Coexisting CACNA1A pathogenic variant and MJD expansion in the same family
Objective: Genetic investigation of a family with inherited cerebellar ataxia. Background: Despite the identification of an increasing number of genes causing dominant spinocerebellar ataxias (SCAs),…Vestibulo-Ocular Reflex Assessment in Patients with Sporadic Ataxia
Objective: To identify vestibular alterations in patients with sporadic ataxia (SA). Background: Sporadic ataxia (SA) is classified as a neurological condition characterized by adult onset,…Open-label pilot trial of citicoline for fragile X-associated tremor/ataxia syndrome (FXTAS)
Objective: To determine if citicoline was safe and effective for treatment of tremor and balance abnormalities and stabilization of cognitive decline in patients with FXTAS.…Slowly progressive anti-Ca/ARHGAP26 autoantibody-associated cerebellar ataxia over 27 years without immunosuppressive treatment
Objective: To discuss a slowly progressive case of anti-Ca/ARHGAP26 autoantibody-associated cerebellar ataxia. Background: Anti-Ca/ARHGAP26 autoantibody-associated cerebellar ataxia was first identified in 2010 (1). Since then,…Electrophysiological characteristics of tremor in spinocerebellar ataxia type12 (SCA-12) and essential tremor (ET)
Objective: The aim of the study was to describe electrophysiological features of tremor in SCA12 patients and to compare it with that in ET patients.…Treatment with docosahexaenoic acid in Spinocerebellar Ataxia 38
Objective: To evaluate the safety and efficacy of docosahexaenoic acid supplementation in patients with spinocerebellar ataxia 38 (SCA 38), on clinical symptoms and changes of…mGluR1 antibodies encephalitis: A rare cause of reversible ataxia and myoclonus syndrome
Objective: We wanted to report the case of a patient with severe subacute cerebellar ataxia related to mGluR1-antibodies with a clear improvement after immunomodulator treatment.…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…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…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.