Background Hereditary spastic paraplegia (HSP) is a rare genetic disorder associated with
mutations in> 80 loci designated SPG (SPastic parapleGia). The phenotypic spectrum of …

Background Familial hereditary spastic paraplegia (HSP)‐SPAST (SPG4) typically presents
with a pure HSP phenotype. Objective The aim of this study was to delineate the genotypic …

Hereditary spastic paraplegia is a genetically heterogeneous neurodegenerative disorder
characterised primarily by muscle stiffness in the lower limbs. Neurodegenerative disorders …

Background and purpose Microtubule defects are a common feature in several
neurodegenerative disorders, including hereditary spastic paraplegia. The most frequent …

Background Next‐generation sequencing‐based molecular assessment has benefited the
diagnosis of hereditary spastic paraplegia (HSP) subtypes. However, the clinical and …

Introduction Hereditary spastic paraplegias (HSPs) are a heterogeneous group of
neurodegenerative diseases in which little is known about the most appropriate clinical …

Objective Haploinsufficiency is widely accepted as the pathogenic mechanism of hereditary
spastic paraplegias type 4 (SPG4). However, there are some cases that cannot be explained …

Abstract Spastic paraplegia type 4 (SPG4), caused by SPAST mutations, is the most
predominant subtype of hereditary spastic paraplegia. Most documented SPG4 patients …

Background Hereditary or familial spastic paraplegias (SPG) comprise a group of genetically
and phenotypically heterogeneous diseases characterized by progressive degeneration of …