Introduction: Loss of inhibitory output from Purkinje cells leads to hyperexcitability of the Deep Cerebellar Nuclei (DCN), which results in cerebellar ataxia. Also, inhibition of small-conductancecalcium-activated potassium (SK) channel increases firing rate  f DCN, which could cause cerebellar ataxia. Therefore, SK channel activators can be effective in reducing the symptoms of this disease, ...

In the article “V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations” by …

backgroundataxia telangiectasia (a-t) is a common genetically inherited cause of early childhood-onset ataxia. the infrequency of this disease, vast phenotype variation, disorders with features similar to those of a-t, and lack of definite laboratory test, make diagnosis difficult.  in addition, there is no rapid reliable laboratory method for identifying a-t heterozygotes, who susceptible to i...

The pathogenesis of sporadic cerebellar ataxia remains unknown. In this study, we demonstrate that proinflammatory cytokines, IL-18 and IL-1beta, reciprocally regulate kainate-induced cerebellar ataxia in mice. We show that systemic administration of kainate activated IL-1beta and IL-18 predominantly in the cerebellum of mice, which was accompanied with ataxia. Mice deficient in caspase-1, IL-1...

PURPOSE Gluten sensitivity (GS) is related to the pathogenesis of sporadic or hereditary ataxia. METHODS Total of 194 healthy controls and patients with either hereditary ataxia (n=207) or sporadic ataxia (n=361) were tested for the circulating gluten-related autoantibodies which serve as biomarkers to interpret the existence of GS. RESULTS The incidences of GS in each population were 1% in...

friedreich’s ataxia (fa) is the commonest genetic cause of ataxia and is associated with the expansion of a gaa repeat in intron 1 of the frataxin gene. iron accumulation in the mitochondria of patients with fa results in hypersensitivity to oxidative stress. mitochondrial dna (mtdna) could be considered a candidate modifier factor for fa disease since mitochondrial oxidative stress is thought ...

background: ataxia with oculomotor apraxia type 1 (aoa1) shows early onset with autosomal recessive inheritance and is caused by a mutation in the aprataxin (aptx) gene encoding for the aptx protein. methods: in this study, a 7-year-old girl born of a first-cousin consanguineous marriage was described with early-onset progressive ataxia and aoa, with increased cholesterol concentration and decr...

Nonparaneoplastic opsoclonus-myoclonus ataxia syndrome is a rare neuroinflammatory condition featured by opsoclonus, myoclonus, ataxia, and cognitive behavioral disturbance. The authors report an observation of enterovirus 71-associated opsoclonus-myoclonus ataxia syndrome evolving toward full recovery on intravenous intravenous immunoglobulin (IG) treatment. Based on this case report, enterovi...

BACKGROUND Deep brain stimulation (DBS) has been utilized to treat various symptoms in patients suffering from movement disorders such as Parkinson's disease, dystonia, and essential tremor. Though ataxia syndromes have not been formally or frequently addressed with DBS, there are patients with ataxia and associated medication refractory tremor or dystonia who may potentially benefit from thera...

Spinocerebellar ataxias 6 and 7 (SCA6 and SCA7) are neurodegenerative disorders caused by expansion of CAG repeats encoding polyglutamine (polyQ) tracts in CACNA1A, the alpha1A subunit of the P/Q-type calcium channel, and ataxin-7 (ATXN7), a component of a chromatin-remodeling complex, respectively. We hypothesized that finding new protein partners for ATXN7 and CACNA1A would provide insight in...