Aims The hereditary spastic paraplegias (HSPs) are a heterogeneous group of inherited
neurodegenerative disorders. Although, several genotype–phenotype studies have carried …

Hereditary spastic paraplegias (HSPs) are a diverse group of neurodegenerative diseases
that are characterized by axonopathy of the corticospinal motor neurons. A mutation in the …

Objective: To describe the clinical, genetic, and epidemiologic features of hereditary spastic
paraplegia (HSP) in Canada and to determine which clinical, radiologic, and genetic factors …

The Rad50 interacting protein 1 (Rint1) is a key player in vesicular trafficking between the
ER and Golgi apparatus. Biallelic variants in RINT1 cause infantile-onset episodic acute …

The AAA+ ATPase spastin remodels microtubule arrays through severing and its mutation is
the most common cause of hereditary spastic paraplegias (HSP). Polyglutamylation of the …

Background Spastic paraplegia type 4 (SPG4) is caused by mutations in the SPAST gene, is
the most common form of autosomal-dominant pure hereditary spastic paraplegias (HSP) …

Hereditary spastic paraplegia (HSP) is a heterogeneous group of neurodegenerative
diseases characterized by progressive weakness and spasticity of lower limbs. To clarify the …

Abstract Background Hereditary spastic paraplegias (HSPs) are a clinically and genetically
heterogeneous group of neurodegenerative diseases with progressive lower limb spasticity …

SPG31 is an autosomal dominant hereditary spastic paraplegia caused by pathogenic
variants in the receptor expression-enhancing protein 1 (REEP1) gene. We analyzed 488 …

Variants in the ATL1 gene have been repeatedly described as the second most frequent
cause of hereditary spastic paraplegia (HSP), a motor neuron disease manifested by …