Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.

Detalhes bibliográficos
Autor(a) principal: Barbot, C.
Data de Publicação: 2001
Outros Autores: Coutinho, P., Chorão, R., Ferreira, C., Barros, J., Fineza, I., Dias, K., Monteiro, J., Guimarães, A., Mendonça, P., Moreira, M., Sequeiros, J.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.16/718
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.
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spelling Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.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.American Medical AssociationRepositório Científico do Centro Hospitalar Universitário de Santo AntónioBarbot, C.Coutinho, P.Chorão, R.Ferreira, C.Barros, J.Fineza, I.Dias, K.Monteiro, J.Guimarães, A.Mendonça, P.Moreira, M.Sequeiros, J.2011-07-05T12:53:21Z2001-022001-02-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.16/718engArch Neurol. 2001 Feb;58(2):201-5.0003-9942info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-10-20T10:53:34Zoai:repositorio.chporto.pt:10400.16/718Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:37:05.031927Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.
title Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.
spellingShingle Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.
Barbot, C.
title_short Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.
title_full Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.
title_fullStr Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.
title_full_unstemmed Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.
title_sort Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.
author Barbot, C.
author_facet Barbot, C.
Coutinho, P.
Chorão, R.
Ferreira, C.
Barros, J.
Fineza, I.
Dias, K.
Monteiro, J.
Guimarães, A.
Mendonça, P.
Moreira, M.
Sequeiros, J.
author_role author
author2 Coutinho, P.
Chorão, R.
Ferreira, C.
Barros, J.
Fineza, I.
Dias, K.
Monteiro, J.
Guimarães, A.
Mendonça, P.
Moreira, M.
Sequeiros, J.
author2_role author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Centro Hospitalar Universitário de Santo António
dc.contributor.author.fl_str_mv Barbot, C.
Coutinho, P.
Chorão, R.
Ferreira, C.
Barros, J.
Fineza, I.
Dias, K.
Monteiro, J.
Guimarães, A.
Mendonça, P.
Moreira, M.
Sequeiros, J.
description 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.
publishDate 2001
dc.date.none.fl_str_mv 2001-02
2001-02-01T00:00:00Z
2011-07-05T12:53:21Z
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dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.16/718
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dc.relation.none.fl_str_mv Arch Neurol. 2001 Feb;58(2):201-5.
0003-9942
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dc.publisher.none.fl_str_mv American Medical Association
publisher.none.fl_str_mv American Medical Association
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instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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