Characterization of Gastric Mucosa Biopsies Reveals Alterations in Huntington's Disease.

Weight loss is an important complication of Huntington's disease (HD), however the mechanism for weight loss in HD is not entirely understood. Mutant huntingtin is expressed in the gastrointestinal (GI) tract and, in HD mice, mutant huntingtin inclusions are found within the enteric nervous system along the GI tract. A reduction of neuropeptides, decreased mucosal thickness and villus length, as well as gut motility impairment, have also been shown in HD mice.

The Prevalence of Juvenile Huntington's Disease: A Review of the Literature and Meta-Analysis.

Juvenile Huntington's disease (JHD) is usually defined as Huntington's disease with an onset ≤ 20 years. The proportion of JHD cases reported in studies of Huntington's disease (HD) varies. A review of the literature found 62 studies that reported the proportion of JHD cases amongst all HD cases.

Current Pharmacological Management in Juvenile Huntington's Disease.

Background: The clinical presentation of Juvenile Huntington's Disease (JHD) can be very different from adult-onset HD with little evidence to guide symptomatic management.

Aim: To survey the current use of pharmacological treatments for JHD.

Methods: Patients were identified through the HD Association, Hospital Doctors and the European Huntington's Disease Network REGISTRY study.

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

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 results from 121 laboratories across 15 countries. We report on 1326 duplicate results; a discrepancy in reporting the upper allele occurred in 51% of cases, this reduced to 13.