Publication
Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.
| dc.contributor.author | Barbot, C. | |
| dc.contributor.author | Coutinho, P. | |
| dc.contributor.author | Chorão, R. | |
| dc.contributor.author | Ferreira, C. | |
| dc.contributor.author | Barros, J. | |
| dc.contributor.author | Fineza, I. | |
| dc.contributor.author | Dias, K. | |
| dc.contributor.author | Monteiro, J. | |
| dc.contributor.author | Guimarães, A. | |
| dc.contributor.author | Mendonça, P. | |
| dc.contributor.author | Moreira, M. | |
| dc.contributor.author | Sequeiros, J. | |
| dc.date.accessioned | 2011-07-05T12:53:21Z | |
| dc.date.available | 2011-07-05T12:53:21Z | |
| dc.date.issued | 2001-02 | |
| dc.description.abstract | Abstract BACKGROUND: The recessive ataxias are a heterogeneous group of neurodegenerative disorders characterized by cerebellar ataxia associated with a number of different neurologic, ophthalmologic, or general signs. They are often difficult to classify in clinical terms, except for Friedreich ataxia, ataxia-telangiectasia, and a relatively small group of rare conditions for which the molecular basis has already been defined. OBJECTIVES: To study the clinical presentation and to define diagnostic criteria in a group of Portuguese patients with ataxia and ocular apraxia, an autosomal recessive form without the essential clinical and laboratory features of ataxia-telangiectasia. PATIENTS AND METHODS: We reviewed 22 patients in 11 kindreds, identified through a systematic survey of hereditary ataxias being conducted in Portugal. RESULTS: Age at onset ranged from 1 to 15 years, with a mean of 4.7 years. The duration of symptoms at the time of last examination varied from 5 to 58 years. All patients presented with progressive cerebellar ataxia, the characteristic ocular apraxia, and a peripheral neuropathy. Associated neurologic signs included dystonia, scoliosis, and pes cavus. Magnetic resonance imaging was performed in 16 patients, all of whom showed cerebellar atrophy. CONCLUSIONS: Ataxia with ocular apraxia may be more frequent than postulated before, and may be identified clinically using the following criteria: (1) autosomal recessive transmission; (2) early onset (for most patients in early childhood); (3) combination of cerebellar ataxia, ocular apraxia, and early areflexia, with later appearance of the full picture of peripheral neuropathy; (4) absence of mental retardation, telangiectasia, and immunodeficiency; and (5) the possibility of a long survival, although with severe motor handicap. | por |
| dc.identifier.citation | Arch Neurol. 2001 Feb;58(2):201-5. | por |
| dc.identifier.issn | 0003-9942 | |
| dc.identifier.uri | http://hdl.handle.net/10400.16/718 | |
| 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/58/2/201 | por |
| dc.title | Recessive ataxia with ocular apraxia: review of 22 Portuguese patients. | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Chicago, USA | por |
| oaire.citation.endPage | 205 | por |
| oaire.citation.issue | 58 (2) | por |
| oaire.citation.startPage | 201 | por |
| oaire.citation.title | Archives of neurology | por |
| rcaap.rights | openAccess | por |
| rcaap.type | article | por |