NDLI: Mutations in VLDLR as a Cause for Autosomal Recessive Cerebellar Ataxia with Mental Retardation (Dysequilibrium Syndrome)

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Mutations in VLDLR as a Cause for Autosomal Recessive Cerebellar Ataxia with Mental Retardation (Dysequilibrium Syndrome)

15q11.2-13 Duplication, Mitochondrial Dysfunction and Developmental Disorders

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Mutations in VLDLR as a Cause for Autosomal Recessive Cerebellar Ataxia with Mental Retardation (Dysequilibrium Syndrome)

Content Provider	PubMed Central
Author	Boycott, Kym M. Carsten, Bonnemann Herz, Joachim Stephanie, Neuert Beaulieu, Chandree Scott, James N. Venkatasubramanian, Anuradha Parboosingh, Jillian S.
Abstract	Dysequilibrium syndrome (DES) is a genetically heterogeneous condition that combines autosomal recessive, non-progressive cerebellar ataxia with mental retardation. Here we report the first patient heterozygous for two novel mutations in VLDLR. An 18-month old girl presented with significant hypotonia, global developmental delay, and truncal and peripheral ataxia. MR imaging of the brain demonstrated hypoplasia of the inferior cerebellar vermis and hemispheres, small pons, and a simplified cortical sulcation pattern. Sequence analysis of the VLDLR gene identified a nonsense and missense mutation. Six mutations in VLDLR have now been identified in five families with a phenotype characterized by moderate-to-profound mental retardation, delayed ambulation, truncal and peripheral ataxia and occasional seizures. Neuroanatomically, the loss-of-function effect of the different mutations is indistinguishable. VLDLR-associated cerebellar hypoplasia is emerging as a panethnic, clinically and molecularly well-defined genetic syndrome.
Related Links	http://dx.doi.org/10.1177/0883073809332696
Starting Page	1310
File Format	PDF
ISSN	17088283
e-ISSN	17088283
Journal	Journal of child neurology
Issue Number	10
Volume Number	24
Language	English
Publisher Date	2009-10-01
Access Restriction	Open
Subject Keyword	Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Neurology (clinical) Pediatrics, Perinatology and Child Health

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