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

doi:10.1212/01.wnl.0000240256.13633.7b

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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32 Scopus citations

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 language	English (US)
Pages (from-to)	1479-1481
Number of pages	3
Journal	Neurology
Volume	67
Issue number	8
DOIs	https://doi.org/10.1212/01.wnl.0000240256.13633.7b
State	Published - Oct 2006
Externally published	Yes

ASJC Scopus subject areas

Clinical Neurology

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10.1212/01.wnl.0000240256.13633.7b

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title = "Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats",

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.",

author = "H. Ito and H. Kawakami and R. Wate and S. Matsumoto and T. Imai and A. Hirano and H. Kusaka",

note = "Funding Information: 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). ",

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language = "English (US)",

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T1 - Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats

AU - Ito, H.

AU - Kawakami, H.

AU - Wate, R.

AU - Matsumoto, S.

AU - Imai, T.

AU - Hirano, A.

AU - Kusaka, H.

N1 - Funding Information: 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).

PY - 2006/10

Y1 - 2006/10

N2 - 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.

AB - 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.

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

Abstract

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