Background Hereditary spastic paraplegias (HSP) are of great clinical and genetic
heterogeneity. According to the clinical features, HSP can be divided into pure or …

Inherited disorders of spasticity or ataxia exist on a spectrum with overlapping causative
genes and phenotypes. We investigated the use of whole-genome sequencing (WGS) to …

Abstract Spastic paraplegia type 76 (SPG76) is a subtype of hereditary spastic paraplegia
(HSP) caused by calpain-1 (CAPN1) mutations. Our study described the phenotypic and …

Spastic ataxias are rare neurogenetic disorders involving spinocerebellar and pyramidal
tracts. Many genes are involved. Among them, CAPN1, when mutated, is responsible for a …

Aims and objective To characterize the phenotype of CAPN1 (SPG76) mutations in patients
diagnosed with hereditary spastic paraplegia (HSP). Background The CAPN1 gene, located …

Objective Recessive mutations in the CAPN1 gene have recently been identified in spastic
paraplegia 76 (SPG76), a complex hereditary spastic paraplegia (HSP) that is combined …

CAPN1 encodes calpain-1, a large subunit of μ-calpain, a calcium-activated cysteine
protease widely present in the central nervous system. Mutations in CAPN1 have recently …

Purpose SPG76 is one of the rare forms of hereditary spastic paraplegia (HSP) which
causes by mutations in the CAPN1 gene. The mode of inheritance of SPG76 is autosomal …

Abstract Background Hereditary Spastic Paraparesis (HSP) are a group of genetically
inherited disorders, clinically and genetically heterogenous and characterized by …

Background. Autosomal recessive hereditary spastic paraplegias (HSP) are a rare group of
hereditary neurodegenerative disorders characterized by spasticity with or without other …