This scientific commentary refers to ‘Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia’, by Rebelo et al. (doi: 10.1093/brain/awab071).

introduction: purkinje cell (pc) output displays a complex firing pattern consisting of high frequency sodium spikes and low frequency calcium spikes, and disruption in this firing behavior may contribute to cerebellar ataxia. riluzole, neuroprotective agent, has been demonstrated to have neuroprotective effects in cerebellar ataxia. here, the spectral analysis of pcs firing in control, 3-acety...

Abstract Background Cogan’s anterior internuclear ophthalmoplegia (INO) is characterized by INO with inability to converge and commonly thought be due rostral midbrain lesion. A lesion outside that causes unilateral combined upgaze palsy ataxia are rarely described. Case presentation 67-year old male presented left (INO), appendicular bilateral palsy. Magnetic Resonance Imaging (MRI) Angiograph...

T he cerebellar ataxias are a heterogeneous group of neurodegenerative disorders, characterised by symptoms and signs of cerebellar degeneration, pyramidal and extrapyramidal features, and variable polyneuropathy. Prominent clinical features are signs of cerebellar ataxia, such as uncoordinated gait and uncontrolled co-ordination of hand, speech, and eye movements, while (extra) pyramidal signs...

BACKGROUND Friedreich's ataxia is a rare autosomal recessive neurodegenerative disorder. Here we report cross-sectional baseline data to establish the biological and clinical characteristics for a prospective, international, European Friedreich's ataxia database registry. METHODS Within the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) framework, we assessed a coh...

Abstract Background and purpose Immune mediated cerebellar ataxias account for a substantial proportion of all progressive ataxias. A diagnostic serological test is not always available. This particularly problematic in Primary Autoimmune Cerebellar Ataxia, hence the necessity criteria recently devised published by an International Task Force. We present our experience use commercially availabl...

Consumption of alcohol excessively causes dependence and leads to psychological discomfort. Motivation drink is influenced by a variety neurobiological environmental variables. The proclivity an individual imbibe thought reflect balance between alcohol’s positive reinforcing (i.e., rewarding) effects, such as euphoria anxiety reduction anxiolysis), the drug...

An Indian family with four members having hereditary ataxia was presented. The inheritance was most likely autosomal dominant. The onset was at adult life. The main disability was cerebellar ataxia with pyramidal tract sign found at physical examination. Electroencephalography and nerve conduction study were abnormal in two cases where they were done. The clinical feature correspond to an inter...

The recent advances in genetic analysis have facilitated the classification of autosomal dominant or recessive spinocerebellar ataxia. Although differential diagnosis of spinocerebellar ataxia is clinically very complicated, MRI characteristics may be an important tool for diagnosis. In the present review article, we summarize the skills of neuroradiology for a diagnosis of various types of spi...

Methods This retrospective and descriptive study evaluated the clinical characteristics and outcomes of patients with CA-GAD-ab. Result Three patients with cerebellar ataxia, high GAD-ab titers and autoimmune endocrine disease were identified. Patients 1 and 2 had classic stiff person syndrome and insidious-onset cerebellar ataxia, while Patient 3 had pure cerebellar ataxia with subacute onse...