2013
DOI: 10.4238/2013.june.13.6
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A systematic review of the intergenerational aspects and the diverse genetic profiles of Huntington's disease

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Cited by 15 publications
(12 citation statements)
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“…This incidence is similar to that reported in the literature, even in populations with low HD prevalence 4,13,19,20 . These sporadic cases are due to de novo mutations resulting generally from expansion of nonpenetrant alleles usually upon paternal transmission 21 .…”
Section: Discussionsupporting
confidence: 79%
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“…This incidence is similar to that reported in the literature, even in populations with low HD prevalence 4,13,19,20 . These sporadic cases are due to de novo mutations resulting generally from expansion of nonpenetrant alleles usually upon paternal transmission 21 .…”
Section: Discussionsupporting
confidence: 79%
“…Genetic results showed that the expanded CAG repeat range was between 38 and 75 (mean = 43.8) and that of normal allele range was between 9 and 23. The distribution of the expanded CAG repeat and the significant correlation found for the relationship between the age of onset and the CAG repeat expansion were similar to that for Caucasian population described previously 4,13 . However, the contribution of CAG repeat length in our study accounts only for up to 56% of the variance in the age at onset.…”
Section: Discussionsupporting
confidence: 60%
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“…Huntington's disease (HD) is a rare, progressive and fatal hereditary neurodegenerative disease characterized by movement and personality disorders and progressive cognitive decline [56], for which no completely effective treatments in human patients are currently available. A common and widely reported phenomenon of energy metabolism impairment in HD is accumulation of lactic acid in the CNS and possible subsequent acidosis in both animal models and human patients [57,58].…”
Section: Asics and Huntington's Diseasementioning
confidence: 99%
“…An increased focus of the Brazilian governmental health care authorities on the disease, providing a multidisciplinary treatment approach and free molecular testing for precise HD diagnosis, could increase the correct number of death notifications and could also favor differential diagnosis (Agostinho et al, 2013). The latter would lead to the exclusion of other diseases with a similar phenotype but better prognosis.…”
Section: Discussionmentioning
confidence: 99%