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…Role of resting-state fMRI-based brain network modularity in differentiating SCA1 and SCA2
Objective: To ascertain the role of resting-state functional MRI (rsfMRI)-based modularity in differentiating spinocerebellar ataxia type 1 (SCA1) and spinocerebellar ataxia type 2 (SCA2). Background:…CerebNet: Deep learning cerebellar subsegmentation for fast and reliable atrophy quantification
Objective: Establish a fast and reliable automatic tool for cerebellar subsegmentation. Background: Quantifying the volume of the cerebellum and its lobes is of profound interest…Neuropathological profile of tauopathy in spinocerebellar ataxia type 8
Objective: The purpose of this study is to examine the distribution of tau pathology in brain regions of patients with spinocerebellar ataxia type 8 (SCA8).…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.…
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