Arg460Cys Mutation in SPAST Gene in Patients with Hereditary Spastic Paraplegia
Journal of the Korean Neurological Association
;
: 321-323, 2015.
Article
in Korean
| WPRIM
| ID: wpr-206096
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Paraplegia
/
Wills
/
Spastic Paraplegia, Hereditary
/
Reflex, Abnormal
/
Neurodegenerative Diseases
/
Mutation, Missense
/
Lower Extremity
/
Gait
/
Ankle
/
Muscle Spasticity
Limits:
Humans
Language:
Korean
Journal:
Journal of the Korean Neurological Association
Year:
2015
Type:
Article
Similar
MEDLINE
...
LILACS
LIS