Clinical and genetic research in a large Ukrainian family with autosomal recessive hereditary spastic paraplegia
Objective: To perform a clinical and genetic analysis of a large Ukrainian pedigree emigrated in Italy with autosomal recessive hereditary spastic paraplegia (ARHSP). Background: HSPs…Intrafamilial phenotypic variability of spastic paraplegia type 7: A Case Report
Objective: To characterize the phenotypic variability of spastic paraplegia type 7 in a single family. Background: Spastic paraplegia type 7 (SPG7) is an autosomal recessive…Phenotype-genotype correlation in a case series from South Spain of Hereditary Spastic Paraplegia 7 (SPG7)
Objective: To describe the phenotype and genotype of patients with confirmed diagnosis of SPG7 Background: Coarelli et al described the possible correlation between genotype and…HSP-SPG5A/CYP7B1: unusual clinical and genetic characteristics in an Indian family
Objective: To carry out a clinical and genetic study of a large Indian family emigrated in Italy with autosomal dominant hereditary spastic paraplegia (ADHSP). Background:…SPG21 in Europe: Mutations outside the Amish community
Objective: We herein report two Austrian families harbouring mutations in the SPG21-gene. Background: SPG21 is a complicated, autosomal recessive hereditary spastic paraplegia. It presents with…Slowly progressive spastic paraplegia due to rare mitochondrial dysfunction: a clinical case
Objective: To present a case of spastic paraparesis associated to a rare mitochondrial disorder. Background: Metabolic disorders may have a clinical course overlapping common neurodegenerative…Pyramidal pathway changes at conventional brain 3T-MRI in patients with hereditary spastic paraplegia
Objective: Our aim was to evaluate the occurrence of motor cortex (MC) and cortico-spinal tract (CST) magnetic resonance imaging abnormalities in patients with hereditary spastic…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…
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