نتایج جستجو برای: idiopathic ataxia

تعداد نتایج: 80629  

Journal: :bulletin of emergency and trauma 0
luis rafael moscote-salazar universidad de cartagena willem guillermo calderon-miranda zenen antonio carmona-meza hernando raphael alvis-miranda nasly zabaleta churio gabriel alcalá-cerra

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...

Journal: :genetics in the 3rd millennium 0
fatemeh ahangari zohreh fattahi mahsa fadaee raheleh vazehan ayda abolhassani elham parsimehr

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...

Journal: :Journal of the Korean neurological association 2023

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...

Journal: :Archives of neurology 2003
Peter Hedera John K Fink Paula L Bockenstedt George J Brewer

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...

Journal: :journal of research in medical sciences 0
prashanth panduranga senior specialist, department of cardiology, royal hospital, muscat, oman kadhim sulaiman senior consultant, department of cardiology, royal hospital, muscat, oman

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 ...

2011
Wafaa MA Farghaly Hamdy N El-Tallawy Ghaydaa A Shehata Tarek A Rageh Nabil Abdel Hakeem Noha M Abo-Elfetoh

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...

Journal: :annals of military and health science research 0
حمید محمدی hamid mohamadi department of exercise physiology, faculty of sport sciences, shahid chamran university of ahvaz, ahvaz, iran محسن قنبرزاده mohsen ghanbarzadeh department of exercise physiology, faculty of sport sciences, shahid chamran university of ahvaz, ahvaz, iran نسترن مجدی نسب nastaran majdinasab department of neurology, faculty of medicine, ahvaz jundishapur university of medical sciences, ahvaz, iran مسعود نیکبخت masoud nikbakht department of exercise physiology, faculty of sport sciences, shahid chamran university of ahvaz, ahvaz, iran

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, ...

Journal: :Neurology Genetics 2021

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

Journal: :international journal of pediatrics 0
majid zaki dizaji department of medical genetics, school of medicine, tehran university of medical sciences nima rezaei research center for immunodeficiencies, children's medical center, tehran university of medical science, tehran, iran marjan yaghmaie hematology, oncology and stem cell transplantation research center, shariati hospital, tehran university of medical sciences mehdi yaseri department of epidemiology and biostatistics, tehran university of medical sciences seyed javad sayedi department of pediatrics, school of medicine, mashhad university of medical sciences, mashhad, iran gholamreza azizi department of laboratory medicine, imam hassan mojtaba hospital, alborz university of medical sciences, karaj, iran.

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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