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  • Title: Chorea Huntington: a rare case with childhood onset.
    Author: Gencik M, Hammans C, Strehl H, Wagner N, Epplen JT.
    Journal: Neuropediatrics; 2002 Apr; 33(2):90-2. PubMed ID: 12075490.
    Abstract:
    Chorea Huntington (CH) is a dominantly inherited, neurodegenerative disease usually with adult onset. The course of CH is characterized by movement disturbances, psychiatric symptoms and it may lead to dementia. Typically death occurs after 10 to 20 years of CH duration. Invariably, the underlying mutation concerns an expansion of a polymorphic (CAG) n stretch in the huntingtin gene. Statistically, larger expansions lead to earlier onset of the disease. We report on a girl with a huntingtin allele of > 140 (CAG) n repeats. Unspecific neurological symptoms were noted at the age of 4.3 years followed by rapid disease progression with psychomotor deterioration.
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