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Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions.

ABSTRACT: Multiple system atrophy (MSA) is a fatal neurodegenerative disorder of unknown etiology that presents with variable combinations of progressive ataxia, parkinsonism, and autonomic instability. Pathologic expansion of a hexanucleotide repeat in the C9orf72 gene has been demonstrated to cause neurodegeneration with diverse neurologic presentations. To test the hypothesis whether pathologic expansions in C9orf72 are a cause of MSA, we undertook genetic screening in 100 neuropathologically confirmed cases. No pathologic repeat expansions were detected suggesting that MSA is not a C9orf72-related neurodegenerative disease.

SUBMITTER: Scholz SW

PROVIDER: S-EPMC4315721 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature

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Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions.

Scholz Sonja W SW Majounie Elisa E Revesz Tamas T Holton Janice L JL Okun Michael S MS Houlden Henry H Singleton Andrew B AB

Neurobiology of aging 20140906 2

Multiple system atrophy (MSA) is a fatal neurodegenerative disorder of unknown etiology that presents with variable combinations of progressive ataxia, parkinsonism, and autonomic instability. Pathologic expansion of a hexanucleotide repeat in the C9orf72 gene has been demonstrated to cause neurodegeneration with diverse neurologic presentations. To test the hypothesis whether pathologic expansions in C9orf72 are a cause of MSA, we undertook genetic screening in 100 neuropathologically confirmed ...[more]

PMID: 25281017

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