Article
Purkinje cell loss in the cerebellar flocculus in patients with ataxia with ocular motor apraxia type 1/early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
European neurology - 1 Jan 2008
Sugawara Masashiro, Wada Chizu, Okawa Satoshi, Kobayashi Michio, Sageshima Masato, Imota Tsuyoshi, Toyoshima Itaru
Abstract excerpt
We genetically screened patients with ataxia with ocular motor apraxia type 1 (AOA1)/early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH), with a Japanese variant form of Friedreich's ataxia. Three patients were found to have a homozygous insertion mutation of the aprataxin gene (689insT). An elder sister of a patient in this series died of cerebral hemorrhage at the age of 45, and underwent...
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