Cerebellar ataxia with spasmodic cough: a new form of dominant ataxia

Arch Neurol. 2006 Apr;63(4):553-5. doi: 10.1001/archneur.63.4.553.


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.

Patients: 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Aged
  • Cerebellar Ataxia / epidemiology
  • Cerebellar Ataxia / genetics
  • Cerebellar Ataxia / physiopathology*
  • Cerebellum / metabolism
  • Cerebellum / pathology
  • Cerebellum / physiopathology
  • Comorbidity
  • Cough / epidemiology
  • Cough / genetics
  • Cough / physiopathology*
  • DNA Mutational Analysis
  • Female
  • Genes, Dominant*
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Health Surveys
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Portugal / epidemiology