Compound-heterozygous mutations in VPS13D are a novel cause of spastic ataxia and lead to mitochondrial dysfunction
Objective: To identify the genetic cause in two sisters with spastic ataxia and to functionally characterize mitochondrial function in patient-derived cells. Background: Spastic ataxia is…Clinical and genetic heterogeneity in portuguese patients with Hereditary Spastic Paraplegia
Objective: To characterize the demographic, clinical and genetic features of HSP and to define the phenotypic spectrum and genotype-specific differences. Background: Hereditary spastic paraplegia (HSP)…A novel homozygous splice site mutation in the KIF1C gene (SPAX2, SPG58) found in a consanguineous turkish family
Objective: We present clinical, electrophysiological and genomic data of a consanguineous family with two affected siblings suffering from spasticity and severe ataxia. Background: Mutations in…Spastic paraplegia type 4: a novel SPAST splice site donor mutation and expansion of the phenotype variability
Objective: The aim of this study is to reveal molecular pathogenicity and genotype-phenotype correlations in spastic paraplegia type 4 (SPG4). Background: Mutations in SPG4/SPAST represent…Spasmodic Dysphonia in Hereditary Spastic Paraplegia Type 7
Objective: To describe a case of spasmodic dysphonia associated with hereditary spastic paraplegia (HSP) type 7. Background: HSP is a heterogeneous group of inherited disorders…SPG7 related spastic ataxia differs according to the presence of the A510V variant
Objective: To characterize phenotype-genotype correlation in patients with two SPG7 variants, supported by a post mortem study. Background: The SPG7 gene was the first identified…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…SPG7-related ataxia in the Irish National Ataxia Clinic cohort: case series
Objective: To present comprehensive clinical, optical coherence tomography (OCT) and genetic findings on SPG7 –related cohort attending the National Ataxia Clinic in Ireland. Background: Hereditary…CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia
Objective: To report a new family with combined spasticity and ataxia harboring mutations in the CAPN1 gene. Background: Hereditary spastic paraplegias (HSPs) are a heterogeneous group…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…
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