SCA17 homozygote showing Huntington's disease-like phenotype.
We report a homozygous case of spinocerebellar ataxia type 17 with 48 glutamines. The age of the patient at disease onset was not lower than those of heterozygotes with the same CAG-repeat sizes, but the clinical manifestations were rapidly progressive dementia and chorea. Neuronal loss was relatively restricted and most prominent in the Purkinje cell layer and striatum; however, intranuclear neuronal polyglutamine accumulation was widespread, with a high frequency in the cerebral cortex and striatum.
Toyoshima
Yasuko
Y
Department of Pathology, Brain Research Institute, Niigata University, Niigata, Japan. yasuko@bri.niigata-u.ac.jp
Yamada
Mitsunori
M
Onodera
Osamu
O
Shimohata
Mitsuteru
M
Inenaga
Chikanori
C
Fujita
Nobuya
N
Morita
Masahiro
M
Tsuji
Shoji
S
Takahashi
Hitoshi
H
D000328:Adult; D017668:Age of Onset; D015153:Blotting, Western; D001921:Brain / Q000473:pathology*; D005260:Female; D006720:Homozygote; D006801:Humans; D007150:Immunohistochemistry; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D035181:TATA-Box Binding Protein / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion
D035181:TATA-Box Binding Protein