disease 866 words KG: ent-dise-e18a5ecf
Contents

Juvenile Huntington's Disease

Disease Info
InheritanceAutosomal dominant
CAG Repeat Threshold>60 repeats (classic JHD definition); sometimes >55 in broader definitions
Parental Origin~80% paternal (vs ~50% in adult HD)
AnticipationStrong; longer repeats expand more during spermatogenesis
Chromosome4p16.3 (HTT gene)
ProteinHuntingtin (3,142 amino acids)
DatabasesOMIMOrphanetClinicalTrialsPubMed

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