Hereditary spastic paraplegia with SPG30 mutation: A report from North East China
- Author:
Chunkui Zhou
;
Lijun Zhu
;
Xinyuan Li
;
Heqian Du
;
Shanshan Dong
;
Qun Liu
;
Shaokuan Fang
- Publication Type:Case Reports
- Keywords:
Hereditary spastic paraplegia;
SPG30;
KIF1A
- From:Neurology Asia
2017;22(2):161-163
- CountryMalaysia
- Language:English
-
Abstract:
Hereditary spastic paraplegia is a heterogeneous group of genetic neurodegenerative disorders of the
nervous system. It is classified into four subtypes based on the mode of inheritance; and among them,
most autosomal recessive hereditary spastic paraplegia cases are due to type SPG11 and SPG15 gene
mutations. Autosomal recessive hereditary spastic paraplegia cases with SPG30 gene mutation have
never been reported in China. Herein, we present our experience with a case of hereditary spastic
paraplegia with SPG30 gene mutation in our hospital from North East China. In this patient we detected
a missense mutation of c.499 C>T (p.Arg167Cys) in gene KIF1A, a causative gene of type SPG30.
- Full text:W020170710345265416910.pdf
