagia in Huntington's disease

    NARCIS (Netherlands)

    Heemskerk-van den Berg, Willemien Antoinette

    2015-01-01

    Huntington’s disease (HD) is a progressive neurodegenerative disease with an autosomal, dominant mode of inheritance. Patients with HD suffer from dysphagia which can have serious consequences, such as weight loss, dehydration, and pneumonia leading to death. Many patients with HD die of aspiration

  5. 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 ...

  6. Huntington's disease: a clinical review

    Directory of Open Access Journals (Sweden)

    Roos Raymund AC

    2010-12-01

    Full Text Available Abstract Huntington disease (HD is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. Prevalence in the Caucasian population is estimated at 1/10,000-1/20,000. Mean age at onset of symptoms is 30-50 years. In some cases symptoms start before the age of 20 years with behavior disturbances and learning difficulties at school (Juvenile Huntington's disease; JHD. The classic sign is chorea that gradually spreads to all muscles. All psychomotor processes become severely retarded. Patients experience psychiatric symptoms and cognitive decline. HD is an autosomal dominant inherited disease caused by an elongated CAG repeat (36 repeats or more on the short arm of chromosome 4p16.3 in the Huntingtine gene. The longer the CAG repeat, the earlier the onset of disease. In cases of JHD the repeat often exceeds 55. Diagnosis is based on clinical symptoms and signs in an individual with a parent with proven HD, and is confirmed by DNA determination. Pre-manifest diagnosis should only be performed by multidisciplinary teams in healthy at-risk adult individuals who want to know whether they carry the mutation or not. Differential diagnoses include other causes of chorea including general internal disorders or iatrogenic disorders. Phenocopies (clinically diagnosed cases of HD without the genetic mutation are observed. Prenatal diagnosis is possible by chorionic villus sampling or amniocentesis. Preimplantation diagnosis with in vitro fertilization is offered in several countries. There is no cure. Management should be multidisciplinary and is based on treating symptoms with a view to improving quality of life. Chorea is treated with dopamine receptor blocking or depleting agents. Medication and non-medical care for depression and aggressive behavior may be required. The progression of the disease leads to a complete dependency in daily life, which

  7. Parkinson's Disease Videos

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  8. Parkinson's Disease Videos

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  9. Personality Traits in Huntington's Disease

    DEFF Research Database (Denmark)

    Larsen, Ida Unmack; Mortensen, Erik Lykke; Vinther-Jensen, Tua

    2016-01-01

    Huntington's disease (HD) is associated with risk for developing psychiatric symptoms. Vulnerability or resilience to psychiatric symptoms may be associated with personality traits. This exploratory study, aimed to investigate personality traits in a large cohort of HD carriers and at risk gene......-expansion negative individuals (HD non-carriers), exploring whether carrying the HD gene or growing up in an HD family influences personality traits. Forty-seven HD carriers, Thirty-nine HD non-carriers, and 121 healthy controls answered the Danish version of the revised NEO personality inventory. Comparisons...... symptoms. Our findings suggest that, there is no direct effect of the HD gene on personality traits, but that personality assessment may be relevant to use when identifying individuals from HD families who are vulnerable to develop psychiatric symptoms....

  10. Clinical presentation of juvenile Huntington disease

    Directory of Open Access Journals (Sweden)

    Ruocco Heloísa H.

    2006-01-01

    Full Text Available OBJECTIVE: To describe the clinical presentation a group of patients with juvenile onset of Huntington disease. METHOD: All patients were interviewed following a structured clinical questioner. Patients were genotyped for the trinucleotide cytosine-adenine-guanine (CAG repeat in the Huntington Disease gene. High resolution brain MRI was performed in all patients. RESULTS: We identified 4 patients with juvenile onset of disease among 50 patients with Huntington disease followed prospectively in our Neurogenetics clinic. Age at onset varied from 3 to 13 years, there were 2 boys, and 3 patients had a paternal inheritance of the disease. Expanded Huntington disease allele sizes varied from 41 to 69 trinucleotide repeats. The early onset patients presented with rigidity, bradykinesia, dystonia, dysarthria, seizures and ataxia. MRI showed severe volume loss of caudate and putamen nuclei (p=0.001 and reduced cerebral and cerebellum volumes (p=0.01. CONCLUSION: 8% of Huntington disease patients seen in our clinic had juvenile onset of the disease. They did not present with typical chorea as seen in adult onset Huntington disease. There was a predominance of rigidity and bradykinesia. Two other important clinical features were seizures and ataxia, which related with the imaging findings of early cortical atrophy and cerebellum volume loss.

  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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  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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  6. Parkinson's Disease Videos

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  7. Parkinson's Disease Videos

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  8. Psychiatric symptoms and CAG expansion in Huntington`s disease

    Energy Technology Data Exchange (ETDEWEB)

    Weber, M.W.; Schmid, W.; Spiegel, R. [Univ. of Zuerich (Switzerland)

    1996-02-16

    The mutation responsible for Huntington`s disease (HD) is an elongated CAG repeat in the coding region of the IT15 gene. A PCR-based test with high sensitivity and accuracy is now available to identify asymptomatic gene carriers and patients. An inverse correlation between CAG copy number and age at disease onset has been found in a large number of affected individuals. The influence of the CAG repeat expansion on other phenotypic manifestations, especially specific psychiatric symptoms has not been studied intensively. In order to elucidate this situation we investigated the relation between CAG copy number and distinct psychiatric phenotypes found in 79 HD-patients. None of the four differentiated categories (personality change, psychosis, depression, and nonspecific alterations) showed significant differences in respect to size of the CAG expansion. In addition, no influence of individual sex on psychiatric presentation could be found. On the other hand in patients with personality changes maternal transmission was significantly more frequent compared with all other groups. Therefore we suggest that clinical severity of psychiatric features in HD is not directly dependent on the size of the dynamic mutation involved. The complex pathogenetic mechanisms leading to psychiatric alterations are still unknown and thus genotyping does not provide information about expected psychiatric symptoms in HD gene carriers. 40 refs., 1 fig., 2 tabs.

  9. Discrepancies in reporting the CAG repeat lengths for Huntington's disease

    DEFF Research Database (Denmark)

    Quarrell, Oliver W; Handley, Olivia; O'Donovan, Kirsty

    2011-01-01

    Huntington's disease results from a CAG repeat expansion within the Huntingtin gene; this is measured routinely in diagnostic laboratories. The European Huntington's Disease Network REGISTRY project centrally measures CAG repeat lengths on fresh samples; these were compared with the original...

  10. Parkinson disease - discharge

    Science.gov (United States)

    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 ...

  11. Parkinson's Disease Videos

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  13. Parkinson's Disease Videos

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  18. 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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  16. Parkinson's Disease Videos

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  17. Parkinson's Disease Videos

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  18. Destination and source memory in Huntington's disease

    NARCIS (Netherlands)

    El Haj, M.; Caillaud, M.; Verny, C.; Fasotti, L.; Allain, P.

    2016-01-01

    Destination memory refers to the recall of the destination of previously relayed information, and source memory refers to the recollection of the origin of received information. We compared both memory systems in Huntington's disease (HD) participants. For this, HD participants and healthy adults

  19. A Metabolic Study of Huntington's Disease.

    Directory of Open Access Journals (Sweden)

    Rajasree Nambron

    Full Text Available Huntington's disease patients have a number of peripheral manifestations suggestive of metabolic and endocrine abnormalities. We, therefore, investigated a number of metabolic factors in a 24-hour study of Huntington's disease gene carriers (premanifest and moderate stage II/III and controls.Control (n = 15, premanifest (n = 14 and stage II/III (n = 13 participants were studied with blood sampling over a 24-hour period. A battery of clinical tests including neurological rating and function scales were performed. Visceral and subcutaneous adipose distribution was measured using magnetic resonance imaging. We quantified fasting baseline concentrations of glucose, insulin, cholesterol, triglycerides, lipoprotein (a, fatty acids, amino acids, lactate and osteokines. Leptin and ghrelin were quantified in fasting samples and after a standardised meal. We assessed glucose, insulin, growth hormone and cortisol concentrations during a prolonged oral glucose tolerance test.We found no highly significant differences in carbohydrate, protein or lipid metabolism markers between healthy controls, premanifest and stage II/III Huntington's disease subjects. For some markers (osteoprotegerin, tyrosine, lysine, phenylalanine and arginine there is a suggestion (p values between 0.02 and 0.05 that levels are higher in patients with premanifest HD, but not moderate HD. However, given the large number of statistical tests performed interpretation of these findings must be cautious.Contrary to previous studies that showed altered levels of metabolic markers in patients with Huntington's disease, our study did not demonstrate convincing evidence of abnormalities in any of the markers examined. Our analyses were restricted to Huntington's disease patients not taking neuroleptics, anti-depressants or other medication affecting metabolic pathways. Even with the modest sample sizes studied, the lack of highly significant results, despite many being tested, suggests that

  20. Parkinson's Disease Videos

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  20. Parkinson's Disease Videos

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  8. 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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  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 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...

  4. Earliest functional declines in Huntington disease

    Science.gov (United States)

    Beglinger, Leigh J.; O'Rourke, Justin J.F.; Wang, Chiachi; Langbehn, Douglas R.; Duff, Kevin; Paulsen, Jane S.

    2013-01-01

    We examined the gold standard for Huntington disease (HD) functional assessment, the Unified Huntington's Disease Rating Scale (UHDRS), in a group of at-risk participants not yet diagnosed but who later phenoconverted to manifest HD. We also sought to determine which skill domains first weaken and the clinical correlates of declines. Using the UHDRS Total Functional Capacity (TFC) and Functional Assessment Scale (FAS), we examined participants from Huntington Study Group clinics who were not diagnosed at their baseline visit but were diagnosed at a later visit (N = 265). Occupational decline was the most common with 65.1% (TFC) and 55.6% (FAS) reporting some loss of ability to engage in their typical work. Inability to manage finances independently (TFC 49.2%, FAS 35.1%) and drive safely (FAS 33.5%) were also found. Functional decline was significantly predicted by motor, cognitive, and depressive symptoms. The UHDRS captured early functional losses in individuals with HD prior to formal diagnosis, however, fruitful areas for expanded assessment of early functional changes are performance at work, ability to manage finances, and driving. These are also important areas for clinical monitoring and treatment planning as up to 65% experienced loss in at least one area prior to diagnosis. PMID:20471695

  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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  8. Parkinson's Disease Videos

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  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 ...

  10. Huntington disease: Experimental models and therapeutic perspectives

    International Nuclear Information System (INIS)

    Serrano Sanchez, Teresa; Blanco Lezcano, Lisette; Garcia Minet, Rocio; Alberti Amador, Esteban; Diaz Armesto, Ivan and others

    2011-01-01

    Huntington's disease (HD) is a degenerative dysfunction of hereditary origin. Up to date there is not, an effective treatment to the disease which having lapsed 15 or 20 years advances inexorably, in a slow form, toward the total inability or death. This paper reviews the clinical and morphological characteristics of Huntington's disease as well as the experimental models more commonly used to study this disease, having as source the articles indexed in Medline data base, published in the last 20 years. Advantages and disadvantages of all experimental models to reproduce the disease as well as the perspectives to therapeutic assay have been also considered. the consent of outline reported about the toxic models, those induced by neurotoxins such as quinolinic acid, appears to be the most appropriate to reproduce the neuropathologic characteristic of the disease, an genetic models contributing with more evidence to the knowledge of the disease etiology. Numerous treatments ameliorate clinical manifestations, but none of them has been able to stop or diminish the affectations derived from neuronal loss. At present time it is possible to reproduce, at least partially, the characteristics of the disease in experimentation animals that allow therapy evaluation in HD. from the treatment view point, the more promissory seems to be transplantation of no neuronal cells, taking into account ethical issues and factibility. On the other hand the new technology of interference RNA emerges as a potential therapeutic tool for treatment in HD, and to respond basic questions on the development of the disease.

  11. Parkinson's Disease Videos

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  12. 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: ...

  13. Parkinson's Disease Videos

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  14. 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 ...

  15. Perceptions of genetic discrimination among people at risk for Huntington?s disease: a cross sectional survey

    OpenAIRE

    Bombard, Yvonne; Veenstra, Gerry; Friedman, Jan M; Creighton, Susan; Currie, Lauren; Paulsen, Jane S; Bottorff, Joan L; Hayden, Michael R

    2009-01-01

    Objective To assess the nature and prevalence of genetic discrimination experienced by people at risk for Huntington?s disease who had undergone genetic testing or remained untested. Design Cross sectional, self reported survey. Setting Seven genetics and movement disorders clinics servicing rural and urban communities in Canada. Participants 233 genetically tested and untested asymptomatic people at risk for Huntington?s disease (response rate 80%): 167 underwent testing (83 had the Huntingt...

  16. Motor cortex synchronization influences the rhythm of motor performance in premanifest huntington's disease.

    Science.gov (United States)

    Casula, Elias P; Mayer, Isabella M S; Desikan, Mahalekshmi; Tabrizi, Sarah J; Rothwell, John C; Orth, Michael

    2018-03-01

    In Huntington's disease there is evidence of structural damage in the motor system, but it is still unclear how to link this to the behavioral disorder of movement. One feature of choreic movement is variable timing and coordination between sequences of actions. We postulate this results from desynchronization of neural activity in cortical motor areas. The objective of this study was to explore the ability to synchronize activity in a motor network using transcranial magnetic stimulation and to relate this to timing of motor performance. We examined synchronization in oscillatory activity of cortical motor areas in response to an external input produced by a pulse of transcranial magnetic stimulation. We combined this with EEG to compare the response of 16 presymptomatic Huntington's disease participants with 16 age-matched healthy volunteers to test whether the strength of synchronization relates to the variability of motor performance at the following 2 tasks: a grip force task and a speeded-tapping task. Phase synchronization in response to M1 stimulation was lower in Huntington's disease than healthy volunteers (P synchronization (r = -0.356; P synchronization and desynchronization could be a physiological basis for some key clinical features of Huntington's disease. © 2018 International Parkinson and Movement Disorder Society. © 2018 International Parkinson and Movement Disorder Society.

  17. 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 ...

  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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  5. Parkinson's Disease Videos

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  11. 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

  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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    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, ...

  15. 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 ...

  16. Identification of genetic variants associated with Huntington's disease progression

    DEFF Research Database (Denmark)

    Hensman Moss, Davina J; Pardiñas, Antonio F; Langbehn, Douglas

    2017-01-01

    indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008-11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers...... in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression......BACKGROUND: Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate...

  17. What is HD - Huntington's Disease?

    Science.gov (United States)

    ... Spotlight: Dr. Rocio Gomez-Pastor Advocacy Huntington’s Disease Parity Act Affordable Care Act Social Security Administration Research ( ... affected gene is 50%. Inheritance is independent of gender. Genetic Testing & Family Planning People at-risk for ...

  18. Stages of Huntington's Disease (HD)

    Science.gov (United States)

    ... Spotlight: Dr. Rocio Gomez-Pastor Advocacy Huntington’s Disease Parity Act Affordable Care Act Social Security Administration Research ( ... affected gene is 50%. Inheritance is independent of gender. Genetic Testing & Family Planning People at-risk for ...

