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…A CASE REPORT OF EARLY-ONSET SPINOCEREBELLAR ATAXIA TYPE 35
Objective: To broaden diagnostic testing of likely genetic ataxias. Background: Spinocerebellar ataxia (SCA) refers to a heterogeneous group of degenerative genetic disorders which encompasses a…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…Therapies, Research Funding and Racial Diversity in Cerebellar Ataxia: A Systematic Review of the Literature
Objective: To understand the scope of clinical research in cerebellar ataxia by performing a systematic review of controlled clinical trials over the past 50 years,…Machine learning-based classification of SCA1, SCA2, and Healthy controls using graph features
Objective: To differentiate genetic variants of spinocerebellar ataxia (SCA1 and SCA2) and healthy controls using machine learning on resting-state functional Magnetic Resonance Imaging graph features.…Analyzing gait videos to identify and evaluate spinocerebellar ataxia types 1 and 3
Objective: To analyze videos of gait to: 1) identify spinocerebellar ataxia types 1 and 3, and 2) predict scores on the gait task section of…Spinocerebellar Ataxia Type 5: an Unusual Infantile Onset with Development Delay
Objective: Spinocerebellar Ataxia Type 5 (SCA5) is an uncommon cause of cerebellar ataxia with onset generally within the third and the fourth decade and a…Electrophysiology and clinical description of Tremor in Spinocerebellar Ataxia 12 (SCA12)
Objective: To describe the clinical and electrophysiological characteristics of tremor in SCA12. Background: There is scarcity of literature on tremor of SCA12 patients which is…Unravelling Hidden Mutations Behind the Heterozygos SYNE1 Genotype
Objective: To present case series of four patients of heterozygous for SYNE1 mutation with phenotype consistent with cerebellar ataxia. Background: Recessive cerebellar ataxias are defined as disorders with autosomal recessive…Diagnostic yield for point mutation related SCAs through exome sequencing for undetermined ataxias
Objective: To describe the diagnostic yield of whole exome sequencing (WES) to identify autosomal dominant spinocerebellar ataxias (SCAs) caused by point mutations. Background: There are…
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