نتایج جستجو برای: cerebellar ataxias
تعداد نتایج: 26906 فیلتر نتایج به سال:
neurodegenerative disorders, clinically characterized by a cerebellar syndrome with imbalance, unsteady gait and limb incoordination, dysarthria, and disturbed eye movements. Often there are additional neurological or systemic signs, which are highly variable depending on the genetic subtype and on the individual phenotype. The genetic background of heredoataxias has been largely identified dur...
Purpose of review The purpose of this review is to assess the evidence behind treatment regimens for cerebellar ataxias occurring in the context of systemic disease. We will address systemic conditions which are associated with specific involvement of the cerebellum (rather than widespread nervous system involvement) and those conditions for which some degree of evidence of treatment response e...
The autosomal dominant spinocerebellar ataxias (ADSCA) are a group of late-onset neurodegenerative disorders. Since the elucidation of the genetic basis of these disorders, the clinical term ADSCA has been replaced by that of spinocerebellar ataxias (SCAs). In most families with SCA, progressive ataxia is not an isolated symptom but occurs in combination with a variety of other neurological fea...
BACKGROUND This review examines the causes of ataxias in children. It is a relatively common manifestation of neurological diseases in children. The etiology of ataxia covers a broad range, from infections to rare hereditary metabolic diseases. A systematic approach is required to make the correct diagnosis. REVIEW SUMMARY The more common causes of ataxias in children are discussed in detail....
Autosomal dominant cerebellar ataxias have a marked heterogeneous genetic background, with mutations in 34 genes identified so far. This large amount of implicated genes accounts for heterogeneous clinical presentations, making genotype-phenotype correlations a major challenge in the field. While polyglutamine ataxias, linked to CAG repeat expansions in genes such as ATXN1, ATXN2, ATXN3, ATXN7,...
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