  19. Contribution of Neuroepigenetics to Huntington's Disease.

    Science.gov (United States)

    Francelle, Laetitia; Lotz, Caroline; Outeiro, Tiago; Brouillet, Emmanuel; Merienne, Karine

    2017-01-01

    Unbalanced epigenetic regulation is thought to contribute to the progression of several neurodegenerative diseases, including Huntington's disease (HD), a genetic disorder considered as a paradigm of epigenetic dysregulation. In this review, we attempt to address open questions regarding the role of epigenetic changes in HD, in the light of recent advances in neuroepigenetics. We particularly discuss studies using genome-wide scale approaches that provide insights into the relationship between epigenetic regulations, gene expression and neuronal activity in normal and diseased neurons, including HD neurons. We propose that cell-type specific techniques and 3D-based methods will advance knowledge of epigenome in the context of brain region vulnerability in neurodegenerative diseases. A better understanding of the mechanisms underlying epigenetic changes and of their consequences in neurodegenerative diseases is required to design therapeutic strategies more effective than current strategies based on histone deacetylase (HDAC) inhibitors. Researches in HD may play a driving role in this process.

  20. 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 ... Mind Guide to Parkinson's Disease Guide to Deep Brain Stimulation Sleep: A Mind Guide to Parkinson’s Disease ...

  1. Parkinson's Disease Videos

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    Full Text Available ... Progression of the Disease? OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis What Are Some Strategies ... to Know? Why Is Comprehensive Care or Team Approach Important? 2013 PSA Featuring Katie Couric What Are ...

  2. Parkinson's Disease Videos

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    Full Text Available ... Progression of the Disease? OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis What Are Some Strategies for Problems with Urination? CareMAP: Changes Around the ...

  3. Parkinson's Disease Videos

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

  4. 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 ...

  5. Parkinson's Disease Videos

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    Full Text Available ... this disease. Learn more In your area About Shop A A ... Webinars: Nursing Solutions: Improving Caregiver Strain through Science and Model Interventions Expert Briefings: Parkinson's Disease Psychosis: ...

  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 ... Progression of the Disease? OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis What Are Some Strategies ...

  7. Parkinson's Disease Videos

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    Full Text Available ... for PD Patients? Are There Any Ways to Control the Rate of Progression of the Disease? OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis What Are Some Strategies ...

  8. Parkinson's Disease Videos

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    Full Text Available ... Sexual Dysfunction? Attachment: consultation.jpg What Is the Relationship Between Depression and Parkinson's Disease? OHSU - Therapeutic Approaches for PD: Depression, Anxiety & Psychosis Parkinson’s Disease Psychosis: A Caregiver’s Story CareMAP: ...

  9. High Protein Diet and Huntington's Disease.

    Directory of Open Access Journals (Sweden)

    Chiung-Mei Chen

    Full Text Available Huntington's disease (HD is a neurodegenerative disorder caused by the huntingtin (HTT gene with expanded CAG repeats. In addition to the apparent brain abnormalities, impairments also occur in peripheral tissues. We previously reported that mutant Huntingtin (mHTT exists in the liver and causes urea cycle deficiency. A low protein diet (17% restores urea cycle activity and ameliorates symptoms in HD model mice. It remains unknown whether the dietary protein content should be monitored closely in HD patients because the normal protein consumption is lower in humans (~15% of total calories than in mice (~22%. We assessed whether dietary protein content affects the urea cycle in HD patients. Thirty HD patients were hospitalized and received a standard protein diet (13.7% protein for 5 days, followed by a high protein diet (HPD, 26.3% protein for another 5 days. Urea cycle deficiency was monitored by the blood levels of citrulline and ammonia. HD progression was determined by the Unified Huntington's Disease Rating Scale (UHDRS. The HPD increased blood citrulline concentration from 15.19 μmol/l to 16.30 μmol/l (p = 0.0378 in HD patients but did not change blood ammonia concentration. A 2-year pilot study of 14 HD patients found no significant correlation between blood citrulline concentration and HD progression. Our results indicated a short period of the HPD did not markedly compromise urea cycle function. Blood citrulline concentration is not a reliable biomarker of HD progression.

  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 Care CareMAP: Thinking Changes: Part 1 How Is Parkinson's Disease Diagnosed? CareMAP: Challenges and Rewards of Caregiving CareMAP: ...

  11. Parkinson's Disease Videos

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    Full Text Available ... and Falls in Parkinson's Disease Expert Briefings: Coping Skills for Parkinson's Care Partners Expert Briefings: Understanding the ... How Does Depression Affect the Patient's Family and Social Network? CareMAP: Where to Find Help CareMAP: Peace ...

  12. Parkinson's Disease Videos

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    Full Text Available ... CareMAP: Thinking Changes: Part 1 CareMAP: Challenges and Rewards of Caregiving What Are the Risks and Benefits ... People with Parkinson's? How Does Parkinson's Disease Affect Memory? CareMAP: La Alimentación y la Deglución, Parte 2 ...

  13. 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: ... and its Treatment: Secrets, Myths and Misconceptions CareMAP: Travel and Transportation: Part 2 CareMAP: Bathroom: Part 1 ¿ ...

  14. Parkinson's Disease Videos

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    Full Text Available ... Nursing Solutions: Improving Parkinson's Care Everywhere CareMAP: La Alimentación y la Deglución, Parte 1 CareMAP: El Baño, ... How Does Parkinson's Disease Affect Memory? CareMAP: La Alimentación y la Deglución, Parte 2 Caregiver Summit 2016: ...

  15. 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? ...

  16. 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: ... a Brother: Donna’s Story OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis What Are Some Strategies ...

  17. 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: ... Therapeutic Approaches for PD: Depression, Anxiety & Psychosis CareMAP: Travel and Transportation: Part 2 CareMAP: Bathroom: Part 1 ¿ ...

  18. 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 ...

  19. 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 ...

  20. 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: ... Sexual Functioning? CareMAP: Balancing Life and Caregiving CareMAP: Travel and Transportation: Part 1 CareMAP: Mealtime and Swallowing: ...

  1. Parkinson's Disease Videos

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    Full Text Available ... People with Parkinson's? How Does Parkinson's Disease Affect Memory? CareMAP: La Alimentación y la Deglución, Parte 2 ... Conference: Lessons Learned How Does the DBS Device Work? CareMAP: Cambios para Realizar en Casa, Parte 1 ...

  2. Parkinson's Disease Videos

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    Full Text Available ... 2 ¿Cómo Se Diagnostica el Parkinson? CareMAP: Prioritizing Health Needs of the Caregiver Is Compulsive Behavior a Side Effect ... Are Some Practical Strategies for Improving the Quality of Sleep? How Does Parkinson's Disease Affect the Urinary System? CareMAP: Plans and Scheduling: Part 1 ¿Cuáles son ...

  3. Parkinson's Disease Videos

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    Full Text Available ... Part 2 Young Onset Parkinson Conference: Lessons Learned What Are the Causes of Parkinson's Disease? Are There Disorders That Have Similar Symptoms? How Does the DBS Device Work? How Does Depression Affect the Patient's Family and Social Network? CareMAP: ...

  4. 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: ...

  5. Parkinson's Disease Videos

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    Full Text Available ... People with Parkinson's? How Does Parkinson's Disease Affect Memory? CareMAP: La Alimentación y la Deglución, Parte 2 ... and Benefits of DBS Surgery? CareMAP: Managing Caregiver Stress CareMAP: End-of-Life Care Natalie Diaz, MD, ...

  6. 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, ...

  7. 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 ...

  8. 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

  9. Clinical and genetic data of Huntington disease in Moroccan patients

    African Journals Online (AJOL)

    Background: Huntington's disease (HD) occurs worldwide with prevalence varying from 0.1 to 10 /100,000 depending of the ethnic origin. Since no data is available in the Maghreb population, the aim of this study is to describe clinical and genetic characteristics of Huntington patients of Moroccan origin. Methods: Clinical ...

  10. Magnetic biomineralisation in Huntington's disease transgenic mice

    International Nuclear Information System (INIS)

    Beyhum, W; Hautot, D; Dobson, J; Pankhurst, Q A

    2005-01-01

    The concentration levels of biogenic magnetite nanoparticles in transgenic R6/2 Huntington's disease (HD) mice have been investigated, using seven control and seven HD mice each from an 8 week-old litter and from a 12 week-old litter. Hysteresis and isothermal remnant magnetisation data were collected on a SQUID magnetometer, and analysed using a model comprising dia/paramagnetic, ferrimagnetic and superparamagnetic contributions, to extract the magnetite and ferritin concentrations present. It was found that magnetite was present in both superparamagnetic and blocked states. A larger spread and higher concentration of magnetite levels was found in the diseased mice for both the 8 week-old and 12 week-old batches, compared to the controls

  11. 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 ...

  12. 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 ...

  13. 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 ...

  14. 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 ...

  15. 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.

  16. Parkinson's Disease Videos

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    Full Text Available ... About Cognitive Impairment? How Do I Manage Non-Motor Problems Such as Hypersexuality? Are There Any Interactions With Non-Parkinson's Disease Medications? What to Expect Emotionally What are some ...

  17. 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 ...

  18. 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 ...

  19. 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 ...

  20. 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 ...

  1. 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: ...

  2. 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 ...

  3. 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 ...

  4. 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 ...

  5. 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 - ...

  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 ... What Is the Helpline? OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis How Does Speech Therapy ...

  7. 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 ...

  8. 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 ...

  9. 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 ...

  10. 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 ...

  11. 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 ...

  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 What Are Some Strategies ...

  13. 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 ...

  14. 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 ...

  15. 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 ...

  16. 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: ...

  17. 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 ...

  18. 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 ...

  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 ... la Deglución, Parte 2 OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis Caregiver Summit 2016: The ...

  20. 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...

  1. Destination and source memory in Huntington's disease.

    Science.gov (United States)

    El Haj, Mohamad; Caillaud, Marie; Verny, Christophe; Fasotti, Luciano; Allain, Philippe

    2016-03-01

    Destination memory refers to the recall of the destination of previously relayed information, and source memory refers to the recollection of the origin of received information. We compared both memory systems in Huntington's disease (HD) participants. For this, HD participants and healthy adults had to put 12 items in a black or a white box (destination task), and to extract another 12 items from a blue or a red box (source task). Afterwards, they had to decide in which box each item had previously been deposited (destination memory), and from which box each item had previously been extracted (source memory). HD participants showed poorer source as well as destination recall performance than healthy adults in the proposed tasks. Correlation analysis showed that destination recall was significantly correlated with episodic recall in HD participants. Destination memory impairment in HD participants seems to be considerably influenced by their episodic memory performance. © 2014 The British Psychological Society.

  2. Américo Negrette and Huntington's disease

    Directory of Open Access Journals (Sweden)

    Mariana Moscovich

    2011-08-01

    Full Text Available The authors present a historical review of the seminal clinical contribution of Professor Américo Negrette, a Venezuelan neurologist, to the evolution of scientific knowledge about Huntington's disease.

  3. Unravelling and Exploiting Astrocyte Dysfunction in Huntington's Disease

    DEFF Research Database (Denmark)

    Khakh, Baljit S.; Beaumont, Vahri; Cachope, Roger

    2017-01-01

    Astrocytes are abundant within mature neural circuits and are involved in brain disorders. Here, we summarize our current understanding of astrocytes and Huntington's disease (HD), with a focus on correlative and causative dysfunctions of ion homeostasis, calcium signaling, and neurotransmitter...

  4. 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)....

  5. 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.

  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. Bradykinesia in Huntington's disease. A prospective, follow-up study.

    Science.gov (United States)

    García Ruiz, Pedro J; Hernández, Jaime; Cantarero, Susana; Bartolomé, Manuel; Sánchez Bernardos, Vicenta; García de Yébenez, Justo

    2002-04-01

    Bradykinesia is a frequent finding in Huntington's disease (HD), but some aspects are presently unknown; including the natural evolution of bradykinesia over time and the correlation between bradykinesia and functional capacity. We studied the motor performance of 20 genetically confirmed patients with HD (age: 40+/-10.8 years; age at onset 33.6+/-11 years; total functional capacity (TFC): 9.57+/-3; UHDRS total motor scale: 31.4+/-13, triplet length (CAG)n: 46.7+/-4 triplets). These patients were studied in baseline conditions and after 18.7+/-6 months of follow-up. In addition, HD patients were compared with 20 age-matched normal controls. Motor study included the four CAPIT timed tests commonly used for Parkinson's disease: pronation-supination (PS), finger dexterity (FD), movement between two points (MTP) and walking test (WT). HD patients were significantly slower than controls in all motor tasks. A significant deterioration occurred over time in three of the four motor tasks (especially FD and WT). A significant correlation between timed tests and TFC score was found (for MTP, r: -0.845; p < 0,0001). In addition a significant correlation between timed tests and the UHDRDS total motor scale was also found (for MTP, r: 0.864; p < 0.0001). In conclusion, simple timed motor tests can detect a deterioration of motor activity over time in HD. Timed tests might be useful to follow the natural evolution of HD and to assess the efficacy of new therapies.

  8. Haplotype-based stratification of Huntington's disease.

    Science.gov (United States)

    Chao, Michael J; Gillis, Tammy; Atwal, Ranjit S; Mysore, Jayalakshmi Srinidhi; Arjomand, Jamshid; Harold, Denise; Holmans, Peter; Jones, Lesley; Orth, Michael; Myers, Richard H; Kwak, Seung; Wheeler, Vanessa C; MacDonald, Marcy E; Gusella, James F; Lee, Jong-Min

    2017-11-01

    Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by expansion of a CAG trinucleotide repeat in HTT, resulting in an extended polyglutamine tract in huntingtin. We and others have previously determined that the HD-causing expansion occurs on multiple different haplotype backbones, reflecting more than one ancestral origin of the same type of mutation. In view of the therapeutic potential of mutant allele-specific gene silencing, we have compared and integrated two major systems of HTT haplotype definition, combining data from 74 sequence variants to identify the most frequent disease-associated and control chromosome backbones and revealing that there is potential for additional resolution of HD haplotypes. We have used the large collection of 4078 heterozygous HD subjects analyzed in our recent genome-wide association study of HD age at onset to estimate the frequency of these haplotypes in European subjects, finding that common genetic variation at HTT can distinguish the normal and CAG-expanded chromosomes for more than 95% of European HD individuals. As a resource for the HD research community, we have also determined the haplotypes present in a series of publicly available HD subject-derived fibroblasts, induced pluripotent cells, and embryonic stem cells in order to facilitate efforts to develop inclusive methods of allele-specific HTT silencing applicable to most HD patients. Our data providing genetic guidance for therapeutic gene-based targeting will significantly contribute to the developments of rational treatments and implementation of precision medicine in HD.

  9. 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.

  10. Parkinson's Disease Videos

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    Full Text Available ... the House: Part 1 What Are the Neuroprotective Benefits of Exercise for PD Patients? Are There Any Ways to Control the Rate of Progression of the Disease? OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis What Are Some Strategies ...

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  12. 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 ...

  13. 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 ...

  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. Contribution of Neuroepigenetics to Huntington?s Disease

    OpenAIRE

    Francelle, Laetitia; Lotz, Caroline; Outeiro, Tiago; Brouillet, Emmanuel; Merienne, Karine

    2017-01-01

    Unbalanced epigenetic regulation is thought to contribute to the progression of several neurodegenerative diseases, including Huntington’s disease (HD), a genetic disorder considered as a paradigm of epigenetic dysregulation. In this review, we attempt to address open questions regarding the role of epigenetic changes in HD, in the light of recent advances in neuroepigenetics. We particularly discuss studies using genome-wide scale approaches that provide insights into the rela...

