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

TitleNeuropathological Comparison of Adult Onset and Juvenile Huntington's Disease with Cerebellar Atrophy: A Report of a Father and Son.
Publication TypeJournal Article
Year of Publication2017
JournalJournal of Huntington's disease
Volume6
Issue4
Pagination337-348
Date Published2017
ISSN1879-6397
AbstractHuntington'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.
URLhttps://content.iospress.com/openurl?genre=article&id=doi:10.3233/JHD-170261
DOI10.3233/JHD-170261
PubMed Linkhttp://www.ncbi.nlm.nih.gov/pubmed/29036832?dopt=Abstract
Short TitleJ Huntingtons Dis