Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats

H. Ito, H. Kawakami, R. Wate, S. Matsumoto, T. Imai, A. Hirano, H. Kusaka

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)1479-1481
Number of pages3
JournalNeurology
Volume67
Issue number8
DOIs
StatePublished - Oct 1 2006

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ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Ito, H., Kawakami, H., Wate, R., Matsumoto, S., Imai, T., Hirano, A., & Kusaka, H. (2006). Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats. Neurology, 67(8), 1479-1481. https://doi.org/10.1212/01.wnl.0000240256.13633.7b