Objective Hereditary spastic paraplegias (HSP s) are among the most genetically diverse
inherited neurological disorders, with over 70 disease loci identified (SPG 1‐71) to date …

Background and Objectives Hereditary spastic paraplegias (HSPs) are a group of inherited
rare neurologic disorders characterized by length-dependent degeneration of the …

Background The ITPR1 gene encodes the inositol 1, 4, 5‐trisphosphate (IP3) receptor type 1
(IP3R1), a critical player in cerebellar intracellular calcium signaling. Pathogenic missense …

Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous. Pure
forms are characterized primarily by progressive spasticity and weakness of the lower limbs …

Objective: 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 …

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

The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders
that are clinically classified as either pure with predominant lower limb spasticity, or complex …

Introduction Hereditary spastic paraplegias (HSP) are inherited disorders with progressive
spastic gait disturbance. Advances in genetic research have improved their diagnosis but …

Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous,
neurodegenerative movement disorder. A total of eight KIAA0196/strumpellin variants have …

Hereditary spastic paraplegias (HSPs), a group of neurodegenerative disorders that cause
progressive spasticity of the lower limbs, are characterized by clinical and genetic …