  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. Disease stage, but not sex, predicts depression and psychological distress in Huntington's disease

    DEFF Research Database (Denmark)

    Dale, Maria; Maltby, John; Shimozaki, Steve

    2016-01-01

    OBJECTIVE: Depression and anxiety significantly affect morbidity in Huntington's disease. Mice. models of Huntington's disease have identified sex differences in mood-like behaviours that vary across disease lifespan, but this interaction has not previously been explored in humans with Huntington......'s disease. However, among certain medical populations, evidence of sex differences in mood across various disease stages has been found, reflecting trends among the general population that women tend to experience anxiety and depression 1.5 to 2 times more than men. The current study examined whether...... disease stage and sex, either separately or as an interaction term, predicted anxiety and depression in Huntington's disease. METHODS: A cross-sectional study of REGISTRY data involving 453 Huntington's disease participants from 12 European countries was undertaken using the Hospital Anxiety...

  19. Palliative Care in Huntington Disease: Personal Reflections and a Review of the Literature

    Directory of Open Access Journals (Sweden)

    Christopher G. Tarolli

    2017-04-01

    Full Text Available Background Huntington disease is a fatal, autosomal dominant, neurodegenerative disorder manifest by the triad of a movement disorder, behavioral disturbances, and dementia. At present, no curative or disease modifying therapies exist for the condition and current treatments are symptomatic. Palliative care is an approach to care that focuses on symptom relief, patient and caregiver support, and end of life care. There is increasing evidence of the benefit of palliative care throughout the course of neurodegenerative conditions including Parkinson disease and amyotrophic lateral sclerosis. However, beyond its application at the end of life, little is known about the role of palliative care in Huntington disease.Methods In this article, we discuss what is known about palliative care in Huntington disease, specifically related to early disease burden, caregiver burnout, advance care planning, and end of life care.Results We provide a review of the current literature and discuss our own care practices.Discussion We conclude by discussing questions that remain unanswered and positing ideas for future work in the field.

  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 ...

  2. Parkinson's Disease Videos

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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 ...

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  5. Parkinson's Disease Videos

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  6. 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 ...

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  8. Parkinson's Disease Videos

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  9. 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 ...

  10. 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: ...

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  12. 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.

  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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    Full Text Available ... area About Shop A A You are here Home PD Library Search library Topic Type Expert Briefings: ... How Is Parkinson's Disease Diagnosed? CareMAP: Activities at Home CareMAP: Getting Dressed CareMAP: Caring for Someone with ...

  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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    Full Text Available ... CareMAP: Dealing with Dementia OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis CareMAP: Cambios en el ... to Know? Why Is Comprehensive Care or Team Approach Important? What Is the Relationship Between Depression and ...

  3. Parkinson's Disease Videos

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  4. Parkinson's Disease Videos

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    Full Text Available ... Care Partners CareMAP: Preparing Paid Caregivers How Does Speech Therapy Help Parkinson's Patients? What Are Some Tips ... Parkinson's Mid-Stride: A Treatment Guide to Parkinson's Speech and Swallowing Psychosis: A Mind Guide to Parkinson's ...

  5. Parkinson's Disease Videos

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    Full Text Available ... Moving Day Walker Support a Parkinson's Champion Bequests & Planned Giving Shop More Ways to Give Ways to ... Late Stage Parkinson's Expert Briefings: Impulsive and Compulsive Behaviors in Parkinson's Expert Briefings: Complementary Approaches to Parkinson's ...

  6. Parkinson's Disease Videos

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    Full Text Available ... a Fundraiser Understanding Parkinson's What Is Parkinson's? Causes & Statistics Early Signs Movement Symptoms Non-Movement Symptoms Diagnosis ... Solutions: Innovations in PD Nurse Education CareMAP: Managing Advanced Parkinson's Website Nurse Webinars: Nursing Solutions: Improving Parkinson's ...

  7. Parkinson's Disease: The Newest Advances

    Science.gov (United States)

    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, ...

  8. Changes in mental state and behaviour in Huntington's disease.

    Science.gov (United States)

    Eddy, Clare M; Parkinson, Ellice G; Rickards, Hugh E

    2016-11-01

    Changes in mental state and behaviour have been acknowledged in Huntington's disease since the original monograph in 1872 provided evidence of disinhibition and impaired social cognition. Behavioural problems can manifest before obvious motor symptoms and are frequently the most disabling part of the illness. Although pharmacological treatments are used routinely for psychiatric difficulties in Huntington's disease, the scientific evidence base for their use is somewhat sparse. Moreover, effective treatments for apathy and cognitive decline do not currently exist. Understanding the social cognitive impairments associated with Huntington's disease can assist management, but related therapeutic interventions are needed. Future research should aim to design rating scales for behaviour and mental state in Huntington's disease that can detect change in clinical trials. Generally, communication and understanding of behaviour and mental state in Huntington's would be enhanced by a clear conceptual framework that unifies ideas around movement, cognition, emotion, behaviour, and mental state, reflecting both the experience of the patient and their underlying neuropathology. Copyright © 2016 Elsevier Ltd. All rights reserved.

  9. Embodied emotion impairment in Huntington's Disease.

    Science.gov (United States)

    Trinkler, Iris; Devignevielle, Sévérine; Achaibou, Amal; Ligneul, Romain V; Brugières, Pierre; Cleret de Langavant, Laurent; De Gelder, Beatrice; Scahill, Rachael; Schwartz, Sophie; Bachoud-Lévi, Anne-Catherine

    2017-07-01

    Theories of embodied cognition suggest that perceiving an emotion involves somatovisceral and motoric re-experiencing. Here we suggest taking such an embodied stance when looking at emotion processing deficits in patients with Huntington's Disease (HD), a neurodegenerative motor disorder. The literature on these patients' emotion recognition deficit has recently been enriched by some reports of impaired emotion expression. The goal of the study was to find out if expression deficits might be linked to a more motoric level of impairment. We used electromyography (EMG) to compare voluntary emotion expression from words to emotion imitation from static face images, and spontaneous emotion mimicry in 28 HD patients and 24 matched controls. For the latter two imitation conditions, an underlying emotion understanding is not imperative (even though performance might be helped by it). EMG measures were compared to emotion recognition and to the capacity to identify and describe emotions using alexithymia questionnaires. Alexithymia questionnaires tap into the more somato-visceral or interoceptive aspects of emotion perception. Furthermore, we correlated patients' expression and recognition scores to cerebral grey matter volume using voxel-based morphometry (VBM). EMG results replicated impaired voluntary emotion expression in HD. Critically, voluntary imitation and spontaneous mimicry were equally impaired and correlated with impaired recognition. By contrast, alexithymia scores were normal, suggesting that emotion representations on the level of internal experience might be spared. Recognition correlated with brain volume in the caudate as well as in areas previously associated with shared action representations, namely somatosensory, posterior parietal, posterior superior temporal sulcus (pSTS) and subcentral sulcus. Together, these findings indicate that in these patients emotion deficits might be tied to the "motoric level" of emotion expression. Such a double

  10. 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.

  11. 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 ...

  12. 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 ...

  13. 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 ...

  14. 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 ...

  15. 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: ...

  16. Parkinson's Disease Videos

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  17. 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 ...

  18. 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 ... Expert Briefings: Driving and Parkinson's: Balancing Independence and Safety Expert Briefings: Caring for a Person with Late ...

  19. 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 ...

  20. 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 ...

  1. 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 ...

  2. 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 ...

  3. 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 ...

  4. 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...

  5. PSYCHIATRIC ASPECTS OF HUNTINGTON DISEASE – CASE REPORTS

    Directory of Open Access Journals (Sweden)

    Mirela Batta

    2004-04-01

    Full Text Available Background. Huntington disease occurrs rarely, it can be encountered not only by neurologists and psychiatrists but also by other medical practitioners. Its characteristic features are involuntary movements, cognitive disorders and gradual development of dementia. Diagnosis is given on the basis of these clinical features, positive familial anamnesis, with the laboratory exclusion of other neuropsychiatric diseases and with the help of neuroimaging methods (in particular NMR. The disease can be only confirmed by means of genetic analysis.Patients and methods. In this article, four cases of patients with Huntington disease and diverse psychiatric disorders that were hospitalised at the psychiatric department of the Maribor General Hospital between October 2002 and March 2003 are described. All the patients fulfilled the valid criteria for the diagnosis of Huntington disease. However, they differed according to their accompanying psychiatric psychopathology, age and social problems.Conclusions. The purpose of this article is to draw attention to different psychiatric symptoms and clinical manifestations of Huntington disease that are often misleading in the diagnostic process. In addition, exigency of early diagnostics, guidelines for referrals to genetic testing and psychiatric monitoring of these patients are emphasised.

  6. Major Superficial White Matter Abnormalities in Huntington's Disease

    Science.gov (United States)

    Phillips, Owen R.; Joshi, Shantanu H.; Squitieri, Ferdinando; Sanchez-Castaneda, Cristina; Narr, Katherine; Shattuck, David W.; Caltagirone, Carlo; Sabatini, Umberto; Di Paola, Margherita

    2016-01-01

    Background: The late myelinating superficial white matter at the juncture of the cortical gray and white matter comprising the intracortical myelin and short-range association fibers has not received attention in Huntington's disease. It is an area of the brain that is late myelinating and is sensitive to both normal aging and neurodegenerative disease effects. Therefore, it may be sensitive to Huntington's disease processes. Methods: Structural MRI data from 25 Pre-symptomatic subjects, 24 Huntington's disease patients and 49 healthy controls was run through a cortical pattern-matching program. The surface corresponding to the white matter directly below the cortical gray matter was then extracted. Individual subject's Diffusion Tensor Imaging (DTI) data was aligned to their structural MRI data. Diffusivity values along the white matter surface were then sampled at each vertex point. DTI measures with high spatial resolution across the superficial white matter surface were then analyzed with the General Linear Model to test for the effects of disease. Results: There was an overall increase in the axial and radial diffusivity across much of the superficial white matter (p < 0.001) in Pre-symptomatic subjects compared to controls. In Huntington's disease patients increased diffusivity covered essentially the whole brain (p < 0.001). Changes are correlated with genotype (CAG repeat number) and disease burden (p < 0.001). Conclusions: This study showed broad abnormalities in superficial white matter even before symptoms are present in Huntington's disease. Since, the superficial white matter has a unique microstructure and function these abnormalities suggest it plays an important role in the disease. PMID:27242403

  7. The emotional experiences of family carers in Huntington disease.

    Science.gov (United States)

    Williams, Janet K; Skirton, Heather; Paulsen, Jane S; Tripp-Reimer, Toni; Jarmon, Lori; McGonigal Kenney, Meghan; Birrer, Emily; Hennig, Bonnie L; Honeyford, Joann

    2009-04-01

    This paper is a report of a study conducted to examine the emotional experience of caregiving by family carers of people with Huntington disease and to describe strategies they used to deal with that experience. Huntington disease, commonly diagnosed in young to middle adulthood, is an inherited single gene disorder involving loss of cognitive, motor and neuropsychiatric function. Many family members become caregivers as well as continuing as parents and wage earners. The emotional aspects of caregiving contribute to mental health risks for family members. Focus groups were conducted with 42 adult carers of people with Huntington disease in four United States and two Canadian Huntington disease centers between 2001 and 2005. Data were analyzed through descriptive coding and thematic analysis. All participants reported multiple aspects of emotional distress. Being a carer was described as experiencing disintegration of one's life. Carers attempted to cope by seeking comfort from selected family members, anticipating the time when the care recipient had died and/or using prescription medications. Spousal carers were distressed by the loss of their relationship with their spouse and dealt with this by no longer regarding the person as an intimate partner. Carers were concerned about the disease risk for children in their families and hoped for a cure. Emotional distress can compromise the well-being of family carers, who attempt to maintain multiple roles. Nurses should monitor carer mental health, identify sources of emotional distress and support effective strategies used by carers to mediate distress.

  8. 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

  9. Progressive Impairment of Lactate-based Gluconeogenesis in the Huntington?s Disease Mouse Model R6/2

    OpenAIRE

    Nielsen, Signe Marie Borch; Hasholt, Lis; N?rrem?lle, Anne; Josefsen, Knud

    2015-01-01

    Huntington?s disease (HD) is a neurodegenerative illness, where selective neuronal loss in the brain caused by expression of mutant huntingtin protein leads to motor dysfunction and cognitive decline in addition to peripheral metabolic changes. In this study we confirm our previous observation of impairment of lactate-based hepatic gluconeogenesis in the transgenic HD mouse model R6/2 and determine that the defect manifests very early and progresses in severity with disease development, indic...

  10. Ethical issues and Huntington's disease | Kromberg | South African ...

    African Journals Online (AJOL)

    The practice of genetic counselling gives rise to many ethical dilemmas, and counsellors need to be familiar with the principles of biomedical ethics. The primary principles include respect for autonomy, beneficence, non-maleficence and justice. A case of identical twins at 50% risk for Huntington's disease, in which only one ...

  11. Semantic, phonologic, and verb fluency in Huntington's disease

    Directory of Open Access Journals (Sweden)

    Mariana Jardim Azambuja

    Full Text Available Abstract Verbal fluency tasks have been identified as important indicators of executive functioning impairment in patients with frontal lobe dysfunction. Although the usual evaluation of this ability considers phonologic and semantic criteria, there is some evidence that fluency of verbs would be more sensitive in disclosing frontostriatal physiopathology since frontal regions primarily mediate retrieval of verbs. Huntington's disease usually affects these circuitries. Objective: To compare three types of verbal fluency task in the assessment of frontal-striatal dysfunction in HD subjects. Methods: We studied 26 Huntington's disease subjects, divided into two subgroups: mild (11 and moderate (15 along with 26 normal volunteers matched for age, gender and schooling, for three types of verbal fluency: phonologic fluency (F-A-S, semantic fluency and fluency of verbs. Results: Huntington's disease subjects showed a significant reduction in the number of words correctly generated in the three tasks when compared to the normal group. Both controls and Huntington's disease subjects showed a similar pattern of decreasing task performance with the greatest number of words being generated by semantic elicitation followed by verbs and lastly phonologic criteria. We did not find greater production of verbs compared with F-A-S and semantic conditions. Moreover, the fluency of verbs distinguished only the moderate group from controls. Conclusion: Our results indicated that phonologic and semantic fluency can be used to evaluate executive functioning, proving more sensitive than verb fluency. However, it is important to point out that the diverse presentations of Huntington's disease means that an extended sample is necessary for more consistent analysis of this issue.

  12. 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

  13. 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

  14. 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

  15. 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...

  16. 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.

  17. 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.

  18. Parkinson's Disease Videos

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  11. Parkinson's Disease Videos

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  12. Family caregivers' views on coordination of care in Huntington's disease

    DEFF Research Database (Denmark)

    Røthing, Merete; Malterud, Kirsti; Frich, Jan C

    2015-01-01

    BACKGROUND: Collaboration between family caregivers and health professionals in specialised hospitals or community-based primary healthcare systems can be challenging. During the course of severe chronic disease, several health professionals might be involved at a given time, and the patient......'s illness may be unpredictable or not well understood by some of those involved in the treatment and care. AIM: The aim of this study was to explore the experiences and expectations of family caregivers for persons with Huntington's disease concerning collaboration with healthcare professionals. METHODS......: To shed light on collaboration from the perspectives of family caregivers, we conducted an explorative, qualitative interview study with 15 adult participants experienced from caring for family members in all stages of Huntington's disease. Data were analysed with systematic text condensation, a cross...

