title: Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72.
abstract: OBJECTIVE
  Here we report a family with coexistence of multiple system atrophy (MSA) and amyotrophic lateral sclerosis (ALS) with hexanucleotide repeat expansions in C9orf72.
  
  
  METHODS
  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 imaging. Her 62-year-old brother had progressive weakness, fasciculations, hyperreflexia, and active denervation on electromyography without cerebellar ataxia. He was diagnosed as having ALS. Both patients had a greater than 1000/2 hexanucleotide expansion in C9orf72.
  
  
  CONCLUSIONS
  Patients with hexanucleotide repeat expansions in C9orf72 can present with MSA as well as ALS or frontotemporal dementia. We report this family with coexisting MSA and ALS, highlighting the phenotypic variability in neurologic presentations with hexanucleotide repeat expansions in C9orf72.
authors.affiliation: Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York.
authors.forename: Jill S
authors.initials: JS
authors.lastname: Goldman
authors.affiliation: Department of Neurology, Columbia University, New York, New York.
authors.forename: Catarina
authors.initials: C
authors.lastname: Quinzii
authors.affiliation: Department of Pathology and Cell Biology, Columbia University, New York, New York.
authors.forename: Jane
authors.initials: J
authors.lastname: Dunning-Broadbent
authors.affiliation: Department of Neurology, Columbia University, New York, New York.
authors.forename: Cheryl
authors.initials: C
authors.lastname: Waters
authors.affiliation: Department of Neurology, Columbia University, New York, New York.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Mitsumoto
authors.affiliation: Department of Neurology, Columbia University, New York, New York.
authors.forename: Thomas H
authors.initials: TH
authors.lastname: Brannagan
authors.affiliation: Department of Neurology, Columbia University, New York, New York.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Cosentino
authors.affiliation: Department of Neurology, Columbia University, New York, New York3Department of Psychiatry, Columbia University, New York, New York.
authors.forename: Edward D
authors.initials: ED
authors.lastname: Huey
authors.affiliation: Department of Pathology and Cell Biology, Columbia University, New York, New York.
authors.forename: Peter
authors.initials: P
authors.lastname: Nagy
authors.affiliation: Department of Neurology, Columbia University, New York, New York.
authors.forename: Sheng-Han
authors.initials: SH
authors.lastname: Kuo
mesh_terms: D017668:Age of Onset; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D000073885:C9orf72 Protein; D042622:DNA Repeat Expansion / Q000235:genetics*; D057180:Frontotemporal Dementia / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D019578:Multiple System Atrophy / Q000150:complications / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011506:Proteins / Q000235:genetics*
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins
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