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遗传性小脑萎缩（霍姆斯型）伴视神经萎缩：一个家族四代人的临床病理研究

Hereditary cerebellar atrophy (Holmes type) with optic atrophy: a clinico-pathological study of four generations in a family.

作者信息

Budka H, Seemann D, Danielczyk W

出版信息

Arch Psychiatr Nervenkr (1970). 1979 Apr 12;226(4):311-8. doi: 10.1007/BF00342243.

DOI:10.1007/BF00342243
PMID:454144
Abstract

A family with a dominantly inherited progressive cerebellar ataxia is described; four members of successive generations were affected. Neuropathological examination of one family member classified this disorder as hereditary cerebellar atrophy of Holmes type. An associated optic atrophy has not been previously reported in this disease.

摘要

本文描述了一个具有显性遗传的进行性小脑共济失调的家系；连续四代中有四名成员受影响。对一名家庭成员的神经病理学检查将这种疾病归类为霍姆斯型遗传性小脑萎缩。此前尚未报道过这种疾病伴有视神经萎缩。

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1
Hereditary cerebellar atrophy (Holmes type) with optic atrophy: a clinico-pathological study of four generations in a family.遗传性小脑萎缩（霍姆斯型）伴视神经萎缩：一个家族四代人的临床病理研究
Arch Psychiatr Nervenkr (1970). 1979 Apr 12;226(4):311-8. doi: 10.1007/BF00342243.
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本文引用的文献

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[On a late cerebellar atrophy of the hereditary and familial Marie-Foix-Alajouanine type with a clinically silent partial pallial atrophy].关于遗传性和家族性Marie-Foix-Alajouanine型迟发性小脑萎缩伴临床无症状的部分大脑皮质萎缩
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Late cortical cerebellar atrophy, a form of hereditary cerebellar ataxia.晚期皮质小脑萎缩，一种遗传性小脑共济失调的形式。
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Hereditary disease of the cerebellar parenchyma.
Birth Defects Orig Artic Ser. 1971 Feb;7(1):192-6.
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Optic and cochleovestibular degenerations in the hereditary ataxias. I. Clinico-pathological and genetic aspects.遗传性共济失调中的视神经和耳蜗前庭变性。I. 临床病理和遗传学方面。
Brain. 1974 Mar;97(1):15-40. doi: 10.1093/brain/97.1.15.
10
[Cerebellar ataxia in three generations with apparently dominant inheritance (author's transl)].三代人中呈明显显性遗传的小脑共济失调（作者译）
Wien Klin Wochenschr. 1976 Dec 10;88(23):762-4.