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…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…Comparative Measurement of Balance between Parkinson Disease and Spinocerebellar Ataxia – A Dynamic Posturography Study
Objective: This study is conducted to compare the balance impairment between Parkinson Disease in both OFF and ON state and Spinocerebellar Ataxia. Background: The dynamic…CEREBELLAR COGNITIVE AFFECTIVE SYNDROME IN SPINOCEREBELLAR ATAXIA TYPE 3
Objective: This preliminary study aims to examine whether motor and cognitive features in spinocerebellar ataxia type 3 (SCA3) are manifestations of a shared and parallel,…Theory of mind in patients with cerebellar neurodegenerative disorders
Objective: The aim of this study was to investigate theory of mind (ToM) in patients with different cerebellar neurodegenerative disorders (CD). Background: CD are a…
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