Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.16/718
Título: Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.
Autor: Barbot, C.
Coutinho, P.
Chorão, R.
Ferreira, C.
Barros, J.
Fineza, I.
Dias, K.
Monteiro, J.
Guimarães, A.
Mendonça, P.
Moreira, M.
Sequeiros, J.
Data: Fev-2001
Editora: American Medical Association
Citação: Arch Neurol. 2001 Feb;58(2):201-5.
Resumo: 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.
Peer review: yes
URI: http://hdl.handle.net/10400.16/718
ISSN: 0003-9942
Versão do Editor: http://archneur.ama-assn.org/cgi/reprint/58/2/201
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