Background SPG11-linked hereditary spastic paraplegia is characterized by multisystem
neurodegeneration leading to a complex clinical and yet incurable phenotype of progressive …

Background To analyze the clinical phenotype of hereditary spastic paraplegia (HSP)
caused by SPG11 mutations (SPG11-HSP). Methods Among the 17 patients with sporadic …

SPG11 mutations are the major cause of autosomal recessive Hereditary Spastic
Paraplegia. The disease has a wide phenotypic variability indicating many regions of the …

Spastic paraplegia type 7 (SPG7), which represents one of the most common forms of
autosomal recessive spastic paraplegia (MIM# 607259), often manifests with a complicated …

Hereditary spastic paraplegias (HSP) are neurodegenerative diseases mainly characterized
by lower limb spasticity associated, in complicated forms, with additional neurological signs …

Background Mutations in SPG11 are the most frequent known cause of autosomal recessive
hereditary spastic paraplegia. Corpus callosum thinning is a hallmark of the condition but …

Objectives. To describe cognitive assessment including social cognition in SPG4 patients.
Methods. We reported a series of nine patients with SPG4 mutation with an extensive …

Objective The study aimed to investigate the functional alterations of spontaneous brain
activity in patients with spastic paraplegia type 4 (SPG4), and the relationship with the …

Hereditary spastic paraplegias (HSP) are a group of clinically and genetically
heterogeneous disorders with the hallmark of progressive spastic gait disturbance. We used …

Hereditary spastic paraplegias (HSP) share as cardinal feature progressive spastic gait
disorder. SPG4 accounts for about 25% of cases and is caused by mutations in the SPAST …