  13. Therapeutic strategies for circadian rhythm and sleep disturbances in Huntington disease.

    Science.gov (United States)

    van Wamelen, Daniel J; Roos, Raymund Ac; Aziz, Nasir A

    2015-12-01

    Aside from the well-known motor, cognitive and psychiatric signs and symptoms, Huntington disease (HD) is also frequently complicated by circadian rhythm and sleep disturbances. Despite the observation that these disturbances often precede motor onset and have a high prevalence, no studies are available in HD patients which assess potential treatments. In this review, we will briefly outline the nature of circadian rhythm and sleep disturbances in HD and subsequently focus on potential treatments based on findings in other neurodegenerative diseases with similarities to HD, such as Parkinson and Alzheimer disease. The most promising treatment options to date for circadian rhythm and sleep disruption in HD include melatonin (agonists) and bright light therapy, although further corroboration in clinical trials is warranted.

  14. Psychodynamic theory and counseling in predictive testing for Huntington's disease.

    Science.gov (United States)

    Tassicker, Roslyn J

    2005-04-01

    This paper revisits psychodynamic theory, which can be applied in predictive testing counseling for Huntington's Disease (HD). Psychodynamic theory has developed from the work of Freud and places importance on early parent-child experiences. The nature of these relationships, or attachments are reflected in adult expectations and relationships. Two significant concepts, identification and fear of abandonment, have been developed and expounded by the psychodynamic theorist, Melanie Klein. The processes of identification and fear of abandonment can become evident in predictive testing counseling and are colored by the client's experience of growing up with a parent affected by Huntington's Disease. In reflecting on family-of-origin experiences, clients can also express implied expectations of the future, and future relationships. Case examples are given to illustrate the dynamic processes of identification and fear of abandonment which may present in the clinical setting. Counselor recognition of these processes can illuminate and inform counseling practice.

  15. Caregiver roles in families affected by Huntington's disease

    DEFF Research Database (Denmark)

    Røthing, Merete; Malterud, Kirsti; Frich, Jan C

    2013-01-01

    AIM: The objective of this study was to explore family caregivers' experiences with the impact of Huntington's disease (HD) on the family structure and roles in the family. METHODOLOGY: We interviewed 15 family caregivers in families affected by HD, based on a semi-structured interview guide...... for impairments by taking on adult responsibilities, and in some families, a child had the role as main caregiver. The increasing need for care could cause conflicts between the role as family member and family caregiver. The burden of care within the family could fragment and isolate the family. CONCLUSIONS......: Huntington's disease has a major impact on family systems. Caregiver roles are shaped by impairments in the affected family member and corresponding dynamic adoption and change in roles within the family. Making assessments of the family structure and roles, professionals may understand more about how...

  16. Striatal grafts in a rat model of Huntington's disease

    DEFF Research Database (Denmark)

    Guzman, R; Meyer, M; Lövblad, K O

    1999-01-01

    Survival and integration into the host brain of grafted tissue are crucial factors in neurotransplantation approaches. The present study explored the feasibility of using a clinical MR scanner to study striatal graft development in a rat model of Huntington's disease. Rat fetal lateral ganglionic...... time-points graft location could not be further verified. Measures for graft size and ventricle size obtained from MR images highly correlated with measures obtained from histologically processed sections (R = 0.8, P fetal rat lateral ganglionic...

  17. Challenges of Huntington's disease and quest for therapeutic biomarkers

    Czech Academy of Sciences Publication Activity Database

    Kotrčová, Eva; Jarkovská, Karla; Valeková, Ivona; Žižková, Martina; Motlík, Jan; Gadher, S. J.; Kovářová, Hana

    2015-01-01

    Roč. 9, 1-2 (2015), s. 147-158 ISSN 1862-8346 R&D Projects: GA MŠk ED2.1.00/03.0124; GA TA ČR(CZ) TA01011466 Institutional support: RVO:67985904 Keywords : HD biomarkers * Huntington´s disease * Huntingtin neurotoxicity * Huntingtin pathogenesis Subject RIV: FH - Neurology Impact factor: 2.959, year: 2015

  18. 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.

  19. Parkinson's Disease Videos

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    Full Text Available ... have better quality of life. Learn More Research Research We Fund Parkinson's Outcomes Project Grant Opportunities Science News & Progress Patient Engagement Research Our research has ...

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    Full Text Available ... Medical Planning Tips for Care Partners Nurse Webinars: Nursing Solutions: Innovations in PD Nurse Education CareMAP: Managing Advanced Parkinson's Website Nurse Webinars: Nursing ...

  1. Parkinson's Disease Videos

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    Full Text Available ... Nurse Webinars: Nursing Solutions: Improving Caregiver Strain through Science and Model Interventions Expert Briefings: Parkinson's ... Movimientos y Caídas, Parte 2 Caregiver ...

  2. The Huntington disease locus is most likely within 325 kilobases of the chromosome 4p telomere

    International Nuclear Information System (INIS)

    Doggett, N.A.; Cheng, J.F.; Smith, C.L.; Cantor, C.R.

    1989-01-01

    The genetic defect responsible for Huntington disease was originally localized near the tip of the short arm of chromosome 4 by genetic linkage to the locus D4S10. Several markers closer to Huntington disease have since been isolated, but these all appear to be proximal to the defect. A physical map that extends from the most distal of these loci, D4S90, to the telomere of chromosome 4 was constructed. This map identifies at least two CpG islands as markers for Huntington disease candidate genes and places the most likely location of the Huntington disease defect remarkably close (within 325 kilobases) to the telomere

  3. 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

  4. 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 Briefings: ... Is Comprehensive Care or Team Approach Important? OHSU - Therapeutic Approaches for PD: Depression, Anxiety & ... Bathroom: Part 1 CareMAP: Cambios en el ...

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    Full Text Available ... About Depression? CareMAP: Movimientos y Caídas, Parte 1 ¿Cuáles Son las Causas del Parkinson? ¿Existen Otros Trastornos que Tienen ... or Delusions? CareMAP: Plans and Scheduling: Part 1 ¿Cuáles son las diferentes formas y etapas del Parkinson? ¿Cómo es ...

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    Full Text Available ... Caregivers Need to Know? CareMAP: Ayudando a una Persona con la Enfermedad de Parkinson Why Is Comprehensive Care or Team Approach ... el Sueño, Parte 2 Panel de Expertos: Sesión de Preguntas y Respuestas con todos los ... Se Trata el Parkinson? CareMAP: Cambios para Realizar en Casa, ...

  8. Parkinson's Disease Videos

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    Full Text Available ... 1-800-4PD-INFO (473-4636) helpline@parkinson.org Search Our Site General Gift Tribute Gift Moving ... Suite 1509, New York, NY 10018 contact@parkinson.org Press Room Ask a Doctor Sign In Privacy & ...

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    Full Text Available ... in Care: Real Stories CareMAP: Medications and General Health Part 1 What Is Patient-Centered Care? Dealing ... Parkinson Conference: Lessons Learned CareMAP: Medications and General Health Part 2 ¿Cómo Se Diagnostica el Parkinson? CareMAP: ...

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    Full Text Available ... Education CareMAP: Managing Advanced Parkinson's Website Nurse Webinars: Nursing Solutions: Improving Parkinson's Care Everywhere CareMAP: Medicamentos y la Salud en General, Parte 1 Expert Briefings: Apathy or Depression: Which One Is It? CareMAP: El Descanso y ...

  11. Parkinson's Disease Videos

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    Full Text Available ... Research We Fund Parkinson's Outcomes Project Grant Opportunities Science News & Progress Patient Engagement Research Our research has led to breakthroughs in treatment and improved care that bring hope to the entire Parkinson's community. Learn more Get Involved Moving ...

  12. 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 ...

  13. 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 ...

  14. 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- ...

  15. 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.

  16. Radiosensitivity in Huntington's disease: implications for pathogenesis and presymptomatic diagnosis

    International Nuclear Information System (INIS)

    Moshell, A.N.; Tarone, R.E.; Barrett, S.F.; Robbins, J.H.

    1980-01-01

    Huntington's disease (HD) is a dominantly inherited fatal disorder characterised by premature death of nerve cells. Cultured lymphocyte lines from four patients with HD were abnormally sensitive to the lethal effects of X rays, as were lines from two of five subjects at risk for HD. The hypersensitivity is specific for ionising radiation, since HD lines had normal survival after exposure to ultraviolet radiation. The hypersensitivity, which may reflect an inherited defect in DNA repair, provides the basis for a presymptomatic diagnostic test for the disease. (author)

  17. An improved assay for the determination of Huntington`s disease allele size

    Energy Technology Data Exchange (ETDEWEB)

    Reeves, C.; Klinger, K.; Miller, G. [Intergrated Genetics, Framingham, MA (United States)

    1994-09-01

    The hallmark of Huntington`s disease (HD) is the expansion of a polymorphic (CAG)n repeat. Several methods have been published describing PCR amplification of this region. Most of these assays require a complex PCR reaction mixture to amplify this GC-rich region. A consistent problem with trinucleotide repeat PCR amplification is the presence of a number of {open_quotes}stutter bands{close_quotes} which may be caused by primer or amplicon slippage during amplification or insufficient polymerase processivity. Most assays for HD arbitrarily select a particular band for diagnostic purposes. Without a clear choice for band selection such an arbitrary selection may result in inconsistent intra- or inter-laboratory findings. We present an improved protocol for the amplification of the HD trinucleotide repeat region. This method simplifies the PCR reaction buffer and results in a set of easily identifiable bands from which to determine allele size. HD alleles were identified by selecting bands of clearly greater signal intensity. Stutter banding was much reduced thus permitting easy identification of the most relevant PCR product. A second set of primers internal to the CCG polymorphism was used in selected samples to confirm allele size. The mechanism of action of N,N,N trimethylglycine in the PCR reaction is not clear. It may be possible that the minimal isostabilizing effect of N,N,N trimethylglycine at 2.5 M is significant enough to affect primer specificity. The use of N,N,N trimethylglycine in the PCR reaction facilitated identification of HD alleles and may be appropriate for use in other assays of this type.

  18. 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.

  19. 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.

  20. 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.

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  9. 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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  13. Parkinson's Disease Videos

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  14. 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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  10. 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

  11. Apolipoprotein E and presenilin-1 genotypes in Huntington's disease.

    Science.gov (United States)

    Panas, M; Avramopoulos, D; Karadima, G; Petersen, M B; Vassilopoulos, D

    1999-07-01

    Huntington's disease (HD) is an autosomal dominant degenerative disease of the central nervous system manifested by involuntary movements (chorea), psychiatric manifestations, and cognitive impairment with a variable age at onset. This variability is mainly attributed to genetic factors. The so-called aging genes [e.g., those for apolipoprotein E (APOE) and presenilin-1 (PS-1) have been implicated in determining the age at onset of Alzheimer's disease, a disease sharing common clinical features with HD. In 60 unrelated patients suffering from HD (mean age at onset 40.1 years, range 20-65) we determined number of CAG repeats and the distribution of the APOE alleles (epsilon2, epsilon3, epsilon4) and PS-1 alleles. The results showed that: (a) The age at onset was higher in the group of patients with the epsilon4 allele (51.6 vs. 38.0 P<0.002), (b) The correlation between the age at onset and the number of CAG repeats was strong in patients with the epsilon3/epsilon3 genotype while it was not detected in patients with epsilon3/epsilon4 genotype. (c) No correlation was found between age at onset and PS-1 alleles. In conclusion, APOE seems to be a significant factor influencing the age at onset of Huntington's disease.

  12. aliving with Huntington´s disease in the Czech Republic

    Czech Academy of Sciences Publication Activity Database

    Baxa, Monika

    2015-01-01

    Roč. 78, Suppl 2 (2015), s. 6-6 ISSN 1210-7859. [Conference on Animal Models for neurodegenerative Diseases /3./. 08.11.2015-10.11.2015, Liblice] Institutional support: RVO:67985904 Keywords : Czech Huntington Association * life with Huntington ´ disease Subject RIV: FH - Neurology

  13. 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

  14. 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...

  15. Motor outcome measures in Huntington disease clinical trials.

    Science.gov (United States)

    Reilmann, Ralf; Schubert, Robin

    2017-01-01

    Deficits in motor function are a hallmark of Huntington disease (HD). The Unified Huntington's Disease Rating Scale Total Motor Score (UHDRS-TMS) is a categoric clinical rating scale assessing multiple domains of motor disability in HD. The UHDRS-TMS or subsets of its items have served as primary or secondary endpoints in numerous clinical trials. In spite of a well-established video-based annual online certification system, intra- and interrater variability, subjective error, and rater-induced placebo effects remain a concern. In addition, the UHDRS-TMS was designed to primarily assess motor symptoms in manifest HD. Recently, advancement of technology resulted in the introduction of the objective Q-Motor (i.e., Quantitative-Motor) assessments in biomarker studies and clinical trials in HD. Q-Motor measures detected motor signs in blinded cross-sectional and longitudinal analyses of manifest, prodromal, and premanifest HD cohorts up to two decades before clinical diagnosis. In a multicenter clinical trial in HD, Q-Motor measures were more sensitive than the UHDRS-TMS and exhibited no placebo effects. Thus, Q-Motor measures are currently explored in several multicenter trials targeting both symptomatic and disease-modifying mechanisms. They may supplement the UHDRS-TMS, increase the sensitivity and reliability in proof-of-concept studies, and open the door for phenotype assessments in clinical trials in prodromal and premanifest HD. Copyright © 2017 Elsevier B.V. All rights reserved.

  16. 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.

  17. Parkinson's Disease Videos

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  18. Parkinson's Disease Videos

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  9. Swallowing endoscopy findings in Huntington's disease: a case report.

    Science.gov (United States)

    Alves, Thaís Coelho; Cola, Paula Cristina; Santos, Rarissa Rúbia Dallaqua Dos; Motonaga, Suely Mayumi; Silva, Roberta Gonçalves da

    2016-01-01

    Huntington's disease (HD) is a degenerative genetic disorder with autosomal-dominant transmission. The triad of symptoms of this disease consists of psychiatric disorders, jerky movements, and dementia. Oropharyngeal dysphagia, which is more evident with disease progression, is also present. Few studies have addressed the swallowing characteristics using objective analysis in this population. The purpose of this research was to describe the swallowing endoscopic findings of the pharyngeal phase in HD. This is a cross-sectional study addressing a clinical case which included two individuals of the same family, male, 32 and 63 years old, designated as individual A and individual B, with progression of the disease for five and 13 years, respectively. Consistent liquid, nectar, and puree were offered during the evaluation. There was presence of posterior oral spillage in liquid and nectar, small amount of pharyngeal residues, and no laryngeal penetration or aspiration in the individuals with HD in this study.

  10. Structural imaging in premanifest and manifest Huntington disease.

    Science.gov (United States)

    Scahill, Rachael I; Andre, Ralph; Tabrizi, Sarah J; Aylward, Elizabeth H

    2017-01-01

    Huntington disease (HD) neuropathology has a devastating effect on brain structure and consequently brain function; neuroimaging provides a means to assess these effects in gene carriers. In this chapter we first outline the unique utility of structural imaging in understanding HD and discuss some of the acquisition and analysis techniques currently available. We review the existing literature to summarize what we know so far about structural brain changes across the spectrum of disease from premanifest through to manifest disease. We then consider how these neuroimaging findings relate to patient function and nonimaging biomarkers, and can be used to predict disease onset. Finally we review the utility of imaging measures for assessment of treatment efficacy in clinical trials. Copyright © 2017 Elsevier B.V. All rights reserved.

