Targeting the intracellular localization of Ataxin-3 as novel treatment strategy for Spinocerebellar Ataxia Type 3
Objective: Spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) is an autosomal-dominantly inherited neurodegenerative disorder caused by a CAG expansion in the ATXN3 gene…Movement Disorders and Clinical Progression in Spinocerebellar Ataxias
Objective: To study the prevalence and influence of movement disorder signs in SCAs. Background: Movement disorders are common features in spinocerebellar ataxias (SCAs) but their…The autonomic nervous system in Friedreich´s Ataxia: preliminary findings
Objective: To investigate the autonomic function in Friedreich´s ataxia (FRDA) Background: FRDA is a hereditary neurodegenerative disorder characterized by progressive gait ataxia, limb dysmetria, dysarthria…Early diagnosis in Spinocerebellar Ataxias: Prospects for clinical alterations and ethical dilemmas during preclinical trials.
Objective: To assess the acceptation level and ethical concerns for participating in early intervention approaches in Spinocerebellar Ataxia type 2 preclinical carriers and to evaluate…Is the cerebellum a good target for neuromodulation in movement disorders?
Objective: To assess the effects of dentate nucleus transcranial magnetic stimulation and deep brain stimulation on patients with cerebellar ataxia of different etiologies. Background: Cerebellar…How do ataxias with oculomotor apraxia look and look like? A comparative controlled multimodal study of AT, AOA1 and AOA2 focusing on video-oculography.
Objective: To perform a multimodal comparison of AT, AOA1 and AOA2 focusing on video-oculography. Background: Autosomal recessive cerebellar ataxias (ARCAs) are heterogeneous disabling inherited neurodegenerative…Living with Ataxia in Ireland 2016–a nationwide survey of 130 Irish patients with inherited Ataxia
Objective: To collect real-life data from a large cohort of patients with inherited ataxia in Ireland, with special attention to the individual ataxia-related healthcare resources…The spectrum of composite autonomic severity score in SCA1, SCA2 and SCA3 patients
Objective: To analyze composite autonomic severity score in patients of spinocerebellar ataxia types 1, 2 and 3. Background: Spinocerebellar ataxia (SCA) is a progressive neurodegenerative…Effectiveness of Deep Brain Stimulation (DBS) in Mice with Spinocerebellar Ataxia (SCA1).
Objective: To evaluate the effectiveness of Deep Brain Stimulation (DBS) in a mouse model of Spinocerebellar Ataxia type 1 (SCA1). Background: Spinocerebellar ataxia type 1…Corticospinal tract dysfunction precede the cerebellar syndrome in spinocerebellar ataxia 2
Objective: To evaluate if corticospinal tract (CST) dysfunction appears before the cerebellar syndrome in SCA2 Background: Studies of corticospinal tract (CST) function in prodromal spinocerebellar…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.