A novel splicing mutation (c.870+3A>G) in SPG4 in a Korean family with hereditary spastic paraplegia.
J Neurol Sci
; 290(1-2): 186-9, 2010 Mar 15.
Article
em En
| MEDLINE
| ID: mdl-19939411
ABSTRACT
Hereditary spastic paraplegia (HSP) is a group of genetically heterogenous neurodegenerative disorders characterized by progressive spasticity and weakness of both lower extremities. Herein, we report a novel splicing mutation (c.870+3A>G) in SPG4 in a Korean family with an autosomal dominant-inherited pure HSP. The mutation is located in intron 5, and results in a deletion of the 188bp-sized exon 5. It is likely that the exon 5 deletion leads to spastin dysfunction and cause the typical symptoms and signs of patients.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Paraplegia Espástica Hereditária
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Adenosina Trifosfatases
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Predisposição Genética para Doença
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Mutação
Limite:
Female
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Humans
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Male
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Middle aged
País como assunto:
Asia
Idioma:
En
Ano de publicação:
2010
Tipo de documento:
Article