Access the full text.
Sign up today, get DeepDyve free for 14 days.
Loading next page...
/lp/wiley/leukodystrophy-associated-with-oligodontia-in-a-large-inbred-family-z3h88RolmZ
References (7)
-
A. Gritli-Linde, Anders Linde, M. Goldberg (1995)
Morphological alterations in dental and periodontal tissues in murine mucopolysaccharidosis type VIICalcified Tissue International, 57
-
A. Bloch-Zupan, S. Lécolle, M. Goldberg (1994)
Galactosylceramide lipidosis (Krabbe's disease) and deciduous dental tissues. A case report.Journal of submicroscopic cytology and pathology, 26 3
-
F. Hanefeld, U. Holzbach, B. Kruse, E. Wilichowski, H. Christen, J. Frahm (1993)
Diffuse White Matter Disease in Three Children: An Encephalopathy with Unique Features on Magnetic Resonance Imaging and Proton Magnetic Resonance SpectroscopyNeuropediatrics, 24
-
J. Aicardi (1993)
The inherited leukodystrophies: A clinical overviewJournal of Inherited Metabolic Disease, 16
-
M. Goldberg, D. Septier, S. Lécolle, L. Vermelin, P. Bissila-Mapahou, J. Carreau, A. Gritli, A. Bloch-Zupan (1995)
Lipids in predentine and dentine.Connective tissue research, 33 1-3
-
M. Goldberg, A. Gritli, A. Bloch-Zupan, D. Septier, S. Lécolle, J. Legrand, J. Ruch (1993)
[Lysosomal storage diseases, genetic or drug-induced? effect of glycosaminoglycan and sphingolipid disorders on dental tissues].Comptes rendus des seances de la Societe de biologie et de ses filiales, 187 5
-
M. Harbord, J. Finn, M. Hall-Craggs, E. Brett, M. Baraitser (1989)
Early Onset Leukodystrophy with Distinct Facial Features in 2 SiblingsNeuropediatrics, 20
- Publisher
- Wiley
- Copyright
- Copyright © 2003 Wiley Subscription Services, Inc., A Wiley Company
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- DOI
- 10.1002/ajmg.a.10019
- pmid
- 12605447
- Publisher site
- See Article on Publisher Site
Abstract
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.
Journal
American Journal of Medical Genetics Part A – Wiley
Published: Jan 1, 2003
Keywords: ; ; ; ;