Whole Exome Sequencing Identifies a Homozygous POLG2 Missense Variant in an adult patient presenting with movement disorders and Mitochondrial DNA Depletion
Objective: To determine cause of disease in an adult patient with an undiagnosed chronic neurodegenerative disease. Background: POLG2 is a nuclear gene responsible for mtDNA…Two heterozygous SNYE1 mutations presenting as spasmodic adductor dysphonia, task-specific jaw dystonia, generalized dystonia, and ataxia in a Jamaican man
Objective: Expanding the phenotype of SYNE1 mutations to include dystonia with ataxia. Background: In 2007 mutations in the SYNE1 gene were found to cause a…Assessment of RADIAL, a tool for the diagnostic of autosomal recessive cerebellar ataxia: a prospective study
Objective: Our objective was to validate “RADIAL” ( Recessive Ataxias ranking differential DIagnosis Algorithm) for the diagnosis of Autosomal Recessive Cerebellar Ataxia (ARCA). Background: ARCA…Dystonia ataxia (DYTCA) syndrome with prominent handwriting deterioration associated with ADCK3 mutation: two new cases and an overview of the literature
Objective: To report two new patients with ADCK3 mutation presenting with writing deterioration as first sign of DYTCA syndrome. To provide an overview of clinical…Clinical characteristics of a family harbouring a novel CCDC88C mutation (SCA40)
Objective: We here report on clinical features and course of disease in a novel CCDC88C mutation causing spinocerebellar ataxia type 40 (SCA40). Background: SCA40 is…A novel homozygous splice site mutation in the KIF1C gene (SPAX2, SPG58) found in a consanguineous turkish family
Objective: We present clinical, electrophysiological and genomic data of a consanguineous family with two affected siblings suffering from spasticity and severe ataxia. Background: Mutations in…FXN and ATXN2 methylation profile in Friedreich’s ataxia and spinocerebellar ataxia type 2
Objective: To compare methylation profiles in frataxin (FXN) and ataxin-2 (ATXN2) genes in patients with spinocerebellar ataxia type 2 (SCA2), Friedreich’s ataxia (FA) and a…A Diagnostic Algorithm for Pediatric Early Onset Ataxia
Objective: To provide a clinical diagnostic algorithm for pediatric Early Onset Ataxia (EOA) that can contribute to an increased diagnostic yield. Background: In children, EOA…Transcriptional profiling of peripheral blood monocytes from child Friedreich’s ataxia patient: New molecules and patterns of gene expression
Objective: To explore peripheral biomarkers related to Friedreich's ataxia and identification of pathophysiological insights of complex phenotype Background: Friedreich's ataxia(FRDA) causes nervous system damage and…Loss of paraplegin drives spasticity rather than ataxia in SPG7: A European cohort analysis of 238 patients
Objective: The aim of this work was to delineate the clinical phenotype of SPG7 patients, integrating genetic data and follow-up examinations, taking advantage of a…
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