Recessive ataxia with ocular apraxia - Review of 22 Portuguese patients

• Type: Article in International Scientific Journal
• Date: 2001

Authors

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

Journal

Title: Archives of Neurology

Vol. 58

Pages: 201-205

ISSN: 0003-9942

Publisher: American Medical Association

Indexing

ISI Web of Knowledge - 61 Citations

Scopus - 87 Citations

Other information

Authenticus ID: 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 5