Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.
Muscle Nerve
; 41(2): 265-9, 2010 Feb.
Article
em En
| MEDLINE
| ID: mdl-19813183
ABSTRACT
Two siblings who developed fifth-decade-onset, concurrent progressive sensory ataxia, dysarthria, and ophthalmoparesis were found to be homozygous for the p.A467T mutation of the polymerase gamma (POLG) gene. The clinical course in both subjects was progression to severe disability. The enlarging spectrum of sensory ataxic neuropathies associated with mitochondrial DNA (mtDNA) instability and POLG mutations should be recognized and considered in the differential diagnosis of this unusual presentation.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Ataxia
/
Oftalmoplegia
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Irmãos
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DNA Polimerase Dirigida por DNA
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Disartria
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Homozigoto
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Mutação
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Female
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Humans
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Male
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Middle aged
Idioma:
En
Ano de publicação:
2010
Tipo de documento:
Article