Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats.
We investigated a family manifesting progressive ataxia, with expanded SCA8 CTA/CTG repeats. Neuropathologically, degeneration of Purkinje, inferior olivary, and nigral neurons and periaqueductal gliosis were evident. The sites of Purkinje cell loss were occupied by fibrillary accumulations. The remaining Purkinje cells showed somatic sprouts, and intracytoplasmic 1C2-positive granular structures were recognizable. This characteristic distribution of neurodegeneration and Purkinje cell cytopathology were distinct from those of other hereditary spinocerebellar ataxias previously reported.
Ito
H
H
Department of Neurology, Kansai Medical University, 10-15, Fumizono-cho, Moriguchi, Osaka 570-8507, Japan. itoh@takii.kmu.ac.jp
Kawakami
H
H
Wate
R
R
Matsumoto
S
S
Imai
T
T
Hirano
A
A
Kusaka
H
H
D000328:Adult; D001921:Brain / Q000378:metabolism / Q000473:pathology; D017809:Fatal Outcome; D005838:Genotype; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016900:Neurofilament Proteins / Q000378:metabolism; D010766:Phosphorylation; D011689:Purkinje Cells / Q000473:pathology; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D013132:Spinocerebellar Degenerations / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D016708:Synaptophysin / Q000378:metabolism; D019680:Trinucleotide Repeat Expansion
C415906:ATXN8OS gene product, human; D009419:Nerve Tissue Proteins; D016900:Neurofilament Proteins; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D016708:Synaptophysin