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 inheritanceand 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
Background: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is cau...
Hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is one of the most common complica...
Mutations in the SPG4 gene are the most common causes of hereditary spastic paraplegia (HSP) account...
Hereditary spastic paraplegias (HSP) are a group of clinically and genetically diverse diseases char...
Hereditary spastic paraplegias are a heterogeneous group of chronic central motor system disorders, ...
International audienceThe hereditary spastic paraplegias (HSPs) are a clinically and genetically het...
Abstract Background Autosomal recessive hereditary spastic paraplegias (ARHSPs) are a group of clini...
Background and purpose: Hereditary spastic paraplegia is a clinically and genetically heterogeneous ...
Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurodegenerative...
Background/PurposeHereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous...
Abstract Background Hereditary spastic paraplegias (HSP) is a heterogeneous group of rare neurodegen...
The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clin...
<b><i>Background:</i></b> Hereditary spastic paraplegias constitute a heterogeneous group of inherit...
Abstract Objective Hereditary spastic paraplegia (HSP) due to ERLIN2 gene mutations was designated a...
BACKGROUND: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is cau...
Background: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is cau...
Hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is one of the most common complica...
Mutations in the SPG4 gene are the most common causes of hereditary spastic paraplegia (HSP) account...
Hereditary spastic paraplegias (HSP) are a group of clinically and genetically diverse diseases char...
Hereditary spastic paraplegias are a heterogeneous group of chronic central motor system disorders, ...
International audienceThe hereditary spastic paraplegias (HSPs) are a clinically and genetically het...
Abstract Background Autosomal recessive hereditary spastic paraplegias (ARHSPs) are a group of clini...
Background and purpose: Hereditary spastic paraplegia is a clinically and genetically heterogeneous ...
Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurodegenerative...
Background/PurposeHereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous...
Abstract Background Hereditary spastic paraplegias (HSP) is a heterogeneous group of rare neurodegen...
The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clin...
<b><i>Background:</i></b> Hereditary spastic paraplegias constitute a heterogeneous group of inherit...
Abstract Objective Hereditary spastic paraplegia (HSP) due to ERLIN2 gene mutations was designated a...
BACKGROUND: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is cau...
Background: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is cau...
Hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is one of the most common complica...
Mutations in the SPG4 gene are the most common causes of hereditary spastic paraplegia (HSP) account...