Publicação
Cerebellar ataxia with spasmodic cough: a new form of dominant ataxia
| dc.contributor.author | Coutinho, P. | |
| dc.contributor.author | Cruz, V. | |
| dc.contributor.author | Tuna, A. | |
| dc.contributor.author | Silva, S. | |
| dc.contributor.author | Guimarães, J. | |
| dc.date.accessioned | 2011-03-01T10:49:41Z | |
| dc.date.available | 2011-03-01T10:49:41Z | |
| dc.date.issued | 2006-07 | |
| dc.description.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. 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. | por |
| dc.description.sponsorship | Fundação para a Ciência e Tecnologia | por |
| dc.identifier.citation | Arch Neurol. 2006 Apr;63(4):553-5. | por |
| dc.identifier.issn | 0003-9942 | |
| dc.identifier.uri | http://hdl.handle.net/10400.16/535 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.publisher | American Medical Association | por |
| dc.relation.publisherversion | http://archneur.ama-assn.org/cgi/reprint/63/4/553 | por |
| dc.title | Cerebellar ataxia with spasmodic cough: a new form of dominant ataxia | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | United States of America | por |
| oaire.citation.endPage | 555 | por |
| oaire.citation.issue | 63(4) | por |
| oaire.citation.startPage | 553 | por |
| oaire.citation.title | Archives of Neurology | por |
| rcaap.rights | openAccess | por |
| rcaap.type | article | por |
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