Intergenerational instability and marked anticipation in SCA-17

被引：81

作者：

Maltecca, F

Filla, A

Castaldo, I

Coppola, G

Fragassi, NA

Carella, M

Bruni, A

Cocozza, S

Casari, G

Servadio, A

De Michele, G

机构：

[1] Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, Italy

[2] Univ Naples Federico II, Dept Mol & Cellular Biol & Pathol, Naples, Italy

[3] Univ Naples Federico II, CEOS, Naples, Italy

[4] Univ Naples Federico II, San Raffaele Sci Inst, DIBIT, Naples, Italy

[5] TIGEM, Naples, Italy

[6] Neurogenet Ctr, Lametia Terme, Italy

来源：

NEUROLOGY | 2003年 / 61卷 / 10期

关键词：

D O I：

10.1212/01.WNL.0000094123.09098.A0

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors describe an Italian family with autosomal dominant ataxia, dementia, psychiatric and extrapyramidal features, epilepsy, mild sensorimotor axonal neuropathy, and MRI findings of cerebral and cerebellar atrophy. A child had a distinctive presentation with onset at 3 years, growth retardation, fast progression, and early death. Molecular analysis demonstrated an expanded CAG/CAA repeat in the TBP gene (SCA-17). The repeat size was 66 triplets in the child and 53 in all the other patients.

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页码：1441 / 1443

页数：3

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