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…Levodopa-responsive hereditary spastic paraplegia, SPG35, due to FA2H mutations in siblings
Objective: To describe FA2H mutations, one novel, in siblings with SPG35 with symptoms responsive to levodopa. Background: Hereditary spastic paraplegia (HSP) is a phenotypically and…Bristle hair may point to hereditary spastic paraplegia type SPG35/ FAHN
Objective: Finding new phenotypic features or biomarkers in hereditary spastic paraplegia type SPG35 / Fatty Acid Hydroxylase-associated Neurodegeneration (FAHN) to help clinicians to identify this…A rare genetic transcriptomopathy syndrome involving TAF1 leading to insights into more common neurologic disorders, including X-linked dystonia-parkinsonism (XDP)
Objective: We set out to discover the genetic basis of an X-linked genetic syndrome presenting with global developmental delay, intellectual disability, characteristic facial dysmorphology, generalized…A novel phenotype associated with GRN mutations: Spastic ataxia
Objective: We report a patient with Spastic Ataxia caused by new homozygous mutations in the GRN gene. Background: The gene GRN located on chromosome 17…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…Clinical and genetic analyses in a cohort of the Taiwanese patients with apparently sporadic pure spastic paraplegia
Objective: To systemically screen some common spastic paraplegia genes (SPG) in the Taiwanese patients with apparently sporadic pure spastic paraplegia. Background: Hereditary spastic paraplegias (HSP)…Familial SPG17/distal hereditary motor neuropathy type V– Complicated hereditary spastic paraplegia with many faces
Objective: We present the clinical and genetic results of a SPG17 family with a vast intrafamilial phenotype from subclinical signs to a severe and rapidly…Development of the UK hereditary spastic paraplegia registry: Analysis of SPAST patients reveals high rate of psychiatric comorbidities
Objective: To (1) describe the genetic variability, phenotype and epidemiology of spastin mutation in HSP patients (2) create the UK HSP register with a focus…
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