نتایج جستجو برای: hereditary ataxia
تعداد نتایج: 100227 فیلتر نتایج به سال:
We are submitting commentary on behalf of Facing Our Risk of Cancer Empowered, also known as FORCE, which represents nearly a million people living with a BRCA genetic mutation in the U.S. We are also representing populations affected by Lynch Syndrome, Cowden Syndrome, Fanconi Anemia, Ataxia Telangiectasia, Li Fraumeni, and other hereditary cancer communities. Altogether, it is estimated that ...
cerebellar ataxias are a heterogenous group of disorders, clinically and etiologically, that result in considerable health burden. finding out about the various etiologies, and their relative prevalences in the population suffering from cerebellar ataxia helps the clinician to perform a better management, in treatment process. this is a cross sectional study designed to estimate the relative pr...
BACKGROUND Scottish Terriers have a high incidence of juvenile onset hereditary ataxia primarily affecting the Purkinje neuron of the cerebellar cortex and causing slowly progressive cerebellar dysfunction. OBJECTIVE To identify chromosomal regions associated with hereditary ataxia in Scottish Terriers. ANIMALS One hundred and fifty-three Scottish Terriers were recruited through the Scottis...
BACKGROUND Cerebellar ataxia (CA) is a frequent and often disabling condition that impairs motor functioning and impacts on quality of life (QoL). No medication has yet been proven effective for the symptomatic or even causative treatment of hereditary or non-hereditary, non-acquired CA. So far, the only treatment recommendation is physiotherapy. Therefore, new therapeutic options are needed. B...
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...
BACKGROUND Spinocerebellar ataxias (SCA) are a group of hereditary neurodegenerative disorders. Prevalence of SCA subtypes differ worldwide. Autosomal dominant ataxias are the commonest types of inherited ataxias seen in Sri Lanka. The aim of the study is to determine the genetic etiology of patients with autosomal dominant ataxia in Sri Lanka and to describe the clinical features of each genet...
In 1929 Ferguson and Critchley published a detailed clinical study of a family, many members of which suffered from a disease resembling disseminated sclerosis. As far as Ferguson and Critchley could discover the syndrome described had not been recorded previously. The average age of onset was 35 to 45 years and the initial symptoms were weakness and unsteadiness of the legs, followed by dysart...
BACKGROUND There is a high incidence of hereditary degenerative diseases of the central nervous system in purebred dogs. HYPOTHESIS Cerebellar ataxia in Malinois puppies, caused by degenerative changes that predominate in cerebellar nuclei and the granular cell layer, is a hereditary disorder that is distinct from cerebellar cortical abiotrophies. ANIMALS Thirteen Malinois puppies with cere...
INTRODUCTION-OBJECTIVE To describe the history of the discovery of SCA36 and review knowledge of this entity, which is currently the most prevalent hereditary ataxia in Galicia (Spain) owing to a founder effect. DEVELOPMENT SCA36 is an autosomal dominant hereditary ataxia with late onset and slow progression. It presents with cerebellar ataxia, sensorineural hearing loss, and discrete motor n...
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