Background: Autosomal recessive hereditary spastic paraplegia with thin corpus callosum is
a neurodegenerative disorder characterized by spastic paraparesis, cognitive impairment …

Background: The aim of this study was to describe a case of hereditary spastic paraplegia
(HSP) resulting from SPG 11 mutations, presenting with a complex phenotype of dopa …

Background: Molecular imaging has proven to be a powerful tool to elucidate degenerated
paths in a wide variety of neurological diseases and has not been systematically studied in …

Background Although the typical inheritance of spastic paraplegia 7 is recessive, several
reports have suggested that SPG7 variants may also cause autosomal dominant hereditary …

A novel SPG4 906delT frame‐shift mutation in exon 6 was identified in a large Italian family
with an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Intrafamilial …

We describe a Japanese family in which inheritance of a novel mutation p. A100T in SPG6
resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical …

Hereditary spastic paraplegias (HSP) are genetically and clinically heterogeneous
neurodegenerative disorders. The purpose of this study was to assess the genotype and …

Background Spastic paraplegia type 7 (SPG7) mutations can present either as a pure form
or a complex phenotype with movement disorders. Objective Describe the main features of …

Biallelic mutations in AP5Z1 are known to cause a rare, autosomal-recessive, complex form
of hereditary spastic paraplegia (HSP) referred to as SPG48 (MIM# 613647). 1 To date, only …

BACKGROUND: Hereditary spastic paraplegia is a clinically and genetically heterogeneous
neurodegenerative disorder characterized by progressive spasticity of the lower limbs …