Rare ADCY6 variants in two families with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS)
Objective: To reveal a genetic cause for a syndrome of combined cerebellar ataxia, neuropathy and vestibular areflexia (CANVAS). Background: CANVAS is a clinically defined neurological…Clinical and Molecular Characterization of a Family with Ataxia with Oculomotor Apraxia Type 2
Objective: To describe a consanguineous family with ataxia with oculomotor apraxia, type II (AOA2). Background: AOA2 is an autosomal recessive neurodegenerative syndrome leading to progressive…Changes detected in swallowing function in Friedreich ataxia over 12 months
Objective: To determine if changes in swallowing function are detectable over 12 months in Friedreich ataxia Background: Dysphagia (swallowing impairment) is present in 98% of…Identification of modifiers of the age of onset variance and disease progression in a Dutch cohort of Machado-Joseph disease patients
Objective: In this project, we aim to establish correlations between the length of the CAGexp, AO, and disease progression based on International Cooperative Ataxia Rating…Gluten sensitivity in progressive cerebellar ataxia patients from India
Objective: To screened a well-defined cohort of patients with cerebellar ataxia for the presence of gluten sensitivity. Background: Cerebellar ataxia is a heterogeneous group of…Novel CACNA1A gene mutation in a Taiwan family with episodic ataxia type 2
Objective: To illustrate a family of episodic ataxia type 2 with atypical presentations and a novel mutation of CACNA1A gene Background: The episodic ataxias (EAs)…A clinical and pathological study of small fibers in Friedreich´s Ataxia
Objective: To investigate the small fibers pathology in Friedreich´s Ataxia (FRDA). Background: FRDA is an inherited movement disorder caused by homozygous GAA expansions in the…Ataxia and cerebellar atrophy in Charcot-Marie-Tooth neuropathy type 4C
Objective: To evaluate for the presence of ataxia and cerebellar atrophy in a cohort of Charcot-Marie-Tooth neuropathy type 4C (CMT4C) patients. Two of these patients…Dissociative effects of thyrotropin releasing hormone on classical cerebellar ataxic signs and cerebellar adaptation in patients with spinocerebellar degeneration
Objective: To reveal effects of TRH [Thyrotropin releasing hormone (protirelin tartrate)] on the prism adaptation task in patients with spinocerebellar degeneration (SCD). Background: The cerebellum…Case of Friedreich’s ataxia with extremely large repeat expansion without systemic disease
Objective: To describe a case of Friedreich’s ataxia with >1700 GAA repeats but no systemic manifestations despite long disease course. Background: Fredrich’s ataxia (FA) is…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.