Phenotype of PLP1-related disorder caused by novel mutation: a case report
Objective: To illustrate phenotype of PLP1-related disorder caused by a novel mutation. Background: Phenotypes of X-linked PLP1-related disorders vary from severe forms of hypomyelinating leukodystrophy-Pelizaeus–Merzbacher…Genotype-Phenotype correlations and expansion of the molecular spectrum of AP4M1-related Hereditary Spastic Paraplegia
Objective: To identify possible novel variants in a HSP family from Greece. Background: Autosomal recessive hereditary spastic paraplegia (HSP) due to AP4M1 mutations is a…Effect of Valproic Acid on Dystonia in a patient with Traumatic Brain Injury: a case report.
Objective: Valproic Acid, a branched short chain fatty acid, is widely used as an epileptic drug and mood stabilizer [1]. Its mechanism of action is…Hereditary spastic paraplegia type 31: a novel splice site donor mutation and intra-familial phenotypic variability
Objective: The aim of this study is to reveal molecular pathogenicity and genotype-phenotype correlations in Spastic Paraplegia type 31 (SPG31). Background: Mutations in REEP1 have…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…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 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…Novel variants in the SACS gene in a first Central-Eastern European family with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
Objective: To present genetics, clinical description and natural history of the disease in four members of a Polish family with novel variants in the SACS…Are we speaking the same language? A pilot study to evaluate the agreement in clinical phenotyping of children with cerebral palsy
Objective: The aim of this pilot study was determine the agreement of phenotypical classification of children with cerebral palsy among clinicians. Background: Cerebral palsy (CP)…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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