  11. 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...

  12. 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.

  13. Huntington's Disease in a Patient Misdiagnosed as Conversion Disorder.

    Science.gov (United States)

    Nogueira, João Machado; Franco, Ana Margarida; Mendes, Susana; Valadas, Anabela; Semedo, Cristina; Jesus, Gustavo

    2018-01-01

    Huntington's disease (HD) is an inherited, progressive, and neurodegenerative neuropsychiatric disorder caused by the expansion of cytosine-adenine-guanine (CAG) trinucleotide in Interested Transcript (IT) 15 gene on chromosome 4. This pathology typically presents in individuals aged between 30 and 50 years and the age of onset is inversely correlated with the length of the CAG repeat expansion. It is characterized by chorea, cognitive deficits, and psychiatric symptoms. Usually the psychiatric disorders precede motor and cognitive impairment, Major Depressive Disorder and anxiety disorders being the most common presentations. We present a clinical case of a 65-year-old woman admitted to our Psychiatric Acute Unit. During the 6 years preceding the admission, the patient had clinical assessments made several times by different specialties that focused only on isolated symptoms, disregarding the syndrome as a whole. In the course of her last admission, the patient was referred to our Neuropsychiatric Team, which made the provisional diagnosis of late-onset Huntington's disease, later confirmed by genetic testing. This clinical vignette highlights the importance of a multidisciplinary approach to atypical clinical presentations and raises awareness for the relevance of investigating carefully motor symptoms in psychiatric patients.

  14. Orphan drugs in development for Huntington's disease: challenges and progress

    Directory of Open Access Journals (Sweden)

    Burgunder JM

    2015-02-01

    advanced strategies to develop novel treatments in Huntington's disease are examined. Keywords: Huntington's disease, symptomatic treatment, disease-modifying therapy

  15. High Protein Diet and Huntington's Disease

    Science.gov (United States)

    Wu, Yih-Ru; Chen, Pei; Tsai, Fuu-Jen; Yang, Chueh-Lien; Tsao, Ya-Tzu; Chang, Wen; Hsieh, I-Shan; Chern, Yijuang; Soong, Bing-Wen

    2015-01-01

    Huntington’s disease (HD) is a neurodegenerative disorder caused by the huntingtin (HTT) gene with expanded CAG repeats. In addition to the apparent brain abnormalities, impairments also occur in peripheral tissues. We previously reported that mutant Huntingtin (mHTT) exists in the liver and causes urea cycle deficiency. A low protein diet (17%) restores urea cycle activity and ameliorates symptoms in HD model mice. It remains unknown whether the dietary protein content should be monitored closely in HD patients because the normal protein consumption is lower in humans (~15% of total calories) than in mice (~22%). We assessed whether dietary protein content affects the urea cycle in HD patients. Thirty HD patients were hospitalized and received a standard protein diet (13.7% protein) for 5 days, followed by a high protein diet (HPD, 26.3% protein) for another 5 days. Urea cycle deficiency was monitored by the blood levels of citrulline and ammonia. HD progression was determined by the Unified Huntington’s Disease Rating Scale (UHDRS). The HPD increased blood citrulline concentration from 15.19 μmol/l to 16.30 μmol/l (p = 0.0378) in HD patients but did not change blood ammonia concentration. A 2-year pilot study of 14 HD patients found no significant correlation between blood citrulline concentration and HD progression. Our results indicated a short period of the HPD did not markedly compromise urea cycle function. Blood citrulline concentration is not a reliable biomarker of HD progression. PMID:25992839

  16. Brain atrophy in Huntington's disease: A CT-scan study

    International Nuclear Information System (INIS)

    Starkstein, S.E.; Folstein, S.E.; Brandt, J.; McDonnell, A.; Folstein, M.

    1989-01-01

    CT-scan measurements of cortical and subcortical atrophy were carried out in 34 patients with Huntington's disease (HD). While a significant correlation was observed between parameters of subcortical atrophy (bicaudate ratio, bifrontal ratio and third ventricular ratio) and duration of the disease, there was no significant correlation between these parameters and age. On the other hand, measurements of cortical atrophy (frontal fissure ratio and cortical sulci ratio) correlated significantly with age but not with duration of the disease. When a group of 24 HD patients were compared on CT-scan measurements with a group of 24 age-matched normal controls, significant differences were obtained for all the variables examined, but the bicaudate ratio showed the highest sensitivity and specificity. Even mildly affected patients, with duration of motor symptoms less than 3 years had higher bicaudate ratios than age-matched controls. (orig.)

  17. Nucleic Acid-Based Therapy Approaches for Huntington's Disease

    Directory of Open Access Journals (Sweden)

    Tatyana Vagner

    2012-01-01

    Full Text Available Huntington's disease (HD is caused by a dominant mutation that results in an unstable expansion of a CAG repeat in the huntingtin gene leading to a toxic gain of function in huntingtin protein which causes massive neurodegeneration mainly in the striatum and clinical symptoms associated with the disease. Since the mutation has multiple effects in the cell and the precise mechanism of the disease remains to be elucidated, gene therapy approaches have been developed that intervene in different aspects of the condition. These approaches include increasing expression of growth factors, decreasing levels of mutant huntingtin, and restoring cell metabolism and transcriptional balance. The aim of this paper is to outline the nucleic acid-based therapeutic strategies that have been tested to date.

  18. 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.)

  19. Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome.

    Science.gov (United States)

    Garcia-Moreno, Hector; Fassihi, Hiva; Sarkany, Robert P E; Phukan, Julie; Warner, Thomas; Lehmann, Alan R; Giunti, Paola

    2018-01-01

    Xeroderma pigmentosum is characterized by cutaneous, ophthalmological, and neurological features. Although it is typical of childhood, late presentations can mimic different neurodegenerative conditions. We report two families presenting as Huntington's disease-like syndromes. The first case (group G) presented with neuropsychiatric features, cognitive decline and chorea. Typical lentigines were only noticed after the neurological disease started. The second case (group B) presented adult-onset chorea and neuropsychiatric symptoms after an aggressive ocular melanoma. Xeroderma pigmentosum can manifest as a Huntington's Disease-like syndrome. Classic dermatological and oncological features have to be investigated in choreic patients with negative genetic tests for Huntington's disease-like phenotypes.

  20. Did the "Woman in the Attic" in Jane Eyre Have Huntington Disease?

    Science.gov (United States)

    Coon, Elizabeth A; Hassan, Anhar

    2015-01-01

    References to neurologic disorders are frequently found in fictional literature and may precede description in the medical literature. Our aim was to compare Charlotte Brontë's depiction of Bertha Mason in Jane Eyre to the tenets set forth in George Huntington's original essay "On chorea" with the hypothesis that Mason was displaying features of Huntington disease. Charlotte Brontë's 1847 Victorian novel Jane Eyre features the character Bertha Mason, who is portrayed with a progressive psychiatric illness, violent movements, and possible cognitive decline. Similar to Huntington's tenets, Mason has a disorder with a strong family history suggestive of autosomal dominant inheritance with onset in adulthood, and culminating in suicide. Brontë's character had features of Huntington disease as originally described by Huntington. Brontë's keen characterization may have increased awareness of treatment of neuropsychiatric patients in the Victorian era.

  1. 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

  2. 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...

  3. 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...

  4. 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...

  5. Transgenic miniature pig as a model for the study of Huntington´s Disease

    Czech Academy of Sciences Publication Activity Database

    Baxa, Monika

    2012-01-01

    Roč. 22, č. 2 (2012), s. 23-25 ISSN 1210-1737 Institutional support: RVO:67985904 Keywords : transgenic pig * Huntington ´s disease * large animal model * neurodegenerative disease Subject RIV: EB - Genetics ; Molecular Biology

  6. 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/ ...

  7. Environmental factors as modulators of neurodegeneration: insights from gene-environment interactions in Huntington's disease.

    Science.gov (United States)

    Mo, Christina; Hannan, Anthony J; Renoir, Thibault

    2015-05-01

    Unlike many other neurodegenerative diseases with established gene-environment interactions, Huntington's disease (HD) is viewed as a disorder governed by genetics. The cause of the disease is a highly penetrant tandem repeat expansion encoding an extended polyglutamine tract in the huntingtin protein. In the year 2000, a pioneering study showed that the disease could be delayed in transgenic mice by enriched housing conditions. This review describes subsequent human and preclinical studies identifying environmental modulation of motor, cognitive, affective and other symptoms found in HD. Alongside the behavioral observations we also discuss potential mechanisms and the relevance to other neurodegenerative disorders, including Alzheimer's and Parkinson's disease. In mouse models of HD, increased sensorimotor and cognitive stimulation can delay or ameliorate various endophenotypes. Potential mechanisms include increased trophic support, synaptic plasticity, adult neurogenesis, and other forms of experience-dependent cellular plasticity. Subsequent clinical investigations support a role for lifetime activity levels in modulating the onset and progression of HD. Stress can accelerate memory and olfactory deficits and exacerbate cellular dysfunctions in HD mice. In the absence of effective treatments to slow the course of HD, environmental interventions offer feasible approaches to delay the disease, however further preclinical and human studies are needed in order to generate clinical recommendations. Environmental interventions could be combined with future pharmacological therapies and stimulate the identification of enviromimetics, drugs which mimic or enhance the beneficial effects of cognitive stimulation and physical activity. Copyright © 2015. Published by Elsevier Ltd.

  8. 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).

  9. Sodium phenylbutyrate in Huntington's disease: a dose-finding study.

    Science.gov (United States)

    Hogarth, Penelope; Lovrecic, Luca; Krainc, Dimitri

    2007-10-15

    Transcriptional dysregulation in Huntington's disease (HD) is mediated in part by aberrant patterns of histone acetylation. We performed a dose-finding study in human HD of sodium phenylbutyrate (SPB), a histone deacetylase inhibitor that ameliorates the HD phenotype in animal models. We used a dose-escalation/de-escalation design, using prespecified toxicity criteria and standard clinical and laboratory safety measures. The maximum tolerated dose was 15 g/day. At higher doses, toxicity included vomiting, lightheadedness, confusion, and gait instability. We saw no significant laboratory or electrocardiographic abnormalities. Gene expression changes in blood suggested an inverse dose-response. In conclusion, SPB at 12 to 15 g/day appears to be safe and well-tolerated in human HD. 2007 Movement Disorder Society

  10. Making a measurable difference in advanced Huntington disease care.

    Science.gov (United States)

    Moskowitz, Carol Brown; Rao, Ashwini K

    2017-01-01

    Neurologists' role in the care of people with advanced Huntington disease (HD) (total functional capacity speech and language pathology), behavioral and psychiatric professionals for problem-solving strategies, which must be reviewed with direct care staff before implementation; (3) encourage and support qualitative and quantitative interdisciplinary research studies, and randomized controlled studies of nonpharmacologic interventions; and (4) assist in the development of meaningful measures to further document what works to provide a good quality of life for the patient and family and a comfortable thoughtful approach to a good death. Collaborative models of care depend on: (1) clear communication; (2) ongoing education and support programs; with (3) pharmacologic and rehabilitation interventions, always in the context of respect for the person with HD, a preservation of the individuals' dignity, autonomy, and individual preferences. Copyright © 2017 Elsevier B.V. All rights reserved.

  11. [Speed of ocular saccades in Huntington disease. Prospective study].

    Science.gov (United States)

    García Ruiz, P J; Cenjor, C; Ulmer, E; Hernández, J; Cantarero, S; Fanjul, S; García de Yébenes, J

    2001-02-01

    Oculomotor abnormalities, especially slow saccades, have long been recognized in Huntington's disease (HD). To study prospectively horizontal saccade velocity by videonystagmography in 21 patients with genetically confirmed HD. The study included a baseline analysis and a second evaluation after 18.8 +/- 7.1 months. We included a control group of 15 subjects. HD group exhibited decreased saccade velocity when compared with that from a control group (for predictive and unpredictive target). HD patients showed decreased saccade velocity with the passage of time (for predictive target, p < 0.01). Finally we found statistical significant correlation between saccade velocity and triplet length. The measurement of saccade velocity might be an objective method to study the natural evolution of HD, and thus evaluate the effectiveness of future therapies.

  12. Reduced gluconeogenesis and lactate clearance in Huntington's disease

    DEFF Research Database (Denmark)

    Josefsen, Knud; Nielsen, Signe M B; Campos, André

    2010-01-01

    We studied systemic and brain glucose and lactate metabolism in Huntington's disease (HD) patients in response to ergometer cycling. Following termination of exercise, blood glucose increased abruptly in control subjects, but no peak was seen in any of the HD patients (2.0 ± 0.5 vs. 0.0 ± 0.2mM, P...... HD mouse model R6/2 following a lactate challenge, combined with reduced phosphoenolpyruvate carboxykinase and increased pyruvate kinase activity in the mouse liver suggest a reduced capacity...... for gluconeogenesis in HD, possibly contributing to the clinical symptoms of HD. We propose that blood glucose concentration in the recovery from exercise can be applied as a liver function test in HD patients....

  13. Exploring Genetic Factors Involved in Huntington Disease Age of Onset

    DEFF Research Database (Denmark)

    Valcárcel-Ocete, Leire; Alkorta-Aranburu, Gorka; Iriondo, Mikel

    2015-01-01

    age (motor AO or mAO). Multiple linear regression analyses were performed between genetic variation within 20 candidate genes and eAO or mAO, using DNA and clinical information of 253 HD patients from REGISTRY project. Gene expression analyses were carried out by RT-qPCR with an independent sample......Age of onset (AO) of Huntington disease (HD) is mainly determined by the length of the CAG repeat expansion (CAGexp) in exon 1 of the HTT gene. Additional genetic variation has been suggested to contribute to AO, although the mechanism by which it could affect AO is presently unknown. The aim...... of this study is to explore the contribution of candidate genetic factors to HD AO in order to gain insight into the pathogenic mechanisms underlying this disorder. For that purpose, two AO definitions were used: the earliest age with unequivocal signs of HD (earliest AO or eAO), and the first motor symptoms...

  14. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

    OpenAIRE

    Hensman Moss, Davina J; Pardinas, Antonio; Langbehn, Douglas; Lo, Kitty; Leavitt, Blair R; Roos, Raymund; Durr, Alexandra; Mead, Simon; Holmans, Peter; Jones, Lesley; Tabrizi, Sarah J; Coleman, A; Santos, R Dar; Decolongon, J; Sturrock, A

    2017-01-01

    Background\\ud \\ud Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure.\\ud \\ud Methods\\ud \\ud We generated a progression score on the basis of principal ...

  15. The role of tau in the pathological process and clinical expression of Huntington's disease

    DEFF Research Database (Denmark)

    Vuono, Romina; Winder-Rhodes, Sophie; de Silva, Rohan

    2015-01-01

    and progression of Huntington's disease, the exact molecular mechanisms driving its pathogenic cascade and clinical features, especially the dementia, are not fully understood. Recently the microtubule associated protein tau, MAPT, which is associated with several neurodegenerative disorders, has been implicated......-mortem brain samples from patients with Huntington's disease (n = 16) compared to cases with a known tauopathy and healthy controls. Next, we undertook a genotype-phenotype analysis of a large cohort of patients with Huntington's disease (n = 960) with a particular focus on cognitive decline. We report...... not only on the tau pathology in the Huntington's disease brain but also the association between genetic variation in tau gene and the clinical expression and progression of the disease. We found extensive pathological inclusions containing abnormally phosphorylated tau protein that co-localized in some...

