Autosomal Dominant Hereditary Spastic Paraplegia Relavant with a Novel Thr369Pro Mutation in SPAST Gene
Journal of the Korean Neurological Association
; : 365-367, 2011.
Article
em Ko
| WPRIM
| ID: wpr-109587
Biblioteca responsável:
WPRO
ABSTRACT
Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous neurodegenerative disorders that are characterized by progressive spasticity and weakness of both lower extremities. Here we report a novel missense mutation [c.1105A>C (p.Thr369Pro)] of SPG4 in a Korean family with an autosomal dominant-inherited pure HSP. The mutation is located in exon 8, and results in a heterozygote of the c.1105A>C mutation. It is likely that the mutation of exon 8 leads to spastin dysfunction and causes the typical symptoms and signs of HSP.
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Texto completo:
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Base de dados:
WPRIM
Assunto principal:
Paraplegia Espástica Hereditária
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Éxons
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Doenças Neurodegenerativas
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Mutação de Sentido Incorreto
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Extremidade Inferior
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Heterozigoto
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Espasticidade Muscular
Limite:
Humans
Idioma:
Ko
Ano de publicação:
2011
Tipo de documento:
Article