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Cerebellar ataxia with spasmodic cough: a new form of dominant ataxia
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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.
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Contexto Educativo
Citação
Arch Neurol. 2006 Apr;63(4):553-5.
Editora
American Medical Association