  16. [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.

  17. 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 ...

  18. The Addenbrooke's Cognitive Examination-Revised accurately detects cognitive decline in Huntington's disease.

    Science.gov (United States)

    Begeti, Faye; Tan, Adrian Y K; Cummins, Gemma A; Collins, Lucy M; Guzman, Natalie Valle; Mason, Sarah L; Barker, Roger A

    2013-11-01

    Cognitive features, which begin before manifestation of the motor features, are an integral part of Huntington's disease and profoundly affect quality of life. A number of neuropsychological batteries have been used to assess this aspect of the condition, many of which are difficult to administer and time consuming, especially in advanced disease. We, therefore, investigated a simple and practical way to monitor cognition using the Addenbrooke's Cognitive Examination-Revised (ACE-R) in 126 manifest Huntington's disease patients, 28 premanifest gene carriers and 21 controls. Using this test, we demonstrated a selective decrease in phonemic, but not semantic, fluency in premanifest participants Cognitive decline in manifest Huntington's disease varied according to disease severity with extensive cognitive decline observed in early-stage Huntington's disease patients, indicating that this would be an optimal stage for interventions designed to halt cognitive decline, and lesser changes in the advanced cases. We next examined cognitive performance in patients prescribed antidopaminergic drugs as these drugs are known to decrease cognition when administered to healthy volunteers. We paradoxically found that these drugs may be beneficial, as early-stage Huntington's disease participants in receipt of them had improved attention and Mini-Mental State Examination scores. In conclusion, this is the first study to test the usefulness of the ACE-R in a Huntington's disease population and demonstrates that this is a brief, inexpensive and practical way to measure global cognitive performance in clinical practice with potential use in clinical trials.

  19. 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.

  20. Huntington's disease does not appear to increase the risk of diabetes mellitus

    DEFF Research Database (Denmark)

    Boesgaard, T W; Nielsen, Troels Tolstrup; Josefsen, Knud Elnegaard

    2009-01-01

    Huntington's disease (HD) is an autosomal, dominantly inherited, neurodegenerative disorder characterised by neurological, cognitive and psychiatric symptoms. HD has been associated with diabetes mellitus, which is, to some extent, supported by studies in transgenic HD mice. In transgenic mice...

  1. 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

  2. The story of George Huntington and his disease

    Directory of Open Access Journals (Sweden)

    Kalyan B Bhattacharyya

    2016-01-01

    Full Text Available George Huntington described some families with choreiform movements in 1872 in the United States of America and since then many such families have been described in other parts of the world and works on the genetics of the disease have brought new vistas in the understanding of the disease. In 1958, Americo Negrette, a young Venezuelan physician observed similar subjects in the vicinity of Lake Maracaibo which was presented by his co-worker, Ramon Avilla Giron at New York in 1972 when United States of America had been commemorating the centenary year of Huntington′s disease. Nancy Wexler, a psychoanalyst, whose mother had been suffering from the disease attended the meeting and organized a research team to Venezuela and they systematically studied more than 18,000 individuals in order to work out a common pedigree. They identified the genetic locus of the disease in the short arm of chromosome 4 and observed that it was a trinucleotide repeat disorder.

  3. Therapeutic approaches to preventing cell death in Huntington disease.

    Science.gov (United States)

    Kaplan, Anna; Stockwell, Brent R

    2012-12-01

    Neurodegenerative diseases affect the lives of millions of patients and their families. Due to the complexity of these diseases and our limited understanding of their pathogenesis, the design of therapeutic agents that can effectively treat these diseases has been challenging. Huntington disease (HD) is one of several neurological disorders with few therapeutic options. HD, like numerous other neurodegenerative diseases, involves extensive neuronal cell loss. One potential strategy to combat HD and other neurodegenerative disorders is to intervene in the execution of neuronal cell death. Inhibiting neuronal cell death pathways may slow the development of neurodegeneration. However, discovering small molecule inhibitors of neuronal cell death remains a significant challenge. Here, we review candidate therapeutic targets controlling cell death mechanisms that have been the focus of research in HD, as well as an emerging strategy that has been applied to developing small molecule inhibitors-fragment-based drug discovery (FBDD). FBDD has been successfully used in both industry and academia to identify selective and potent small molecule inhibitors, with a focus on challenging proteins that are not amenable to traditional high-throughput screening approaches. FBDD has been used to generate potent leads, pre-clinical candidates, and has led to the development of an FDA approved drug. This approach can be valuable for identifying modulators of cell-death-regulating proteins; such compounds may prove to be the key to halting the progression of HD and other neurodegenerative disorders. Copyright © 2012 Elsevier Ltd. All rights reserved.

  4. [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.

  5. 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.

  6. 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.

  7. Reduction in mitochondrial DNA copy number in peripheral leukocytes after onset of Huntington's disease

    DEFF Research Database (Denmark)

    Petersen, Maria Hvidberg; Budtz-Jørgensen, Esben; Sørensen, Sven Asger

    2014-01-01

    Huntington's disease (HD) is an inherited neurodegenerative disorder characterised by movement disorder, cognitive symptoms and psychiatric symptoms with predominantly adult-onset. The mutant huntingtin protein leads to mitochondrial dysfunction in blood leukocytes. This discovery led to the inve......Huntington's disease (HD) is an inherited neurodegenerative disorder characterised by movement disorder, cognitive symptoms and psychiatric symptoms with predominantly adult-onset. The mutant huntingtin protein leads to mitochondrial dysfunction in blood leukocytes. This discovery led...

  8. 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 ...

  9. Medical management of motor manifestations of Huntington disease.

    Science.gov (United States)

    McCusker, Elizabeth A; Loy, Clement T

    2017-01-01

    The motor and movement disorders of Huntington disease (HD) are managed in the context of the other disease features. Chorea and dystonia are the most common HD-associated movement disorders, and they can be assessed on research rating scales. However other motor manifestations have a significant impact. In particular, dysphagia influences choice and tolerance of treatment for the movement disorder, as will comorbidities, patient awareness, and distress related to the motor feature or movement. Treatment for other disease features may aggravate the motor disorder, e.g., increased swallowing difficulty associated with antipsychotic agents. Basic principles in deciding to institute a treatment are outlined as well as treatment of specific motor manifestations and movements. There is a paucity of evidence to support the treatments available for the motor disorder, with only one agent with class 1 evidence, tetrabenazine, for chorea. There are, however, treatments informed by expert opinion which reflect the management of a wider HD phenotype than that represented in clinical trials. Some treatments are based on evidence from use in other conditions. Medical management is usually undertaken later in the disease with concurrent nonmedical interventions after multidisciplinary assessments. Medication review with HD progression is essential. Copyright © 2017 Elsevier B.V. All rights reserved.

  10. Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey.

    Science.gov (United States)

    Bombard, Yvonne; Veenstra, Gerry; Friedman, Jan M; Creighton, Susan; Currie, Lauren; Paulsen, Jane S; Bottorff, Joan L; Hayden, Michael R

    2009-06-09

    To assess the nature and prevalence of genetic discrimination experienced by people at risk for Huntington's disease who had undergone genetic testing or remained untested. Cross sectional, self reported survey. Seven genetics and movement disorders clinics servicing rural and urban communities in Canada. 233 genetically tested and untested asymptomatic people at risk for Huntington's disease (response rate 80%): 167 underwent testing (83 had the Huntington's disease mutation, 84 did not) and 66 chose not to be tested. Self reported experiences of genetic discrimination and related psychological distress based on family history or genetic test results. Discrimination was reported by 93 respondents (39.9%). Reported experiences occurred most often in insurance (29.2%), family (15.5%), and social (12.4%) settings. There were few reports of discrimination in employment (6.9%), health care (8.6%), or public sector settings (3.9%). Although respondents who were aware that they carried the Huntington's disease mutation reported the highest levels of discrimination, participation in genetic testing was not associated with increased levels of genetic discrimination. Family history of Huntington's disease, rather than the result of genetic testing, was the main reason given for experiences of genetic discrimination. Psychological distress was associated with genetic discrimination (PGenetic discrimination was commonly reported by people at risk for Huntington's disease and was a source of psychological distress. Family history, and not genetic testing, was the major reason for genetic discrimination.

  11. 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...

  12. Altered brain mechanisms of emotion processing in pre-manifest Huntington's disease.

    Science.gov (United States)

    Novak, Marianne J U; Warren, Jason D; Henley, Susie M D; Draganski, Bogdan; Frackowiak, Richard S; Tabrizi, Sarah J

    2012-04-01

    Huntington's disease is an inherited neurodegenerative disease that causes motor, cognitive and psychiatric impairment, including an early decline in ability to recognize emotional states in others. The pathophysiology underlying the earliest manifestations of the disease is not fully understood; the objective of our study was to clarify this. We used functional magnetic resonance imaging to investigate changes in brain mechanisms of emotion recognition in pre-manifest carriers of the abnormal Huntington's disease gene (subjects with pre-manifest Huntington's disease): 16 subjects with pre-manifest Huntington's disease and 14 control subjects underwent 1.5 tesla magnetic resonance scanning while viewing pictures of facial expressions from the Ekman and Friesen series. Disgust, anger and happiness were chosen as emotions of interest. Disgust is the emotion in which recognition deficits have most commonly been detected in Huntington's disease; anger is the emotion in which impaired recognition was detected in the largest behavioural study of emotion recognition in pre-manifest Huntington's disease to date; and happiness is a positive emotion to contrast with disgust and anger. Ekman facial expressions were also used to quantify emotion recognition accuracy outside the scanner and structural magnetic resonance imaging with voxel-based morphometry was used to assess the relationship between emotion recognition accuracy and regional grey matter volume. Emotion processing in pre-manifest Huntington's disease was associated with reduced neural activity for all three emotions in partially separable functional networks. Furthermore, the Huntington's disease-associated modulation of disgust and happiness processing was negatively correlated with genetic markers of pre-manifest disease progression in distributed, largely extrastriatal networks. The modulated disgust network included insulae, cingulate cortices, pre- and postcentral gyri, precunei, cunei, bilateral putamena

  13. Mitochondrial DNA levels in Huntington disease leukocytes and dermal fibroblasts.

    Science.gov (United States)

    Jędrak, Paulina; Krygier, Magdalena; Tońska, Katarzyna; Drozd, Małgorzata; Kaliszewska, Magdalena; Bartnik, Ewa; Sołtan, Witold; Sitek, Emilia J; Stanisławska-Sachadyn, Anna; Limon, Janusz; Sławek, Jarosław; Węgrzyn, Grzegorz; Barańska, Sylwia

    2017-08-01

    Huntington disease (HD) is an inherited neurodegenerative disorder caused by mutations in the huntingtin gene. Involvement of mitochondrial dysfunctions in, and especially influence of the level of mitochondrial DNA (mtDNA) on, development of this disease is unclear. Here, samples of blood from 84 HD patients and 79 controls, and dermal fibroblasts from 10 HD patients and 9 controls were analysed for mtDNA levels. Although the type of mitochondrial haplogroup had no influence on the mtDNA level, and there was no correlation between mtDNA level in leukocytes in HD patients and various parameters of HD severity, some considerable differences between HD patients and controls were identified. The average mtDNA/nDNA relative copy number was significantly higher in leukocytes, but lower in fibroblasts, of symptomatic HD patients relative to the control group. Moreover, HD women displayed higher mtDNA levels in leukocytes than HD men. Because this is the largest population analysed to date, these results might contribute to explanation of discrepancies between previously published studies concerning levels of mtDNA in cells of HD patients. We suggest that the size of the investigated population and type of cells from which DNA is isolated could significantly affect results of mtDNA copy number estimation in HD. Hence, these parameters should be taken into consideration in studies on mtDNA in HD, and perhaps also in other diseases where mitochondrial dysfunction occurs.

  14. Predictive gene testing for Huntington disease and other neurodegenerative disorders.

    Science.gov (United States)

    Wedderburn, S; Panegyres, P K; Andrew, S; Goldblatt, J; Liebeck, T; McGrath, F; Wiltshire, M; Pestell, C; Lee, J; Beilby, J

    2013-12-01

    Controversies exist around predictive testing (PT) programmes in neurodegenerative disorders. This study sets out to answer the following questions relating to Huntington disease (HD) and other neurodegenerative disorders: differences between these patients in their PT journeys, why and when individuals withdraw from PT, and decision-making processes regarding reproductive genetic testing. A case series analysis of patients having PT from the multidisciplinary Western Australian centre for PT over the past 20 years was performed using internationally recognised guidelines for predictive gene testing in neurodegenerative disorders. Of 740 at-risk patients, 518 applied for PT: 466 at risk of HD, 52 at risk of other neurodegenerative disorders - spinocerebellar ataxias, hereditary prion disease and familial Alzheimer disease. Thirteen percent withdrew from PT - 80.32% of withdrawals occurred during counselling stages. Major withdrawal reasons related to timing in the patients' lives or unknown as the patient did not disclose the reason. Thirty-eight HD individuals had reproductive genetic testing: 34 initiated prenatal testing (of which eight withdrew from the process) and four initiated pre-implantation genetic diagnosis. There was no recorded or other evidence of major psychological reactions or suicides during PT. People withdrew from PT in relation to life stages and reasons that are unknown. Our findings emphasise the importance of: (i) adherence to internationally recommended guidelines for PT; (ii) the role of the multidisciplinary team in risk minimisation; and (iii) patient selection. © 2013 The Authors; Internal Medicine Journal © 2013 Royal Australasian College of Physicians.

  15. Neuropathological Comparison of Adult Onset and Juvenile Huntington's Disease with Cerebellar Atrophy: A Report of a Father and Son.

    Science.gov (United States)

    Latimer, Caitlin S; Flanagan, Margaret E; Cimino, Patrick J; Jayadev, Suman; Davis, Marie; Hoffer, Zachary S; Montine, Thomas J; Gonzalez-Cuyar, Luis F; Bird, Thomas D; Keene, C Dirk

    2017-01-01

    Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by a trinucleotide (CAG) repeat expansion in huntingtin (HTT) on chromosome 4. Anticipation can cause longer repeat expansions in children of HD patients. Juvenile Huntington's disease (JHD), defined as HD arising before age 20, accounts for 5-10% of HD cases, with cases arising in the first decade accounting for approximately 1%. Clinically, JHD differs from the predominately choreiform adult onset Huntington's disease (AOHD) with variable presentations, including symptoms such as myoclonus, seizures, Parkinsonism, and cognitive decline. The neuropathologic changes of AOHD are well characterized, but there are fewer reports that describe the neuropathology of JHD. Here we report a case of a six-year-old boy with paternally-inherited JHD caused by 169 CAG trinucleotide repeats who presented at age four with developmental delay, dysarthria, and seizures before dying at age 6. The boy's clinical presentation and neuropathological findings are directly compared to those of his father, who presented with AOHD and 54 repeats. A full autopsy was performed for the JHD case and a brain-only autopsy was performed for the AOHD case. Histochemically- and immunohistochemically-stained slides were prepared from formalin-fixed, paraffin-embedded tissue sections. Both cases had neuropathology corresponding to Vonsattel grade 3. The boy also had cerebellar atrophy with huntingtin-positive inclusions in the cerebellum, findings not present in the father. Autopsies of father and son provide a unique opportunity to compare and contrast the neuropathologic findings of juvenile and adult onset HD while also providing the first immunohistochemical evidence of cerebellar involvement in JHD. Additionally this is the first known report to include findings from peripheral tissue in a case of JHD.

