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Trinucleotide repeat length and rate of progression of Huntington's disease
Author(s) -
Illarioshkin Sergei N.,
Igarashi Shuichi,
Onodera Osamu,
Markova Elena D.,
Nikolskaya Natalya N.,
Tanaka Hajime,
Chabrashwili Tina Z.,
Insarova Nina G.,
Endo Kotaro,
IvanovaSmolenskaya Irina A.,
Tsuji Shoji
Publication year - 1994
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410360412
Subject(s) - huntington's disease , trinucleotide repeat expansion , disease , pathological , age of onset , medicine , biology , gene , genetics , allele
The Huntington's disease gene contains an expanded unstable (CAG) n repeat, and the repeat lengths have been shown to correlate with the age of onset. Using detailed clinical scales, we evaluated the rate of progression of Huntington's disease and its relationship to the number of triplet repeats. We found significant positive correlation between the rate of progression of clinical symptoms (both neurological and psychiatric) and CAG repeat length. These data suggest an important role of expanded trinucleotide repeat length in affecting the pathological process during the enitre course of Huntington's disease.