نتایج جستجو برای: cerebellar ataxias

تعداد نتایج: 26906  

2009
Josef Finsterer

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...

2017
Malcolm Proudfoot Alastair Wilkins

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...

Journal: :Hong Kong medical journal = Xianggang yi xue za zhi 2004
B W Soong

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 Since the elucidation of the genetic basis of these disorders, the clinical term ADSCA has been replaced by that of spinocerebellar ataxias (SCAs).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...

Journal: :The neurologist 2001
J A Gosalakkal

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....

Journal: :Brain : a journal of neurology 2017
Marie Coutelier Giulia Coarelli Marie-Lorraine Monin Juliette Konop Claire-Sophie Davoine Christelle Tesson Rémi Valter Mathieu Anheim Anthony Behin Giovanni Castelnovo Perrine Charles Albert David Claire Ewenczyk Mélanie Fradin Cyril Goizet Didier Hannequin Pierre Labauge Florence Riant Pierre Sarda Yves Sznajer François Tison Urielle Ullmann Lionel Van Maldergem Fanny Mochel Alexis Brice Giovanni Stevanin Alexandra Durr

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,...

Journal: :Therapeutic Advances in Neurological Disorders 2016

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