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Article

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

28 Sept 2013

Abstract excerpt

OBJECTIVE: To identify the genetic cause of a syndrome causing cerebellar ataxia and eye movement abnormalities. METHODS: We identified 2 families with cerebellar ataxia, eye movement abnormalities, and global developmental delay. We performed genetic analyses including single nucleotide polymorphism genotyping, linkage analysis, array comparative genomic hybridization, quantitative PCR, and Sanger sequencing. We...

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PMID: 24078737
DOI: 10.1212/wnl.0b013e3182a841a3

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