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Ann Neurol. 2014 May;75(5):793-8. doi: 10.1002/ana.24164. Epub 2014 May 9.

UBQLN2 mutation causing heterogeneous X-linked dominant neurodegeneration.

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1
Department of Genetics, Harvard Medical School, Boston, MA.

Abstract

We report a 5-generation family with phenotypically diverse neurodegenerative disease including relentlessly progressive choreoathetoid movements, dysarthria, dysphagia, spastic paralysis, and behavioral dementia in descendants of a 67-year-old woman with amyotrophic lateral sclerosis. Disease onset varied with gender, occurring in male children and adult women. Exome sequence analyses revealed a novel mutation (c.1490C>T, p.P497L) in the ubiquilin-2 gene (UBQLN2) with X-linked inheritance in all studied affected individuals. As ubiquilin-2-positive inclusions were identified in brain, we suggest that mutant peptide predisposes to protein misfolding and accumulation. Our findings expand the spectrum of neurodegenerative phenotypes caused by UBQLN2 mutations.

PMID:
24771548
PMCID:
PMC4106259
DOI:
10.1002/ana.24164
[Indexed for MEDLINE]
Free PMC Article
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