2016
DOI: 10.1590/0004-282x20160038
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Current concepts in the treatment of hereditary ataxias

Abstract: Hereditary ataxias (HA) represents an extensive group of clinically and genetically heterogeneous neurodegenerative diseases, characterized by progressive ataxia combined with extra-cerebellar and multi-systemic involvements, including peripheral neuropathy, pyramidal signs, movement disorders, seizures, and cognitive dysfunction. There is no effective treatment for HA, and management remains supportive and symptomatic. In this review, we will focus on the symptomatic treatment of the main autosomal recessive … Show more

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Cited by 24 publications
(15 citation statements)
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“…Although SCA2–as with other SCAs–has been studied extensively, it is still considered an “orphaned treatment” disease, where a cure has not been found . Nevertheless, a promising gene therapy based on antisense oligonucleotide approach was significantly efficient in mouse models, and symptomatic therapeutical options are already available for humans …”
mentioning
confidence: 99%
“…Although SCA2–as with other SCAs–has been studied extensively, it is still considered an “orphaned treatment” disease, where a cure has not been found . Nevertheless, a promising gene therapy based on antisense oligonucleotide approach was significantly efficient in mouse models, and symptomatic therapeutical options are already available for humans …”
mentioning
confidence: 99%
“…Participants described how the family is continually living with the impact of MJD over the generations, similar to the experience of those with other hereditary neurodegenerative diseases [ 28 ]. Yet, rehabilitation services for this population have typically focused on the individual, rather than families, and commence after onset of symptoms [ 29 31 ] when adjusting to life with the disease may be the only alternative [ 28 , 32 , 33 ]. The experience of MJD described in this study aligns closely with the biopsychosocial Family System Genetic Illness (FSGI) model [ 34 ], which recognises the ongoing impact on individuals and families along the life cycle and phases of genetic disease [ 35 , 36 ].…”
Section: Discussionmentioning
confidence: 99%
“…However, these types of tremor were uncommon among SCAs, except for ataxia with vitamin E deficiency, which is often associated with head tremor. 55 Finally, we only focused on the repeat expansion in selected ataxia genes in the genetic modifier analyses. Variants in other ataxia genes, along with expansions of the FMR1 gene, might also play a role, which requires further exploration.…”
Section: Discussionmentioning
confidence: 99%