SPG4 is an autosomal dominant pure form of hereditary spastic paraplegia (HSP) caused by
mutations in the SPAST gene. HSP is considered an upper motor neuron disorder …

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

Background: Hereditary spastic paraplegias (HSP) are clinically and genetically highly
heterogeneous. Recently, two novel genes, SPG11 (spatacsin) and SPG15 (spastizin) …

Introduction Hereditary spastic paraplegias (HSP) include a clinically and genetically
heterogeneous group of conditions. Novel imaging modalities have been increasingly …

We identified a novel homozygous mutation in the splice site donor (SSD) of intron 30 (c.
5866+ 1G> A) in consanguineous Japanese SPG11 siblings showing late-onset spastic …

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 …

Background and purpose Non‐motor manifestations are frequently overlooked in
degenerative disorders and little is known about their frequency and clinical relevance in …

Spastic paraplegias (SPGs) are a group of clinically and genetically heterogeneous
neurodegenerative diseases. Mutations in 78 genes have been identified in autosomal …

Background SPG4 is a subtype of hereditary spastic paraplegia (HSP), an upper motor
neuron disorder characterized by axonal degeneration of the corticospinal tracts and the …

Hereditary spastic paraplegia (HSP) is a genetically heterogeneous group of
neurodegenerative disorders characterized by progressive lower extremity weakness and …