Complicated hereditary spastic paraplegia like presentation of homozygous c.2222G>A mutation in PLA2G6
Objective: To describe three cases of complicated hereditary spastic paraplegia (cHSP) like presentation in PLA2G6. Background: PLA2G6-associated neurodegeneration (PLAN) is a complex group of neurodegenerative…MDSGene Systematic Review: Genotype-Phenotype Relations for Hereditary Spastic Paraplegia Genes SPAST, ATL1 & REEP1
Objective: To provide a comprehensive systematic review of the genotype-phenotype association in the most common three autosomal dominant genes of hereditary spastic paraplegia (HSP): SPAST,…Heterozygous mutation in CCDC88C gene as a cause of early onset pure hereditary spastic paraplegia
Objective: The objective of this study was to identify the molecular diagnosis of a Sudanese lady presenting with pyramidal signs and symptoms using whole exome…A C12orf65 mutation-related autosomal recessive hereditary spastic paraplegia is associated with autophagy induction
Objective: Spastic paraplegia type 55 (SPG55) is an autosomal recessive complicated HSP caused by homozygous mutation in the C12orf65 gene (613541) on chromosome 12q24. The…The Clinical, Molecular and Radiographic Spectrum of Adaptor Protein Complex 4-associated Hereditary Spastic Paraplegia (AP-4-HSP): Results from the AP-4-HSP International Registry
Objective: 1) To develop a registry and natural history study for AP-4-HSP; 2) to define core clinical and radiographic features; 3) to explore genotype-phenotype correlations.…Symptomatic treatment of hereditary spastic paraplegias with fampridine: a pilot study
Objective: Study the effect of fampridine in gait outcomes in patients with hereditary spastic paraplegia (HSP). Background: Fampridine acts through blockade of voltage-gated potassium channels,…Spastic ataxia and pseudo eye-of-the-tiger sign in a familiy with a novel compound heterozygous AFG3L2 mutations
Objective: Identify by exome sequencing (ES) the underlying etiology of spastic ataxia and pseudo eye-of-the-tiger sign (EOT) in 4 siblings. Background: The EOT is a…Spastic Paraplegia Type 64: a Case Series
Objective: to present four cases (two families) with a likely diagnosis of spastic paraplegia type 64 (SPG 64), broadening this disease phenotype. Background: SPG64 is…A novel p.Trp42Arg REEP1 mutation associated with autosomal recessive Distal spinal muscular atrophy with vocal cord and diaphragmatic paralysis
Objective: To present a patient with homozygous mutation in Receptor Expression-Enhancing Protein 1 (REEP1) gene manifesting a severe congenital Distal spinal muscular atrophy (SMA) with…The Genetic Basis of paediatric movement disorders: experience from the SYNaPS Study
Objective: To identify genetic causes of paediatric movement disorders in a large multi-ethnic cohort of patients by genetic investigations. Background: Pediatric movement disorders which are…
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