A clinico-genetical study in a large cohort of patients with spastic paraplegia type 4 (SPG4)
Objective: This study includes the evaluation of a comprehensive spectrum of neurological features and the mutational screening of the SPG4/SPAST gene in patients with hereditary…A homozygous loss-of-function mutation in DNAJA3 causes hereditary motor and sensory neuropathy with spastic paraplegia (HMSN type V)
Objective: To identify a genetic cause for hereditary motor and sensory neuropathy with spastic paraplegia (HMSN type V). Background: Hereditary spastic paraplegia (HSP) constitutes a…Spastic gait and mechanical energy recovery in children with hereditary spastic paraplegia
Objective: We aimed to address spastic muscle behavior under dynamic conditions in children with hereditary spastic paraplegia (HSP). Background: HSPs are a clinically and genetically…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.