Hereditary spastic paraplegia with SPG30 mutation: A report from North East China

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.