2009
DOI: 10.1590/s0004-282x2009000600035
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Abstract: -Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia in association with some or all of the following conditions: ophthalmoplegia, pyramidal signs, movement disorders, pigmentary retinopathy, peripheral neuropathy, cognitive dysfunction and dementia. Objective: To carry out a clinical and genetic review of the main types of SCA. Method: The review was based on a search of the PUBMED and OMIM databases. Results: Thirty type… Show more

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Cited by 55 publications
(83 citation statements)
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“…Gait imbalance, nystagmus, decreased muscle tone, dysarthria, vertigo, dysphagia, and dysphonia, and are frequently described symptoms in several studies 2,5,18 . We observed similar symptoms in our case.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…Gait imbalance, nystagmus, decreased muscle tone, dysarthria, vertigo, dysphagia, and dysphonia, and are frequently described symptoms in several studies 2,5,18 . We observed similar symptoms in our case.…”
Section: Discussionmentioning
confidence: 99%
“…Spinocerebellar ataxias (SCA) are a heterogeneous group of neurodegenerative diseases characterized by the presence of progressive cerebellar ataxia whose initial clinical manifestations include deterioration in balance and motor coordination, as well as ocular disorders [1][2][3] .…”
Section: Introductionmentioning
confidence: 99%
“…A striking example is spinocerebellar ataxia, which has at least 33 underlying genes. 11 Discovery of the fourth BAFME chromosomal region will facilitate the identification of the responsible gene. There are possible candidates considering their expression pattern and protein function.…”
Section: Discussionmentioning
confidence: 99%
“…They are characterized by the presence of progressive cerebellar ataxia, whose initial clinical manifestations are eye disorders and the deterioration of balance and coordination (1) .…”
Section: Introductionmentioning
confidence: 99%
“…The SCA type 7, whose identified chromosome is 3p located at 3p14, gene SCA 7, mutation CAG, ataxin-7 protein, has a high incidence in Sweden, Finland, United States and China (1,(4)(5)(6) .…”
Section: Introductionmentioning
confidence: 99%