Arg460Cys Mutation in SPAST Gene in Patients with Hereditary Spastic Paraplegia
Journal of the Korean Neurological Association
; : 321-323, 2015.
Article
en Ko
| WPRIM
| ID: wpr-206096
Biblioteca responsable:
WPRO
ABSTRACT
Hereditary spastic paraplegia is a group of genetically and clinically heterogeneous neurodegenerative disorder characterized by progressive lower extremity weakness and spasticity. A 49-year-old man presented with progressive gait disturbance. Neurological examination showed spasticity, hyperreflexia in lower extremity and bilateral ankle clonus. He had a family history consistent with autosomal dominant inheritance. Gene testing revealed a heterozygous missense mutation (c.1378C>T [p.Arg460Cys]) in SPAST gene. We report a first Korean family with Arg460Cys mutation in SPAST gene.
Palabras clave
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Paraplejía
/
Testamentos
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Paraplejía Espástica Hereditaria
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Reflejo Anormal
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Enfermedades Neurodegenerativas
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Mutación Missense
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Extremidad Inferior
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Marcha
/
Tobillo
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Espasticidad Muscular
Límite:
Humans
Idioma:
Ko
Revista:
Journal of the Korean Neurological Association
Año:
2015
Tipo del documento:
Article