Journal
JOURNAL OF CHILD NEUROLOGY
Volume 24, Issue 10, Pages 1310-1315Publisher
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073809332696
Keywords
VLDLR; cerebellar hypoplasia; dysequilibrium syndrome
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Funding
- Alberta Children's Hospital Foundation
- National Institutes of Health [HL20498, HL63792]
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Dysequilibrium syndrome is a genetically heterogeneous condition that combines autosomal recessive, nonprogressive cerebellar ataxia with mental retardation. Here, we report the first patient heterozygous for 2 novel mutations in VLDLR. An 18-month-old girl presented with significant hypotonia, global developmental delay, and truncal and peripheral ataxia. Magnetic resonance 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 5 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.
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