The first Indian patient with Hereditary Spastic Paraparesis type 42 due to a de novo SLC33A1 variant
Objective: Hereditary Spastic Paraparesis (HSP) 42 is an autosomal dominant HSP caused by pathogenic mutations in the SLC33A1 gene. This subtype has been reported from a…Argentine Translation and Adaptation of the Scale for the Assessment and Classification of Ataxia (SARA)
Objective: Translate and cross-culturally adapt this instrument into Spanish and to carry out a pilot test for its subsequent validation in this language. Background: Ataxias…Association of Early and late age of onset with Mitochondrial DNA haplogroup in Indian Spinocerebellar Ataxia type- 2 patients.
Objective: To explore the role of mtHaplogroups in early and late onset SCA2 patients. Background: An unstable expansion of a CAG tract in the ATXN2…Cerebellar volumetry in SCA1, SCA3, SCA6, MSA-C, and SAOA
Objective: We aim to identify volume differences in the cerebellum between spinocerebellar ataxia type 1 (SCA1), SCA3, SCA6, multiple-system atrophy, cerebellar type (MSA-C), and sporadic…Spinocerebellar Ataxia Autosomal Recessive Type 10 Misdiagnosed as a Multiple System Atrophy Type C: a Case Report.
Objective: Spinocerebellar ataxia autosomal recessive type 10 (SCAR 10) is a very rare cause of slowly progressive cerebellar ataxia caused by mutations of ANO10 gene…Expanding the clinical phenotype of ataxia associated with PMPCA mutations
Objective: To describe two probable cases of autosomal recessive ataxia associated with mutations in the PMPCA gene (ATX-PMPCA) secondary to novel compound heterozygous variants. Background:…Disease progression of spinocerebellar ataxia types 1, 2, 3, and 6 before and after ataxia onset: a joint analysis of two longitudinal cohort studies
Objective: The aim was to model the evolution of ataxia and neurological symptoms in SCA1, SCA2, SCA3, and SCA6 over the entire disease span and…Studies on mitochondrial dysfunction in the peripheral blood mononuclear cells in an ethnic Indian population of SCA 12 patients
Objective: We chose important mitochondrial genes such as ndufs5, tim22, fis1, dnm1l to understand the alterations in mitochondrial function in the peripheral blood mononuclear cells…Frequency of SCA 2, 3 and 7 in Slovak patients with spinocerebellar ataxia – first report of SCA2 patient from Slovakia
Objective: The aim of this study is to investigate the frequency of spinocerebellar ataxia (SCA) 2, 3 and 7 among Slovak patients with cerebellar ataxia…Diffusion Tensor Imaging of Spinocerebellar ataxia type 12 patients in comparison of Healthy control
Objective: To assess changes in brain tissue microstructures using diffusion tensor imaging parameters, fractional anisotropy (FA), increased radial (RD) and axial diffusivities (AD) in SCA…
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