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Article

Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72.

JAMA neurology - 1 Jun 2014

Goldman Jill S, Quinzii Catarina, Dunning-Broadbent Jane, Waters Cheryl, Mitsumoto Hiroshi, Brannagan Thomas H, Cosentino Stephanie, Huey Edward D, Nagy Peter, Kuo Sheng-Han

Abstract excerpt

IMPORTANCE: Here we report a family with coexistence of multiple system atrophy (MSA) and amyotrophic lateral sclerosis (ALS) with hexanucleotide repeat expansions in C9orf72. OBSERVATIONS: A 65-year-old woman had a 2-year history of ataxia with autonomic dysfunction but without motor neuron signs. She was diagnosed as having MSA based on her clinical history and the hot cross bun sign on brain magnetic resonance...

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Identifiers

PMID: 24733620
DOI: 10.1001/jamaneurol.2013.5762
PMCID: PMC4051831

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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