Leukodystrophy associated with oligodontia in a large inbred family:: Fortuitous association or new entity?

被引：30

作者：

Atrouni, S

Darazé, A

Tamraz, J

Cassia, A

Caillaud, C

Mégarbané, A

机构：

[1] Univ St Joseph, Fac Med, Unite Genet Med, Beirut, Lebanon

[2] Hop Makassed, Serv Neurol, Beirut, Lebanon

[3] Univ Libanaise, Fac Med Dentaire, Beirut, Lebanon

[4] Hotel Dieu France Beyrouth, Serv Imagerie Med, Beirut, Lebanon

[5] Hop Cochin, Biochim Genet Lab, F-75674 Paris, France

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2003年 / 118A卷 / 01期

关键词：

ataxia; autosomal recessive; leukodystrophy; MRI; oligodontia;

D O I：

10.1002/ajmg.a.10019

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a large inbred Syrian pedigree with an autosomal recessive neurodegenerative disorder. The clinical picture of the affected patients is oligodontia, and a degenerative neurological condition with onset around age 12, characterized by progressive ataxia and pyramidal syndrome. Abnormalities in the white matter and cortical atrophy were assessed by magnetic resonance imaging. Differential diagnosis and the possibility of a fortuitous association or the report of a hitherto unreported dento-leukoence-phalopathy are discussed. (C) 2003 Wiley-Liss, Inc.

引用

页码：76 / 81

页数：6

共 7 条

[1] THE INHERITED LEUKODYSTROPHIES - A CLINICAL OVERVIEW [J].