  16. Human glia can both induce and rescue aspects of disease phenotype in Huntington disease

    DEFF Research Database (Denmark)

    Benraiss, Abdellatif; Wang, Su; Herrlinger, Stephanie

    2016-01-01

    The causal contribution of glial pathology to Huntington disease (HD) has not been heavily explored. To define the contribution of glia to HD, we established human HD glial chimeras by neonatally engrafting immunodeficient mice with mutant huntingtin (mHTT)-expressing human glial progenitor cells...... chimeras are hyperexcitable. Conversely, normal glia can ameliorate disease phenotype in transgenic HD mice, as striatal transplantation of normal glia rescues aspects of electrophysiological and behavioural phenotype, restores interstitial potassium homeostasis, slows disease progression and extends...

  17. [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.

  18. [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

  19. Huntington Disease - principles and practice of nutritional management.

    Science.gov (United States)

    Zukiewicz-Sobczak, Wioletta; Król, Renata; Wróblewska, Paula; Piątek, Jacek; Gibas-Dorna, Magdalena

    2014-01-01

    Huntington disease (HD) is a degenerative brain disease clinically manifested by the characteristic triad: physical symptoms including involuntary movements and poor coordination, cognitive changes with less ability to organize routine tasks, and some emotional and behavioral disturbances. For patients with HD, feeding is one of the problems they have to face. People with HD often have lower than average body weight and struggle with malnutrition. As a part of therapy, good nutrition is an intervention maintaining health and functional ability for maximally prolonged time. In the early stages of HD, small amounts of blenderized foods given orally are recommended. In more advanced stages, enteral nutrition is essential using gastric, or jejunal tubes for short term. Most severe cases require gastrostomy or gastrojejunostomy. Although enteral feeding is well tolerated by most of the patients, a number of complications may occur, including damage to the nose, pharynx, or esophagus, aspiration pneumonia, sinusitis, metabolic imbalances due to improper nutrient and fluid supply, adverse effects affecting gastrointestinal system, and refeeding syndrome. Copyright © 2014 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

  20. Cognitive and behavioral changes in Huntington disease before diagnosis.

    Science.gov (United States)

    Paulsen, Jane S; Miller, Amanda C; Hayes, Terry; Shaw, Emily

    2017-01-01

    Phenotypic manifestations of Huntington disease (HD) can be detected at least 15 years prior to the time when a motor diagnosis is given. Advances in clinical care and future research will require consistent use of HD definitions and HD premanifest (prodromal) stages being used across clinics, sites, and countries. Cognitive and behavioral (psychiatric) changes in HD are summarized and implications for ongoing advancement in our knowledge of prodromal HD are suggested. The earliest detected cognitive changes are observed in the Symbol Digit Modalities Test, Stroop Interference, Stroop Color and Word Test-interference condition, and Trail Making Test. Cognitive changes in the middle and near motor diagnostic stages of prodromal HD involve nearly every cognitive test administered and the greatest changes over time (i.e., slopes) are found in those prodromal HD participants who are nearest to motor diagnosis. Psychiatric changes demonstrate significant worsening over time and remain elevated compared with healthy controls throughout the prodromal disease course. Psychiatric and behavior changes in prodromal HD are much lower than that obtained using cognitive assessment, although the psychiatric and behavioral changes represent symptoms most debilitating to independent capacity and wellness. Copyright © 2017 Elsevier B.V. All rights reserved.

  1. Total recognition discriminability in Huntington's and Alzheimer's disease.

    Science.gov (United States)

    Graves, Lisa V; Holden, Heather M; Delano-Wood, Lisa; Bondi, Mark W; Woods, Steven Paul; Corey-Bloom, Jody; Salmon, David P; Delis, Dean C; Gilbert, Paul E

    2017-03-01

    Both the original and second editions of the California Verbal Learning Test (CVLT) provide an index of total recognition discriminability (TRD) but respectively utilize nonparametric and parametric formulas to compute the index. However, the degree to which population differences in TRD may vary across applications of these nonparametric and parametric formulas has not been explored. We evaluated individuals with Huntington's disease (HD), individuals with Alzheimer's disease (AD), healthy middle-aged adults, and healthy older adults who were administered the CVLT-II. Yes/no recognition memory indices were generated, including raw nonparametric TRD scores (as used in CVLT-I) and raw and standardized parametric TRD scores (as used in CVLT-II), as well as false positive (FP) rates. Overall, the patient groups had significantly lower TRD scores than their comparison groups. The application of nonparametric and parametric formulas resulted in comparable effect sizes for all group comparisons on raw TRD scores. Relative to the HD group, the AD group showed comparable standardized parametric TRD scores (despite lower raw nonparametric and parametric TRD scores), whereas the previous CVLT literature has shown that standardized TRD scores are lower in AD than in HD. Possible explanations for the similarity in standardized parametric TRD scores in the HD and AD groups in the present study are discussed, with an emphasis on the importance of evaluating TRD scores in the context of other indices such as FP rates in an effort to fully capture recognition memory function using the CVLT-II.

  2. Plasma homovanillic acid and prolactin in Huntington's disease.

    Science.gov (United States)

    Markianos, Manolis; Panas, Marios; Kalfakis, Nikos; Vassilopoulos, Dimitrios

    2009-05-01

    Dopaminergic activity is expected to be altered in patients with Huntington's disease (HD) and be related to factors like duration and severity of illness or patients' specific symptomatology like dementia, depression, or psychotic features. We assessed plasma homovanillic acid (pHVA) and plasma prolactin (pPRL), two correlates of dopaminergic activity, in 116 subjects with CAG repeats expansion in the HD gene, 26 presymptomatic (18 females) and 90 with overt symptomatology (43 females). Patients were evaluated using the Unified HD Rating Scale and the Total Functional Capacity Scale. Presence of dementia, depression, and psychotic features were also assessed. The age range of the patients was 22-83 years, duration of illness from 0.5 to 27 years, and CAG repeat number from 34 to 66. A group of 60 age and sex matched healthy subjects served as control group. Plasma PRL in subjects at risk and in neuroleptic-free patients, evaluated separately for males and females, did not differ from controls. Plasma HVA levels did not differ from controls in the group of presymptomatic subjects, but were significantly higher in the patients group. This increase was positively associated mainly with severity of illness and functional capacity of the patients, and not with presence of depression or dementia. Plasma HVA levels may be proven to be a peripheral index of disease progression. Reducing dopaminergic activity may have not only symptomatic, but also neuroprotective effects in HD.

  3. Parkinson's Disease Videos

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    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 ...

  4. 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 ...

  5. 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 ...

  6. 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.

  7. Progressive microstructural changes of the occipital cortex in Huntington's disease.

    Science.gov (United States)

    Odish, Omar F F; Reijntjes, Robert H A M; van den Bogaard, Simon J A; Roos, Raymund A C; Leemans, Alexander

    2018-02-28

    In this study we longitudinally investigated the rate of microstructural alterations in the occipital cortex in different stages of Huntington's disease (HD) by applying an automated atlas-based approach to diffusion MRI data. Twenty-two premanifest (preHD), 10 early manifest HD (early HD) and 24 healthy control subjects completed baseline and two year follow-up scans. The preHD group was stratified based on the predicted years to disease onset into a far (preHD-A) and near (preHD-B) to disease onset group. Clinical and behavioral measures were collected per assessment time point. An automated atlas-based DTI analysis approach was used to obtain the mean, axial and radial diffusivities of the occipital cortex. We found that the longitudinal rate of diffusivity change in the superior occipital gyrus (SOG), middle occipital gyrus (MOG), and inferior occipital gyrus (IOG) was significantly higher in early HD compared to both preHD and controls (all p's ≤ 0.005), which can be interpreted as an increased rate of microstructural degeneration. Furthermore, the change rate in the diffusivity of the MOG could significantly discriminate between preHD-B compared to preHD-A and the other groups (all p's ≤ 0.04). Finally, we found an inverse correlation between the Stroop Word Reading task and diffusivities in the SOG and MOG (all p's ≤ 0.01). These findings suggest that measures obtained from the occipital cortex can serve as sensitive longitudinal biomarkers for disease progression in preHD-B and early HD. These could in turn be used to assess potential effects of proposed disease modifying therapies.

  8. Parkinson's Disease Videos

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    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: ...

  9. Pitfalls in the detection of cholesterol in Huntington's disease models.

    Science.gov (United States)

    Marullo, Manuela; Valenza, Marta; Leoni, Valerio; Caccia, Claudio; Scarlatti, Chiara; De Mario, Agnese; Zuccato, Chiara; Di Donato, Stefano; Carafoli, Ernesto; Cattaneo, Elena

    2012-10-11

    Background Abnormalities in brain cholesterol homeostasis have been reported in Huntington's disease (HD), an adult-onset neurodegenerative disorder caused by an expansion in the number of CAG repeats in the huntingtin (HTT) gene. However, the results have been contradictory with respect to whether cholesterol levels increase or decrease in HD models. Biochemical and mass spectrometry methods show reduced levels of cholesterol precursors and cholesterol in HD cells and in the brains of several HD animal models. Abnormal brain cholesterol homeostasis was also inferred from studies in HD patients. In contrast, colorimetric and enzymatic methods indicate cholesterol accumulation in HD cells and tissues. Here we used several methods to investigate cholesterol levels in cultured cells in the presence or absence of mutant HTT protein. Results Colorimetric and enzymatic methods with low sensitivity gave variable results, whereas results from a sensitive analytical method, gas chromatography-mass spectrometry, were more reliable. Sample preparation, high cell density and cell clonality also influenced the detection of intracellular cholesterol. Conclusions Detection of cholesterol in HD samples by colorimetric and enzymatic assays should be supplemented by detection using more sensitive analytical methods. Care must be taken to prepare the sample appropriately. By evaluating lathosterol levels using isotopic dilution mass spectrometry, we confirmed reduced cholesterol biosynthesis in knock-in cells expressing the polyQ mutation in a constitutive or inducible manner. *Correspondence should be addressed to Elena Cattaneo: elena.cattaneo@unimi.it.

  10. Controlled clinical trial of cannabidiol in Huntington's disease.

    Science.gov (United States)

    Consroe, P; Laguna, J; Allender, J; Snider, S; Stern, L; Sandyk, R; Kennedy, K; Schram, K

    1991-11-01

    Based on encouraging preliminary findings, cannabidiol (CBD), a major nonpsychotropic constituent of Cannabis, was evaluated for symptomatic efficacy and safety in 15 neuroleptic-free patients with Huntington's Disease (HD). The effects of oral CBD (10 mg/kg/day for 6 weeks) and placebo (sesame oil for 6 weeks) were ascertained weekly under a double-blind, randomized cross-over design. A comparison of the effects of CBD and placebo on chorea severity and other therapeutic outcome variables, and on a Cannabis side effect inventory, clinical lab tests and other safety outcome variables, indicated no significant (p greater than 0.05) or clinically important differences. Correspondingly, plasma levels of CBD were assayed by GC/MS, and the weekly levels (mean range of 5.9 to 11.2 ng/ml) did not differ significantly over the 6 weeks of CBD administration. In summary, CBD, at an average daily dose of about 700 mg/day for 6 weeks, was neither symptomatically effective nor toxic, relative to placebo, in neuroleptic-free patients with HD.

  11. Constitutive upregulation of chaperone-mediated autophagy in Huntington's disease.

    Science.gov (United States)

    Koga, Hiroshi; Martinez-Vicente, Marta; Arias, Esperanza; Kaushik, Susmita; Sulzer, David; Cuervo, Ana Maria

    2011-12-14

    Autophagy contributes to the removal of prone-to-aggregate proteins, but in several instances these pathogenic proteins have been shown to interfere with autophagic activity. In the case of Huntington's disease (HD), a congenital neurodegenerative disorder resulting from mutation in the huntingtin protein, we have previously described that the mutant protein interferes with the ability of autophagic vacuoles to recognize cytosolic cargo. Growing evidence supports the existence of cross talk among autophagic pathways, suggesting the possibility of functional compensation when one of them is compromised. In this study, we have identified a compensatory upregulation of chaperone-mediated autophagy (CMA) in different cellular and mouse models of HD. Components of CMA, namely the lysosome-associated membrane protein type 2A (LAMP-2A) and lysosomal-hsc70, are markedly increased in HD models. The increase in LAMP-2A is achieved through both an increase in the stability of this protein at the lysosomal membrane and transcriptional upregulation of this splice variant of the lamp-2 gene. We propose that CMA activity increases in response to macroautophagic dysfunction in the early stages of HD, but that the efficiency of this compensatory mechanism may decrease with age and so contribute to cellular failure and the onset of pathological manifestations.

  12. Huntington's disease in Greece: the experience of 14 years.

    Science.gov (United States)

    Panas, M; Karadima, G; Vassos, E; Kalfakis, N; Kladi, A; Christodoulou, K; Vassilopoulos, D

    2011-12-01

    A large scale genetic and epidemiological study of Huntington's disease (HD) was carried out in Greece from January 1995 to December 2008. Diagnostic testing was carried out in 461 symptomatic individuals, while 256 were tested for presymptomatic purposes. The diagnosis of HD with a CAG expansion ≥ 36 was confirmed in 278 symptomatic individuals. The prevalence of HD in Greece was estimated at approximately 2.5 to 5.4:100,000, while the mean minimum incidence was estimated at 2.2 to 4.4 per million per year. The molecular diagnosis of HD was confirmed in the majority of patients (84.4%) sent for confirmation. The false-positive cases 15.6% were characterized by the absence of a family history of HD and the presence of an atypical clinical picture. The uptake of predictive testing for HD was 8.6%. A prenatal test was requested in six pregnancies. The findings of our study do not differ significantly from those of similar studies from other European countries despite the relative genetic isolation of Greece. Of interest is the identification of clusters of HD in Greece. The presence or absence of a family history of HD should be interpreted cautiously, during the diagnostic process. © 2010 John Wiley & Sons A/S.

  13. 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.

  14. 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....

  15. 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

  16. 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 ...

  17. 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

  18. 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.

  19. 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)

  20. 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.)

