title: Two in one: report of a patient with spinocerebellar ataxia types 2 and 10.
abstract: OBJECTIVE
  To report a rare case of the coexistence of 2 spinocerebellar ataxia (SCA) mutations in a single patient.
  
  
  METHODS
  Case report.
  
  
  METHODS
  University hospital, Movement Disorders Center.
  
  
  METHODS
  A 54-year-old man of Mexican, American Indian, and French descent with an 11-year history of gait and limb ataxia.
  
  
  METHODS
  Findings of clinical examination, magnetic resonance imaging, and video electroencephalographic monitoring.
  
  
  RESULTS
  Neurologic history revealed a gradually progressive gait and limb ataxia along with muscle cramps and sensory symptoms in his distal extremities; examination revealed executive dysfunction, dysarthria, ataxia, and sensory neuronopathy. Episodes of loss of awareness were reported, but electroencephalograms were negative. Brain imaging demonstrated severe cerebellar and brainstem atrophy. Genetic evaluation of the case revealed mutations in both the SCA2 and SCA10 genes.
  
  
  CONCLUSIONS
  Our patient has a unique combination of genetic mutations for 2 different SCAs, types 2 and 10, which to our knowledge, has not been previously reported. His clinical phenotype is largely consistent with SCA2, but his possible seizures and Mexican heritage suggest influences of SCA10.
authors.affiliation: Section of Parkinson Disease and Movement Disorders, Department of Neurological Sciences, Rush University Medical Center, 1725 W Harrison St, Ste 755, Chicago, IL 60612, USA.
authors.forename: Sachin S
authors.initials: SS
authors.lastname: Kapur
authors.forename: Jennifer G
authors.initials: JG
authors.lastname: Goldman
mesh_terms: D000067736:Ataxin-10; D000067528:Ataxins; D001921:Brain / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D020754:Spinocerebellar Ataxias / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology
chemical_list: C503889:ATXN10 protein, human; D000067736:Ataxin-10; D000067528:Ataxins; D009419:Nerve Tissue Proteins