Huntington's disease as caused by 34 CAG repeats.
Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by an abnormal expansion of a polymorphic stretch of CAG repeats in the coding 5' part of the HD gene on chromosome 4p. Expansions of CAG blocks beyond 35 repeats are associated with the clinical presentation of HD. There is an intermediate range of rare alleles between 27 and 35 CAG repeats with a higher risk for further expansion in subsequent generations. Here, we report a 75-year-old male with clinical features of HD and 34 CAG repeat units.
Andrich
Jürgen
J
Department of Neurology, St. Josef Hospital Bochum, Ruhr-University Bochum, Gudrunstr. 56, Bochum, Germany.
Arning
Larissa
L
Wieczorek
Stefan
S
Kraus
Peter H
PH
Gold
Ralf
R
Saft
Carsten
C
D000368:Aged; D001284:Atrophy; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002540:Cerebral Cortex / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D006816:Huntington Disease / Q000000981:diagnostic imaging / Q000235:genetics* / Q000523:psychology; D008297:Male; D011594:Psychometrics; D014057:Tomography, X-Ray Computed; D019680:Trinucleotide Repeat Expansion; D018911:Trinucleotide Repeats