Atypical, Late Presentation of Juvenile Huntington Disease: Cognitive Impairment, Dementia and Tremors.
Journal Title: IOSR Journal of Dental and Medical Sciences (IOSR-JDMS) - Year 2017, Vol 16, Issue 10
Abstract
Introduction: Huntington’s disease (HD) is a dominantly progressive, inherited neurodegenerative disorder characterized clinically by a combination of abnormal involuntary movements mainly chorea, neuropsychiatric manifestations, and dementia. It is caused by an unstable CAG repeat expansion in the gene IT15 which encodes a Huntingtin protein. The characteristics of Juvenile Huntington’s Disease (JHD) differ from those of adult‑ onset HD, as chorea does not occur in JHD although bradykinesia, dystonia, and signs of cerebellar disorder such as rigidity are present frequently in association with convulsive episodes and psychotic manifestation. Case report: A 25 years old male was admitted with major complains of tremor, depression and dementia. Findings: History, clinical examination and laboratory findings suggestive of JHD, a form of HD. A diagnosis was confirmed by contrast enhanced magnetic resonance imaging of brain and Huntington Disease-DNA PCR. Conclusion: Tremor is an uncommon initial presentation of Huntington disease and Juvenile Huntington ’s disease.
Authors and Affiliations
Dr. Manjiri Naik, Dr. Vinit Sarode, Dr. Suraj Vyawahare, Dr. Sushant Yadav, Dr. Gaurav Tamboli, Dr Sachin Chate
Keywords
Related Articles
- EP ID EP243625
- DOI 10.9790/0853-1610050912
- Views 70
- Downloads 0
Smoking & Implant Failure: An Evidence Based Review
The purpose of this review article is to collect the published data concerning factors affecting Osseointegration in smokers. Osseointegration refers to a direct structural and functional connection between bone & implan...
Spectrum and Prevalence of degenerative changes seen on Mri of Lumbosacral Spine in Patients with Low Back Pain
Low back pain (LBP) is the most prevalent musculoskeletal condition and one of the most common causes of disability. In a report of World Health Organization in 2002, LBP constituted 37% of all occupational risk factors...
Temporomandibular Disorders its Signs and Symptoms and Prevalence in Dental Students
Aim and Objective: The objective of this study was to investigate the prevalence of signs and symptoms of temporomandibular disorders (TMDs) in dental students. Materials and methods: A total of 100 dental students, at P...
Comparative Study of Intravaginal Misoprostol (Pge1) And Intracervical Dinoprostone (Pge2) for Induction of Labour in Premature Rupture of Membranes (Prom) At Term.
Comparative study of intravaginal misoprostol and intracervical Dinoprostone for induction of labour in Premature rupture of membranes at term. This is a prospective observational study done during Feb 2015 to Jan 2016....
A clinical study on branchial arch anomalies
Objectives: To analyse retrospectively the data of our patients, who were diagnosed and treated for branchial anomalies in our department. Materials and Methods: Retrospective descriptive study over a period of 1 year 6...