A new SPG4/SPAST mutation in an Italian family with hereditary spastic paraplegia and Alzheimer’s disease
Objective: To perform a clinical and a genetic study in an Italian family with a complicated form of hereditary spastic paraplegia (HSP) and Alzheimer’s disease…A new distinct spastic ataxia with hypomyelination: Clinical, neuroimaging and molecular expression of NKX6-2 mutations
Objective: To identify the phenotypic, neuroimaging and genotype-phenotype expression of NKX6-2 mutations. Background: Despite advances in genetic testing a large number of hyopomyelinating disorders remain…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…Loss of paraplegin drives spasticity rather than ataxia in SPG7: A European cohort analysis of 238 patients
Objective: The aim of this work was to delineate the clinical phenotype of SPG7 patients, integrating genetic data and follow-up examinations, taking advantage of a…Kufor-Rakeb syndrome and a rare ATP13A2 missense mutation in a Portuguese patient
Objective: To describe a genetically proven case of Kufor-Rakeb syndrome (KRS) in a young portuguese patient with juvenile parkinsonism. Background: Mutations in the ATP13A2 gene…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…
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