  1. Identification of extreme motor phenotypes in Huntington's disease.

    Science.gov (United States)

    Braisch, Ulrike; Hay, Birgit; Muche, Rainer; Rothenbacher, Dietrich; Landwehrmeyer, G Bernhard; Long, Jeffrey D; Orth, Michael

    2017-04-01

    The manifestation of motor signs in Huntington's disease (HD) has a well-known inverse relationship with HTT CAG repeat length, but the prediction is far from perfect. The probability of finding disease modifiers is enhanced in individuals with extreme HD phenotypes. We aimed to identify extreme HD motor phenotypes conditional on CAG and age, such as patients with very early or very late onset of motor manifestation. Retrospective data were available from 1,218 healthy controls and 9,743 HD participants with CAG repeats ≥40, and a total of about 30,000 visits. Boundaries (2.5% and 97.5% quantiles) for extreme motor phenotypes (UHDRS total motor score (TMS) and motor age-at-onset) were estimated using quantile regression for longitudinal data. More than 15% of HD participants had an extreme TMS phenotype for at least one visit. In contrast, only about 4% of participants were consistent TMS extremes at two or more visits. Data from healthy controls revealed an upper cut-off of 13 for the TMS representing the extreme of motor ratings for a normal aging population. In HD, boundaries of motor age-at-onset based on diagnostic confidence or derived from the TMS data cut-off in controls were similar. In summary, a UHDRS TMS of more than 13 in an individual carrying the HD mutation indicates a high likelihood of motor manifestations of HD irrespective of CAG repeat length or age. The identification of motor phenotype extremes can be useful in the search for disease modifiers, for example, genetic or environmental such as medication. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  2. Brain imaging and cognitive dysfunctions in Huntington's disease

    Science.gov (United States)

    Montoya, Alonso; Price, Bruce H.; Menear, Matthew; Lepage, Martin

    2006-01-01

    Recent decades have seen tremendous growth in our understanding of the cognitive dysfunctions observed in Huntington's disease (HD). Advances in neuroimaging have contributed greatly to this growth. We reviewed the role that structural and functional neuroimaging techniques have played in elucidating the cerebral bases of the cognitive deficits associated with HD. We conducted a computer-based search using PubMed and PsycINFO databases to retrieve studies of patients with HD published between 1965 and December 2004 that reported measures on cognitive tasks and used neuroimaging techniques. Structural neuroimaging has provided important evidence of morphological brain changes in HD. Striatal and cortical atrophy are the most common findings, and they correlate with cognitive deficits in attention, working memory and executive functions. Functional studies have also demonstrated correlations between striatal dysfunction and cognitive performance. Striatal hypoperfusion and decreased glucose utilization correlate with executive dysfunction. Hypometabolism also occurs throughout the cerebral cortex and correlates with performance on recognition memory, language and perceptual tests. Measures of presynaptic and postsynaptic dopamine biochemistry have also correlated with measurements of episodic memory, speed of processing and executive functioning. Aided by the results of numerous neuroimaging studies, it is becoming increasingly clear that cognitive deficits in HD involve abnormal connectivity between the basal ganglia and cortical areas. In the future, neuroimaging techniques may shed the most light on the pathophysiology of HD by defining neurodegenerative disease phenotypes as a valuable tool for knowing when patients become “symptomatic,” having been in a gene-positive presymptomatic state, and as a biomarker in following the disease, thereby providing a prospect for improved patient care. PMID:16496032

  3. 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...

  4. 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.)

  5. Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease

    DEFF Research Database (Denmark)

    Aziz, N A; Jurgens, C K; Landwehrmeyer, G B

    2009-01-01

    OBJECTIVE: Huntington disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG repeat expansion in the HD gene (HTT). We aimed to assess whether interaction between CAG repeat sizes in the mutant and normal allele could affect disease severity and progression. METHODS: Using...... with less severe symptoms and pathology. CONCLUSIONS: Increasing CAG repeat size in normal HTT diminishes the association between mutant CAG repeat size and disease severity and progression in Huntington disease. The underlying mechanism may involve interaction of the polyglutamine domains of normal...

  6. 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.

  7. Tremor in neurodegenerative ataxias, Huntington disease and tic disorder.

    Science.gov (United States)

    Rudzińska, M; Krawczyk, M; Wójcik-Pędziwiatr, M; Szczudlik, A; Tomaszewski, T

    2013-01-01

    Tremor is the most prevalent movement disorder, defined as rhythmic oscillations of a body part, caused by alternating or synchronic contractions of agonistic or antagonistic muscles. The aim of the study was to assess prevalence and to characterize parameters of tremor accompanying de-generative ataxias, Huntington disease (HD) and tic disorders in comparison with a control group. Forty-three patients with degenerative ataxias, 28 with HD and 26 with tic disorders together with 51 healthy controls were included in the study. For each participant, clinical and instrumental assessment (accelerometer, electromyography [EMG], graphic tablet) of hand tremor was performed. Frequency and severity of tremor were assessed in three positions: at rest (rest tremor), with hands extended (postural tremor), during the 'finger-to-nose' test and during Archimedes spiral drawing (kinetic tremor). Based on the mass load test, the type of tremor was determined as essential tremor type or enhanced physiological tremor type. The incidence of tremor in the accelerometry in patients with degenerative ataxia (50%) significantly differs from controls (10%) (p = 0.001). The dominant tremor was postural, low-intense, with 7-Hz frequency, essential tremor (23%) or other tremor type (23%), while enhanced physiological tremor was the least frequent (2%). Tremor in patients with HD and tic disorders was found in 10% and 20% of patients, respectively, similarly to the control group. Tremor was mild, postural and of essential tremor type, less frequently of enhanced physiological tremor type. No correlation between severity of tremor and severity of disease was found. The prevalence of tremor is considerably higher among patients with degenerative ataxias compared with HD, tic disorder and the control group. The most common type of tremor accompanying ataxias, HD and tic disorders is essential tremor type.

  8. Predictors of Workplace Disability in a Premanifest Huntington's Disease Cohort.

    Science.gov (United States)

    Goh, Anita M Y; You, Emily; Perin, Stephanie; Clay, Fiona J; Loi, Samantha; Ellis, Kathryn; Chong, Terence; Ames, David; Lautenschlager, Nicola

    2018-01-01

    Huntington's disease (HD) is an inherited neurodegenerative disease involving motor, cognitive, and psychiatric/behavioral impairments that will eventually affect work role functioning. Few objective data exist regarding predictors of workplace disability in HD. The authors explored the predictors of work impairment and disability in a cross-sectional cohort of 656 employed, premanifest HD (preHD) individuals. In this cohort-the majority of whom were female, urban-dwelling, married/partnered, and working full-time, with minimal cognitive impairment, good function, minimal motor abnormality, and no indication of significant mental health issues-the number of participants who reported that they had missed work due to HD was low (2.4%). However, 12% of the study sample reported experiencing impairment while working due to preHD, 12.2% reported work-related activity impairment due to preHD, and 12.7% reported impairment in their overall work ability. Higher numbers of CAG repeats on the mutant allele and having more motor symptoms were associated with significantly higher odds of experiencing workplace impairment. Importantly, several modifiable factors were also found to predict workplace disability. Specifically, higher levels of anxiety symptoms were associated with significantly higher odds of experiencing workplace impairment. Good mental and physical health served as protective factors, where good physical health was associated with 6% lower odds of experiencing impairment or missing work time and good mental health was associated with of 10%-12% lower. The results provide important new knowledge for the development of future targeted intervention trials to support preHD individuals in maintaining their work roles as long as possible.

  9. An electrophysiological analysis of altered cognitive functions in Huntington disease.

    Science.gov (United States)

    Münte, T F; Ridao-Alonso, M E; Preinfalk, J; Jung, A; Wieringa, B M; Matzke, M; Dengler, R; Johannes, S

    1997-09-01

    Neuropsychological deficits are a main feature of Huntington disease (HD) with previous data suggesting involvement of memory functions and visual processing. To increase the knowledge about cognitive malfunction in HD in the domains of visual processing and memory by the use of modern electrophysiological techniques (event-related potentials [ERPs]). A case-control design was used. Three ERP paradigms were used; a parallel visual search paradigm allowed for the simultaneous processing of a multi-element visual array in search of a target stimulus, while a serial search paradigm with varied numbers of distractor items necessitated a serial one by one scanning of the arrays. The third experiment was a word-recognition memory task. The measurements were obtained in a neurophysiological laboratory of a university hospital. Nine patients with HD and 9 control subjects matched for age, sex, and education were studied. Components of averaged ERPs were quantified by latency and amplitude measures and subjected to statistical analysis. Behavioral measures (search time, hit rate, and recognition accuracy) were assessed as well. The early visual components showed a significant latency shift (delay of about 50 milliseconds) in HD. In the search paradigms the P3 components differentiating target and standard stimuli were virtually absent in HD as was the ERP effect indexing word recognition. This was accompanied by a marked delay in search times and lower hit rates in the search tasks and a grossly reduced recognition accuracy in the memory task. The results suggest marked impairments of patients with HD in early visual sensory processing (early components). Deficits in visual search might be attributed to an impairment to deploy attentional resources across the visual field and/or an inability to control eye movements. The ERPs in the memory task differed grossly from similar data obtained by others in patients with Alzheimer disease, suggesting a different neural basis for

  10. Drosophila eye color mutants as therapeutic tools for Huntington disease.

    Science.gov (United States)

    Green, Edward W; Campesan, Susanna; Breda, Carlo; Sathyasaikumar, Korrapati V; Muchowski, Paul J; Schwarcz, Robert; Kyriacou, Charalambos P; Giorgini, Flaviano

    2012-01-01

    Huntington disease (HD) is a fatal inherited neurodegenerative disorder caused by a polyglutamine expansion in the huntingtin protein (htt). A pathological hallmark of the disease is the loss of a specific population of striatal neurons, and considerable attention has been paid to the role of the kynurenine pathway (KP) of tryptophan (TRP) degradation in this process. The KP contains three neuroactive metabolites: 3-hydroxykynurenine (3-HK), quinolinic acid (QUIN), and kynurenic acid (KYNA). 3-HK and QUIN are neurotoxic, and are increased in the brains of early stage HD patients, as well as in yeast and mouse models of HD. Conversely, KYNA is neuroprotective and has been shown to be decreased in HD patient brains. We recently used a Drosophila model of HD to measure the neuroprotective effect of genetic and pharmacological inhibition of kynurenine monoxygenase (KMO)-the enzyme catalyzing the formation of 3-HK at a pivotal branch point in the KP. We found that KMO inhibition in Drosophila robustly attenuated neurodegeneration, and that this neuroprotection was correlated with reduced levels of 3-HK relative to KYNA. Importantly, we showed that KP metabolites are causative in this process, as 3-HK and KYNA feeding experiments modulated neurodegeneration. We also found that genetic inhibition of the upstream KP enzyme tryptophan-2,3-dioxygenase (TDO) was neuroprotective in flies. Here, we extend these results by reporting that genetic impairment of KMO or TDO is protective against the eclosion defect in HD model fruit flies. Our results provide further support for the possibility of therapeutic KP interventions in HD.

  11. Late-onset Huntington's disease: diagnostic and prognostic considerations.

    Science.gov (United States)

    Koutsis, Georgios; Karadima, Georgia; Kladi, Athina; Panas, Marios

    2014-07-01

    To address diagnostic and prognostic issues in patients with late-onset Huntington's disease (HD). We analyzed a cohort of 41 late-onset (≥60 years) HD patients and compared them to 39 late-onset patients referred for HD testing that were negative for the HD-expansion and to 290 usual-onset (20-59 years) HD patients. Disease severity was assessed by the Total Functional Capacity Scale. Late-onset HD comprised 11.5% of our HD cohort. In total, 70.7% of late-onset HD patients had positive family history compared to 15.4% of late-onset expansion-negative patients (p < 0.001). Clinical features at onset or presentation could not usefully distinguish between late-onset expansion-positive and negative patients, excepting hemichorea, which was absent from the HD group (p = 0.024). Chorea was the first clinical feature in 53.7% and a presenting feature in 90.2% of late-onset HD. The mutation hit rate for late-onset patients was 51.3%, lower than in usual-onset patients (p = 0.04). Frequencies of chorea, cognitive impairment and psychiatric manifestations at onset or presentation were not significantly different between late-onset and usual-onset HD patients. Gait unsteadiness however was more common at presentation in late-onset HD (p = 0.007). Late-onset HD patients reached a severe stage of illness on average 2.8 years earlier than usual-onset HD patients (p = 0.046). A positive family history suggestive of HD, although absent in a third of patients, remains a helpful clue in diagnosing late-onset HD. Prognosis of late-onset HD in terms of Total Functional Capacity appears no better and shows a trend of being somewhat less favorable compared to usual-onset HD. Copyright © 2014 Elsevier Ltd. All rights reserved.

  12. 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 ...

  13. Synopsis on the linkage of Alzheimer's and Parkinson's disease with chronic diseases.

    Science.gov (United States)

    Jabir, Nasimudeen R; Firoz, Chelapram K; Baeesa, Saleh S; Ashraf, Ghulam Md; Akhtar, Suhail; Kamal, Warda; Kamal, Mohammad A; Tabrez, Shams

    2015-01-01

    Neurodegeneration is the progressive loss of neuronal structure and function, which ultimately leads to neurological disorders such as Alzheimer's disease (AD), Parkinson's disease (PD), multiple sclerosis, and Huntington's disease. Even after the recent significant advances in neurobiology, the above-mentioned disorders continue to haunt the global population. Several studies have suggested the role of specific environmental and genetic risk factors associated with these disorders. However, the exact mechanism associated with the progression of these disorders still needs to be elucidated. In the recent years, sophisticated research has revealed interesting association of prominent neurodegenerative disorders such as AD and PD with chronic diseases such as cancer, diabetes, and cardiovascular diseases. Several common molecular mechanisms such as generation of free radicals, oxidative DNA damage, aberrations in mitochondrial DNA, and dysregulation of apoptosis have been highlighted as possible points of connection. The present review summarizes the possible mechanism of coexistence of AD and PD with other chronic diseases. © 2014 John Wiley & Sons Ltd.

  14. 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

  15. 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.

  16. 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.

  17. Mental Symptoms in Huntington's Disease and a Possible Primary Aminergic Neuron Lesion

    Science.gov (United States)

    Mann, J. John; Stanley, Michael; Gershon, Samuel; Rossor, M.

    1980-12-01

    Monoamine oxidase activity was higher in the cerebral cortex and basal ganglia of patients dying from Huntington's disease than in controls. Enzyme kinetics and multiple substrate studies indicated that the increased activity was due to elevated concentrations of monoamine oxidase type B. Concentrations of homovanillic acid were increased in the cerebral cortex but not in the basal ganglia of brains of patients with Huntington's disease. These changes may represent a primary aminergic lesion that could underlie some of the mental symptoms of this disease.

  18. Patterns of False Memory in Patients with Huntington's Disease.

    Science.gov (United States)

    Chen, I-Wen; Chen, Chiung-Mei; Wu, Yih-Ru; Hua, Mau-Sun

    2017-06-01

    Increased false memory recognition in patients with Huntington's disease (HD) has been widely reported; however, the underlying memory constructive processes remain unclear. The present study explored gist memory, item-specific memory, and monitoring ability in patients with HD. Twenty-five patients (including 13 patients with mild HD and 12 patients with moderate-to-severe HD) and 30 healthy comparison participants (HC) were recruited. We used the Deese-Roediger-McDermott (DRM) paradigm to investigate participants' false recognition patterns, along with neuropsychological tests to assess general cognitive function. Both mild and moderate-to-severe patients with HD showed significant executive functioning and episodic memory impairment. On the DRM tasks, both HD patient groups showed significantly impaired performance in tasks assessing unrelated false recognition and item-specific memory as compared to the HC group; moderate-to-severe patients performed more poorly than mild patients did. Only moderate-severe patients exhibited significantly poorer related false recognition index scores than HCs in the verbal DRM task; performance of HD patient groups was comparable to the HC group on the pictorial DRM task. It appears that diminished verbatim memory and monitoring ability are early signs of cognitive decline during the HD course. Conversely, gist memory is relatively robust, with only partial decline during advanced-stage HD. Our findings suggest that medial temporal lobe function is relatively preserved compared to that of frontal-related structures in early HD. Thus, gist-based memory rehabilitation programs might be beneficial for patients with HD. © The Author 2017. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  19. 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

  20. 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