A survey-based Study Identifies Common But Unrecognized Symptoms in a Large Series of Juvenile Huntington’s Disease

Moser, Amelia D.; Epping, Eric A.; Espe‐Pfeifer, Patricia; Martin, Erin; Zhorne, Leah; Mathews, Katherine D.; Nance, Martha; Hudgell, Denise; Quarrell, Oliver; Nopoulos, Peg

doi:10.2217/nmt-2017-0019

Cited by 27 publications

(36 citation statements)

References 24 publications

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“…As a result, patients develop a range of clinical symptoms including personality changes, motor impairment, dementia, and weight loss ( Zielonka et al, 2015 ). In the juvenile form of HD, defined by CAG repeat length of 60 or above and HD diagnosis at 21 years of age or younger, additional symptoms are present, including bradykinesia, muscular hyperkinesis with stiffness, sleep disturbances, tics, moderate to severe leg pain, itching, and psychosis ( Moser et al, 2017 ).…”

Section: Introductionmentioning

confidence: 99%

Neuro-Cardio Mechanisms in Huntington’s Disease and Other Neurodegenerative Disorders

2018

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Although Huntington’s disease is generally considered to be a neurological disorder, there is mounting evidence that heart malfunction plays an important role in disease progression. This is perhaps not unexpected since both cardiovascular and nervous systems are strongly connected – both developmentally and subsequently in health and disease. This connection occurs through a system of central and peripheral neurons that control cardiovascular performance, while in return the cardiovascular system works as a sensor for the nervous system to react to physiological events. Hence, given their permanent interconnectivity, any pathological events occurring in one system might affect the second. In addition, some pathological signals from Huntington’s disease might occur simultaneously in both the cardiovascular and nervous systems, since mutant huntingtin protein is expressed in both. Here we aim to review the source of HD-related cardiomyopathy in the light of recently published studies, and to identify similarities between HD-related cardiomyopathy and other neuro-cardio disorders.

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Section: Introductionmentioning

confidence: 99%

Neuro-Cardio Mechanisms in Huntington’s Disease and Other Neurodegenerative Disorders

2018

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“…Results of an online survey of juvenile Huntington's disease (HD) suggests that disrupted sleep is the most prevalent common, unrecognized symptom (87%), followed by periodic limb movements, tics, and pain ( 36 , 37 ). HD gene carriers complain about sleep problems, both in terms of sleep quality as well as excessive daytime sleepiness ( 38 , 39 ).…”

Section: Movement Disorders and Rating Scalesmentioning

confidence: 99%

Rating Scales for Movement Disorders With Sleep Disturbances: A Narrative Review

et al. 2018

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Introduction: In recent years, a wide variety of rating scales and questionnaires for movement disorders have been developed and published, making reviews on their contents, and attributes convenient for the potential users. Sleep disorders are frequently present in movement disorders, and some movement disorders are accompanied by specific sleep difficulties.Aim: The aim of this study is to perform a narrative review of the most frequently used rating scales for movement disorders with sleep problems, with special attention to those recommended by the International Parkinson and Movement Disorders Society.Methods: Online databases (PubMed, SCOPUS, Web of Science, Google Scholar), related references from papers and websites and personal files were searched for information on comprehensive or global rating scales which assessed sleep disturbances in the following movement disorders: akathisia, chorea, dystonia, essential tremor, myoclonus, multiple system atrophy, Parkinson's disease, progressive supranuclear palsy, and tics and Tourette syndrome. For each rating scale, its objective and characteristics, as well as a summary of its psychometric properties and recommendations of use are described.Results: From 22 rating scales identified for the selected movement disorders, only 5 included specific questions on sleep problems. Movement Disorders Society-Unified Parkinson's Disease Rating scale (MDS-UPDRS), Non-Motor Symptoms Scale and Questionnaire (NMSS and NMSQuest), Scales for Outcomes in Parkinson's Disease (SCOPA)-Autonomic and Progressive Supranuclear Palsy Rating Scale (PSPRS) were the only rating scales that included items for assessing sleep disturbances.Conclusions: Despite sleep problems are frequent in movement disorders, very few of the rating scales addresses these specific symptoms. This may contribute to an infra diagnosis and mistreatment of the sleep problems in patients with movement disorders.

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“…399) is a rare neurodegenerative disease characterized by motor, cognitive, and psychiatric symptoms [1,2]. The condition is inherited in an autosomal dominant manner and occurs in all racial groups, with worldwide morbidity of 6-14 per 100,000 individuals [1,3]. HD is caused by the CAG triplet expansion in HTT (OMIM accession no.…”

Section: Introductionmentioning

confidence: 99%

Juvenile Huntington’s disease: two case reports and a review of the literature

et al. 2020

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Background Huntington’s disease is a rare, autosomal dominant neurodegenerative disease characterized by motor, cognitive, and psychiatric symptoms. Usually, the disease symptoms first appear around the age of 40, but in 5–10% of cases, they manifest before the age of 21. This is then referred to as juvenile Huntington’s disease. According to the small number of cases reported in the literature, the course of juvenile Huntington’s disease significantly differs from adult onset and shows significant interpatient variability, making every case unique. Case presentation Our study aims to highlight the complexity and diversity of rare juvenile Huntington’s disease. We report cases of two Caucasian patients with chronic tics referred to the Huntington’s Disease Competence Center of Vilnius University Hospital Santaros Klinikos with suspicion of juvenile Huntington’s disease due to the appearance of chronic motor tics, and behavior problems. The diagnosis of juvenile Huntington’s disease was confirmed on both clinical and genetic grounds. In both cases described, the patients developed symptoms in all three main groups: motor, cognitive, and psychiatric. However, the first patient was experiencing more severe psychiatric symptoms; in the second case, motor symptoms (rigidity, tremor) were more prominent. In both cases, apathy was one of the first symptoms and affected patients’ motivation to participate in treatment actively. These two case descriptions serve as an important message for clinicians seeing patients with chronic tics and gradually worsening mood and behavior, indicating the need to investigate them for rare genetic disorders. Conclusions Description of these two clinical cases of juvenile Huntington’s disease provides insight into how differently it manifests and progresses in young patients and the difficulties the patients and their families face. There were different but painful ways for families to accept the diagnosis. Because the disease inevitably affects the patient’s closest ones, it is crucial to also provide adequate psychological and social support to all the family members. Establishment of multidisciplinary specialist centers for Huntington’s disease, as demonstrated by our experience, not only allows timely diagnosis and treatment plans but also ensures thorough disease management and care for patients and systematic support for their families.

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A survey-based Study Identifies Common But Unrecognized Symptoms in a Large Series of Juvenile Huntington’s Disease

Abstract: Despite limitations, the study supports that there are symptoms in the JHD population that are not considered classic, however, are common and significant for patients and caregivers.

Cited by 27 publications

References 24 publications

Neuro-Cardio Mechanisms in Huntington’s Disease and Other Neurodegenerative Disorders

Neuro-Cardio Mechanisms in Huntington’s Disease and Other Neurodegenerative Disorders

Rating Scales for Movement Disorders With Sleep Disturbances: A Narrative Review

Juvenile Huntington’s disease: two case reports and a review of the literature

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