Recessive ataxia with ocular apraxia - Review of 22 Portuguese patients

• Tipo: Artigo em Revista Científica Internacional
• Data: 2001

Autores

Barbot, C (Autor) Outra; Coutinho, P (Autor) Outra; Chorao, R (Autor) Outra; Ferreira, C (Autor) Outra; Jose Barros (Autor) Outra; Fineza, I (Autor) Outra; Dias, K (Autor) Outra; Monteiro, JP (Autor) Outra; Guimaraes, A (Autor) Outra; Mendonca, P (Autor) Outra; Moreira, MD (Autor) Outra; Sequeiros, J (Autor) ICBAS

Revista

Título: Archives of Neurology

Vol. 58

Páginas: 201-205

ISSN: 0003-9942

Editora: American Medical Association

Indexação

ISI Web of Knowledge - 61 Citações

Scopus - 87 Citações

Outras Informações

ID Authenticus: P-000-WEF

DOI: 10.1001/archneur.58.2.201

Abstract (EN): 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 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.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 5