title: Cerebellar ataxia with progressive improvement.
abstract: BACKGROUND
  Nonprogressive cerebellar ataxias are characterized by a persistent, nonprogressive ataxia associated with cognitive impairment. Cerebellar hypoplasia on imaging is variable but is not predictive of the degree of ataxia or cognitive impairment.
  
  
  OBJECTIVE
  To describe a family with a nonprogressive cerebellar ataxia associated with cognitive and motor impairments that improve with age.
  
  
  METHODS
  Genetic study in a family with nonprogressive cerebellar ataxia. Clinical and imaging features are also described.
  
  
  METHODS
  Community hospital.
  
  
  METHODS
  Both parents and 3 children from an affected family.
  
  
  METHODS
  Clinical features, magnetic resonance imaging findings, and genetic findings.
  
  
  RESULTS
  A genome-wide single nucleotide polymorphism screen did not show clear linkage to known spinocerebellar ataxia loci, in particular spinocerebellar ataxia type 15. Repeat spinocerebellar ataxia loci expansions were excluded. Magnetic resonance images of all affected individuals demonstrated cerebellar vermian abnormalities.
  
  
  CONCLUSIONS
  These findings suggest that nonprogressive cerebellar ataxia is genetically heterogeneous and, when associated with gradual improvement in cognition and motor skills, likely represents a separate, distinct clinical entity.
authors.affiliation: Department of Neurology, Uniformed Services University of the Health Sciences, 4301 Jones Bridge Road, Room A1036, Bethesda, MD 20814, USA. jtsao@usuhs.mil
authors.forename: Jack W
authors.initials: JW
authors.lastname: Tsao
authors.forename: Jason
authors.initials: J
authors.lastname: Neal
authors.forename: Kira
authors.initials: K
authors.lastname: Apse
authors.forename: Mark J
authors.initials: MJ
authors.lastname: Stephan
authors.forename: William B
authors.initials: WB
authors.lastname: Dobyns
authors.forename: Robert S
authors.initials: RS
authors.lastname: Hill
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Walsh
authors.forename: Volney L
authors.initials: VL
authors.lastname: Sheen
mesh_terms: D000328:Adult; D001284:Atrophy / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D002524:Cerebellar Ataxia / Q000235:genetics* / Q000503:physiopathology; D002531:Cerebellum / Q000473:pathology* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000235:genetics* / Q000503:physiopathology; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D020127:Recovery of Function / Q000235:genetics; D012075:Remission, Spontaneous; D019680:Trinucleotide Repeat Expansion / Q000235:genetics