title: Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2 in a family with full CAG repeat expansions of ATXN2.
abstract: OBJECTIVE
  A family with coexistence of spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis (ALS) is described.
  
  
  METHODS
  Intermediate or full CAG repeat expansions of ATXN2 are associated with ALS. However, no coexistence of spinocerebellar ataxia type 2 and ALS in a family has been reported in the literature.We describe a 47-year-old woman with an 11-year history of ataxia and her paternal uncle with ALS who were evaluated at Columbia University Medical Center since July 2006. Both our patient with ataxia and her uncle with ALS have full pathological CAG repeat expansions of ATXN2.
  
  
  CONCLUSIONS
  The diverse clinical phenotypes of ATXN2 CAG expansions and their coexistence in a single family are highlighted. A clinician should consider the diagnosis of spinocerebellar ataxia type 2 when encountering a patient with ataxia and a family history of ALS.
authors: Sirinan
authors: S
authors: Tazen
authors: Karla
authors: K
authors: Figueroa
authors: Justin Y
authors: JY
authors: Kwan
authors: Jill
authors: J
authors: Goldman
authors: Ann
authors: A
authors: Hunt
authors: Jacinda
authors: J
authors: Sampson
authors: Laurie
authors: L
authors: Gutmann
authors: Stefan M
authors: SM
authors: Pulst
authors: Hiroshi
authors: H
authors: Mitsumoto
authors: Sheng-Han
authors: SH
authors: Kuo
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000150:complications / Q000235:genetics*; D000067528:Ataxins; D005192:Family Health; D005260:Female; D006801:Humans; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000150:complications / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: D000067528:Ataxins; D009419:Nerve Tissue Proteins
references: Nat Genet. 1996 Nov;14(3):269-76
references: 8896555
references: Neurobiol Aging. 2011 Oct;32(10):1925.e1-5
references: 21741123
references: Hum Genet. 2011 Oct;130(4):575-80
references: 21537950
references: Neurobiol Aging. 2012 Aug;33(8):1847.e15-21
references: 22425256
references: Hum Mol Genet. 2011 May 1;20(9):1697-700
references: 21292779
references: Acta Neuropathol. 2012 Aug;124(2):221-30
references: 22526021
references: J Neurosci. 2012 Jul 4;32(27):9133-42
references: 22764223
references: Hum Mol Genet. 2011 Aug 15;20(16):3207-12
references: 21610160
references: Arch Neurol. 2011 Jun;68(6):739-42
references: 21670397
references: J Mol Neurosci. 2011 Nov;45(3):676-83
references: 21660502
references: Nature. 2010 Aug 26;466(7310):1069-75
references: 20740007
references: Neurology. 2011 Jun 14;76(24):2066-72
references: 21562247
references: Neurology. 2011 Jun 7;76(23):2030-1
references: 21646631