Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis
- PMID: 15099544
- DOI: 10.1016/S1474-4422(04)00737-9
Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis
Abstract
Autosomal dominant cerebellar ataxias are hereditary neurodegenerative disorders that are known as spinocerebellar ataxias (SCA) in genetic nomenclature. In the pregenomic era, ataxias were some of the most poorly understood neurological disorders; the unravelling of their molecular basis enabled precise diagnosis in vivo and explained many clinical phenomena such as anticipation and variable phenotypes even within one family. However, the discovery of many ataxia genes and loci in the past decade threatens to cause more confusion than optimism among clinicians. Therefore, the provision of guidance for genetic testing according to clinical findings and frequencies of SCA subtypes in different ethnic groups is a major challenge. The identification of ataxia genes raises hope that essential pathogenetic mechanisms causing SCA will become more and more apparent. Elucidation of the pathogenesis of SCA hopefully will enable the development of rational therapies for this group of disorders, which currently can only be treated symptomatically.
Similar articles
-
[The autosomal dominant cerebellar ataxias are hereditary neurodegenerative diseases].Orv Hetil. 2007 Nov 11;148(45):2125-32. doi: 10.1556/OH.2007.28205. Orv Hetil. 2007. PMID: 17984023 Review. Hungarian.
-
The spinocerebellar ataxias: clinical aspects and molecular genetics.Adv Exp Med Biol. 2012;724:351-74. doi: 10.1007/978-1-4614-0653-2_27. Adv Exp Med Biol. 2012. PMID: 22411256 Review.
-
Dominant spinocerebellar ataxias: a molecular approach to classification, diagnosis, pathogenesis and the future.Expert Rev Mol Diagn. 2003 Nov;3(6):715-32. doi: 10.1586/14737159.3.6.715. Expert Rev Mol Diagn. 2003. PMID: 14628900 Review.
-
[Autosomal dominant spinocerebellar ataxia].Neurol Neurochir Pol. 1999 May-Jun;33(3):633-43. Neurol Neurochir Pol. 1999. PMID: 10540724 Review. Polish.
-
Recent advances in hereditary spinocerebellar ataxias.J Neuropathol Exp Neurol. 2005 Mar;64(3):171-80. doi: 10.1093/jnen/64.3.171. J Neuropathol Exp Neurol. 2005. PMID: 15804048 Review.
Cited by
-
Dysautonomia is frequent in Machado-Joseph disease: clinical and neurophysiological evaluation.Cerebellum. 2013 Aug;12(4):513-9. doi: 10.1007/s12311-013-0458-y. Cerebellum. 2013. PMID: 23413156
-
Electrophysiology of ataxia-telangiectasia-like disorder 1.Sudan J Paediatr. 2023;23(2):153-162. doi: 10.24911/SJP.106-1703054783. Sudan J Paediatr. 2023. PMID: 38380400 Free PMC article.
-
Disturbed calcium signaling in spinocerebellar ataxias and Alzheimer's disease.Semin Cell Dev Biol. 2015 Apr;40:127-33. doi: 10.1016/j.semcdb.2015.03.010. Epub 2015 Apr 4. Semin Cell Dev Biol. 2015. PMID: 25846864 Free PMC article. Review.
-
MR Imaging of SCA3/MJD.Front Neurosci. 2020 Aug 4;14:749. doi: 10.3389/fnins.2020.00749. eCollection 2020. Front Neurosci. 2020. PMID: 32848545 Free PMC article. Review.
-
HSF1 and Its Role in Huntington's Disease Pathology.Adv Exp Med Biol. 2023;1410:35-95. doi: 10.1007/5584_2022_742. Adv Exp Med Biol. 2023. PMID: 36396925 Review.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Other Literature Sources
Miscellaneous
