An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures.
Neurology
; 64(1): 142-4, 2005 Jan 11.
Article
em En
| MEDLINE
| ID: mdl-15642921
ABSTRACT
The authors describe three siblings born to consanguineous parents with early onset ataxia, dysarthria, myoclonic, generalized tonic clonic seizures, upward gaze palsy, extensor plantar reflexes, sensory neuropathy, and normal cognition. Direct screening excluded mutations in FRDA, TDP1,and SACS genes and at 8344, 3243, and 8993 positions of mitochondrial DNA. Linkage analysis excluded AOA-1, EPM1, EPM2A, EPM2B, CAMOS, and recessive ataxias linked to chromosome 9q34-9qter. This clinical constellation may represent a distinct form of early onset cerebellar ataxia.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Convulsões
/
Transtornos da Motilidade Ocular
/
Doenças do Nervo Oculomotor
/
Ataxia Cerebelar
/
Genes Recessivos
Limite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Neurology
Ano de publicação:
2005
Tipo de documento:
Article