نتایج جستجو برای: idiopathic ataxia
تعداد نتایج: 80629 فیلتر نتایج به سال:
balint’s syndrome is a rare neurological disorder associated with bilateral parieto-occipital damage which was described by rezsö bálint in 1909.the syndrome is manifested clinically by the presence of a hemispatial negligence. the lesion is usually inside parietooccipital region bilaterally in most cases but may also be compromised angular convolutions, the dorsolateral area of the occipital l...
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...
OBJECTIVE To describe a patient with idiopathic zinc overload without an identifiable source and secondary copper deficiency causing myelopolyneuropathy and pancytopenia. DESIGN Case report. PATIENT AND RESULTS A 46-year-old man presented with severe bone marrow suppression and subsequently developed progressive myelopathy with sensory ataxia. No identifiable cause of myelopathy was detecte...
normal 0 false false false en-us x-none fa background : fahr's disease is a rare neurodegenerative disorder of unknown cause characterized by idiopathic basal ganglia calcification that is associated with neuropsychiatric and cognitive impairment. no case of fahr's disease with associated cardiac conduction disease has been described in the literature to date. the objective of this case report ...
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...
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