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

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. Abnormaliti...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2003-04, Vol.118A (1), p.76-81
Main Authors: Atrouni, Salim, Darazé, Antoine, Tamraz, Jean, Cassia, Antoine, Caillaud, Catherine, Mégarbané, André
Format: Article
Language:English
Subjects:
Adolescent
Adult
Anodontia - diagnostic imaging
Anodontia - genetics
Anodontia - physiopathology
ataxia
autosomal recessive
Brain - pathology
Child
Female
Heredodegenerative Disorders, Nervous System - genetics
Heredodegenerative Disorders, Nervous System - physiopathology
Humans
leukodystrophy
Magnetic Resonance Imaging
Male
MRI
oligodontia
Pedigree
Radiography
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Summary: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‐leukoencephalopathy are discussed. © 2003 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.10019