Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly

被引：26

作者：

Aguglia, U

Gambardella, A

Breedveld, GJ

Oliveri, RL

Le Piane, E

Messina, D

Quattrone, A

Heutink, P

机构：

[1] Azienda Osped Bianchi Melacrino Morelli, Reg Epilepsy Ctr, Reggio Di Calabria, Italy

[2] Univ Magna Graecia Catanzaro, Inst Neurol, Catanzaro, Italy

[3] CNR, Inst Neurol Sci, Cosenza, Italy

[4] Erasmus Med Ctr, Dept Clin Genet, Rotterdam, Netherlands

[5] VU Univ Med Ctr, Dept Human Genet, Sect Med Genom, Amsterdam, Netherlands

来源：

NEUROLOGY | 2004年 / 62卷 / 09期

关键词：

D O I：

10.1212/01.WNL.0000123113.46672.68

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A large three-generation family with autosomal dominant type 1 porencephaly from southern Italy was studied. A high rate of miscarriages was observed. Of the nine affected individuals, four displayed a severe phenotype, and five had slight pyramidal signs or mild cognitive abnormalities. The MRI study disclosed unilateral porencephalic cyst, or colpocephaly. A genome-wide screen resulted in suggestive evidence for linkage to chromosome 13qter with a maximum logarithm-of-the-odds score of 3.16, from multipoint analysis, with marker D13S285.

引用

页码：1613 / 1615

页数：3

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