Autosomal Dominant Hereditary Spastic Paraplegia Relavant with a Novel Thr369Pro Mutation in SPAST Gene
Journal of the Korean Neurological Association
;
: 365-367, 2011.
Article
in Korean
| WPRIM
| ID: wpr-109587
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Spastic Paraplegia, Hereditary
/
Exons
/
Neurodegenerative Diseases
/
Mutation, Missense
/
Lower Extremity
/
Heterozygote
/
Muscle Spasticity
Limits:
Humans
Language:
Korean
Journal:
Journal of the Korean Neurological Association
Year:
2011
Type:
Article
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