Screening for SLC25A46 mutations in familial and sporadic ataxic patients
Objective: To identify possible mutations of the SLC25A46 gene in patients with various forms of ataxia. Background: Members of the solute carrier family 25 (SLC25)…Biochemical evaluation in patients with suspected ataxia related to CoQ10 deficiency
Objective: To investigate CoQ10 levels through skin fibroblasts in patients with suspected ataxia related to CoQ10 deficiency. Background: CoQ10 deficiency may cause complex forms of…STUB1/CHIP mutations cause Gordon Holmes syndrome as part of widespread multisystemic neurodegeneration: Evidence from novel mutations
Objective: (1) To provide phenotypic and imaging evidence for a widespread neurodegenerative process caused by mutations in CHIP, thus demonstrating a close clinical correspondence to…Huntington disease phenocopies or misdiagnosis: A black South African cohort
Objective: To investigate the occurrence of phenocopy mutations in a cohort of black South African individuals referred to the National Health Laboratory Service (NHLS) for…Fragile X-associated tremor/ataxia syndrome in two female patients
Objective: To report two cases of female patients with FXTAS. Background: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with core features of action…Repeat size and X-inactivation in the clinical phenotype of fragile X premutation carrier sisters: A familial case series
Objective: To describe the role of X-inactivation in clinically discordant phenotypes in sisters with a fragile X mental retardation 1 (FMR1) gene premutation but varying…Predominant motor neuron involvement in autosomal recessive SYNE1 ataxia
Objective: We here report on a novel SYNE1 mutation in an Austrian family extending the classical clinical phenotype in SYNE1 ataxia. Background: SYNE1 codes for…Co-occurrence of two triplet repeat associated SCA mutations: A dilemma in clinical diagnosis, prognosis and genetic counselling and clinical significance
Objective: To report clinical and genetic outcomes of rare combinatiorial triplet repeat expansion(TRE), SCA mutations in patients. Background: The presence of more than one TRE-SCA…Novel variants in the SACS gene in a first Central-Eastern European family with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
Objective: To present genetics, clinical description and natural history of the disease in four members of a Polish family with novel variants in the SACS…
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