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De novo partial deletion in GRID2 presenting with complicated spastic paraplegia

12 Oct 2013

Abstract excerpt

INTRODUCTION: Complex forms of spastic paraplegia (SPG) are rare and genetically heterogeneous. In apparently sporadic cases, analysis of known SPG genes often fails to reveal a mutation. METHODS: We report a 24-year-old patient with a syndrome of spastic paraplegia, ataxia, frontotemporal dementia, and lower motor neuron involvement. RESULTS: Screening of the patient's genome for copy number variation identified...

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PMID: 24122788
DOI: 10.1002/mus.24096

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