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…Characterization of cerebrospinal fluid profile in hereditary spastic paraparesis 10
Objective: Perform a comprehensive clinical characterization and biochemical cerebrospinal fluid (CSF) profile analyses in two Swedish families with hereditary spastic paraparesis 10 (SPG10) caused by…A case report of two siblings Aicardi-Goutières Syndrome type 2
Objective: To report two sisters with late diagnosis of Aicardi-Goutières Syndrome 2. Background: Aicardi-Goutières Syndrome (AGS) is a rare encephalopathy characterized by basal ganglia calcification,…Prevalence of Oropharyngeal Dysphagia in Hereditary Spastic Paraplegias
Objective: We aimed to assess the prevalence of swallowing disorder and to characterize the main clinical signs of dysphagia in genetically confirmed HSP patients. Background:…Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?
Objective: We aimed to characterize cognitive functions of patients with pure and complicated HSP, and to determine the frequency of abnormal cognitive performances in the…PEX 16: EXPANDING THE CLINICAL SPECTRUM OF PEROXISOMAL BIOGENESIS DISORDERS
Objective: IDENTIFICATION OF A NOVEL PEX 16 GENE MUTATION IN A YOUNG PATIENT WITH SLOWLY PROGRESSIVE ATAXIA AND SPASTICITY. Background: PEROXISOMAL BIOGENESIS DISORDERS(PBD) ARE CHARACTERIZED…Case Report: Co-occurrence of Motor Neuron Disease and Parkinsonism
Objective: Explore possible links between degenerative parkinsonism and motor neuron disease Background: A 50 year-old man developed with the cardinal features of parkinsonism. History was…
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