hereditary ataxias are heterogeneous group of neurodegenerative disorders classified mainly into more than 40 autosomal dominant cerebellar ataxias and 50 recessive ataxias. large amount of nearly uncommon subtypes with extensive phenotypic overlap and relatively high rate of abnormal repetitive sequence expansions, such as trinucleotide repeat expansions make diagnostic genetic testing complic...

Ataxia is presented by various etiologies, including acquired, genetic and degenerative disorders. Although hereditary ataxia suspected when typical symptom of with concurrent identified, it sometimes difficult to diagnose without test. Clinically, next generation sequencing technology has been developed widely used for diagnosis disease. Hereby, we experienced cases genetically confirmed <i...

BACKGROUND The aim of this research was to determine the prevalence and etiology of acquired ataxia in Al-Kharga district, New Valley, Egypt. METHODS A population-based study of acquired ataxia was conducted in a defined geographical region with a total population of 62,583. A door-to-door survey was used to identify cases of acquired cerebellar ataxia. Patients with acquired cerebellar ataxi...

purpose: the aim of this study is to change one of the primary impairments associated with multiple sclerosis, i.e. ataxia, in which there is insufficient postural control. materials and methods: the current randomized controlled trial investigated the effects of aquatic exercise on postural control in ms ataxic patients. thirty-two patients with multiple sclerosis with a degree of ataxia indic...

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 ...