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…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…Clinical characterization and disease progression in spinocerebellar ataxia type 35: A case series
Objective: To characterize the clinical presentation and disease progression of patients with spinocerebellar ataxia type 35 (SCA35). Background: Mutations in TGM6 have been identified to…Amantadine Therapy for Ataxia Management in Patients with Spinocerebellar Ataxia Type 7
Objective: To report the therapeutic effects of amantadine in a patient with Spinocerebellar ataxia type 7 (SCA7) Background: Spinocerebellar ataxia type 7 is a rare…The use of Virtual Reality to Assess the Quality of Life in Patients with Spinocerebellar Ataxia
Objective: To assess independence, confidence and balance for development daily activities in patients with SCAs, before and after rehabilitation with virtual reality (ViR). Background: Spinocerebellar…Circadian rhythm alterations in an in vitro cellular model of Spinocerebellar ataxia type 17
Objective: To study in vitro expression of circadian rhythm genes (CLOCK, BMAL) in fibroblasts and neural cells of SCA17 patients. Background: Spinocerebellar Ataxia 17 (SCA17)…Sex-specific effect of ATXN2 rs7969300 polymorphism on age at onset in Spinocerebellar Ataxia type 2
Objective: To assess the influence of SNP rs7969300 within ATXN2 locus on the age of onset in patients with Spinocerebellar Ataxia type 2. Background: It…Survival estimates for Spinocerebellar Ataxia type 2 based on age at onset and CAG repeats length
Objective: To obtain survival estimates for SCA2 patients based on the age at onset and CAG repeats length . Background: Spinocerebellar ataxia type 2 (SCA2)…Two novel ANO10 mutations causing adult-onset autosomal recessive spinocerebellar ataxia
Objective: Clinical and genetic characterization of a patient Background: In recent years mutations more than 100 different genes have been shown to underlie spinocerebellar ataxias.…
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