LIG1 polymorphism modifies the age at onset in patients with Spinocerebellar Ataxia type 2
Objective: Assessing the role of LIG1 Exon 6 A→C polymorphism acting as a modifier of clinical severity in patients with Spinocerebellar ataxia type 2 (SCA2).…Expanding the services of Neurogenetic Clinic – Lessons learnt from Cerebellar Ataxia cohort
Objective: We present an overview of patients seen by our Neurogenetic Clinic since 2019, focusing on the cerebellar ataxia (CA) cohort. Background: Diagnostic yield of…Cerebellar transcranial direct current stimulation in spinocerebellar ataxia type 3: a randomized, double-blind, sham-controlled trial
Objective: To investigate if a 2-week regimen comprising daily sessions of cerebellar anodal transcranial direct current stimulation (tDCS) 1) diminishes ataxia and non-motor symptom severity…Differential temporal dynamics of axial and appendicular ataxia in SCA3
Objective: To investigate the temporal dynamics of Scale for the Assessment and Rating of Ataxia (SARA) item scores in patients with spinocerebellar ataxia type 3…A novel platform for home-based, remotely supervised, transcranial direct current stimulation treatment and assessment for Cerebellar ataxia: A randomized, double-blind, sham-controlled, crossover, feasibility study
Objective: To evaluate the feasibility of home-based transcranial direct current stimulation (tDCS) for people with cerebellar ataxia (CA). Background: tDCS induces non-invasive cortical plasticity via…Late-onset cerebellar ataxia: case report of a new CNV on TTBK2 gene as possible cause of SCA-11
Objective: To describe a case of spinocerebellar ataxia type 11 caused by the copy number variant 43008859_43075833 on the TKKB2 gene Background: The spinocerebellar ataxias…Digital Sway Measures for Spinocerebellar Ataxia
Objective: The objective of the study was to investigate which postural sway condition and which measures are most sensitive to prodromal and manifest spinocerebellar ataxia…SCA5 – A new Cause of Parkinsonism?
Objective: To provide a description of a case of a young patient with atypical Parkinsonism with a mutation in SCA5. Background: While several scpinocerebellar ataxias…Data-driven model of dynamic biomarkers in SCA3 – from early pre-ataxic to late ataxic disease stages
Objective: The aim was to establish a data-driven model of dynamic biomarkers in SCA3 from the early pre-ataxic to the late ataxic disease stage. Background:…Cerebellar atrophy secondary to lithium intoxication : about 2 cases
Objective: To report two recent cases of cerebellar atrophy secondary to acute lithium intoxication during suicide attempts Background: Lithium salts have been used since the…
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