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NEUROLOGY 2006;67:1479-1481
© 2006 American Academy of Neurology
Brief Communications

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

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

From the Department of Neurology (H.I., R.W., H.K.), Kansai Medical University, Department of Neurology (S.M.), Kitano Hospital and Neurological Center, Osaka 530-0025, and Department of Neurology (T.I.), Shiroyama Hospital, Osaka, and Department of Epidemiology (H.K.), Research Institute for Radiation Biology and Medicine, Hiroshima University, Japan; and Division of Neuropathology (A.H.), Department of Pathology, Montefiore Medical Center, Bronx, NY.

Address correspondence and reprint requests to Dr. H. Ito, Department of Neurology, Kansai Medical University, 10-15, Fumizono-cho, Moriguchi, Osaka 570-8507, Japan; e-mail: itoh{at}takii.kmu.ac.jp

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.

Supported in part by a grant-in-aid for scientific research from the Japan Society for the Promotion of Science (no. 15590917) and by a grant from Kansai Medical University (research grant B, 2005).

Disclosure: The authors report no conflicts of interest.

Received January 31, 2006. Accepted in final form June 22, 2006






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