title: Cerebellar ataxia with spasmodic cough: a new form of dominant ataxia.
abstract: BACKGROUND
  Although mentioned in most series, "pure" autosomal dominant cerebellar ataxias, except spinocerebellar ataxia type 6, are difficult to differentiate on clinical grounds.
  
  
  OBJECTIVE
  To describe Portuguese families with a peculiar pure form of dominant ataxia that, to our knowledge, has never been documented before and in which cerebellar signs are preceded by spasmodic cough.
  
  
  METHODS
  Through a population-based survey of hereditary ataxias in Portugal, we identified 19 patients in 6 families with this particular disorder.
  
  
  RESULTS
  The majority of patients had a pure late-onset ataxia with a benign evolution. In all of the families, attacks of spasmodic coughing preceded ataxia for 1 to 3 decades and were a reliable marker of the disease. In Portugal, this form of ataxia accounts for 2.7% of all of the dominant ataxias.
  
  
  CONCLUSIONS
  The families that we describe shared some relevant clinical and imagiological features with spinocerebellar ataxia type 5 and the recently described spinocerebellar ataxia type 20, allelic to spinocerebellar ataxia type 5. Spinocerebellar ataxia types 5 and 20 could be different phenotypic expressions of the same molecular disorder. The association of a dominant ataxia with spasmodic cough is rare but probably underdiagnosed.
authors.affiliation: UnIGENe, IBMC, Department of Neurology, Hospital de São Sebastião, Universidade do Porto, 4520-211 Santa Maria da Feira, Portugal. pcoutinho@hospitalfeira.min-saude.pt
authors.forename: Paula
authors.initials: P
authors.lastname: Coutinho
authors.forename: Vítor T
authors.initials: VT
authors.lastname: Cruz
authors.forename: Assunção
authors.initials: A
authors.lastname: Tuna
authors.forename: Sérgio E
authors.initials: SE
authors.lastname: Silva
authors.forename: João
authors.initials: J
authors.lastname: Guimarães
mesh_terms: D017668:Age of Onset; D000368:Aged; D002524:Cerebellar Ataxia / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology*; D002531:Cerebellum / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D015897:Comorbidity; D003371:Cough / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology*; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006306:Health Surveys; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D011174:Portugal / Q000453:epidemiology