Genetic testing in inherited ataxias
- PMID: 14653410
- DOI: 10.1016/s1071-9091(03)00031-7
Genetic testing in inherited ataxias
Abstract
Many genetic conditions can result in ataxia. Careful clinical, radiologic, and genetic evaluation permits the specific diagnosis of many of these conditions, which in turn facilitates medical care for the patient and genetic counseling for the patient and family. Predictive, prenatal, and carrier testing are possible for some conditions, but the use of gene tests in these clinical situations requires detailed genetic counseling that may be best left to genetics specialists.
Similar articles
-
Genetic ataxia.Neurol Clin. 2002 Aug;20(3):727-57, vii. doi: 10.1016/s0733-8619(02)00008-7. Neurol Clin. 2002. PMID: 12432828 Review.
-
[Overview of Hereditary Spinocerebellar Ataxias in Japan].Brain Nerve. 2017 Aug;69(8):879-890. doi: 10.11477/mf.1416200839. Brain Nerve. 2017. PMID: 28819072 Japanese.
-
[Genetic diagnosis, classification and clinical hereditary ataxia disease entities].Fortschr Neurol Psychiatr. 1997 Feb;65(2):79-89. doi: 10.1055/s-2007-996312. Fortschr Neurol Psychiatr. 1997. PMID: 9157050 Review. German.
-
Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration.Handb Clin Neurol. 2013;113:1869-78. doi: 10.1016/B978-0-444-59565-2.00057-5. Handb Clin Neurol. 2013. PMID: 23622410 Review.
-
[The molecular genetic approach to the study of dominant spinocerebellar ataxias].Zh Nevrol Psikhiatr Im S S Korsakova. 1996;96(1):37-41. Zh Nevrol Psikhiatr Im S S Korsakova. 1996. PMID: 8677716 Russian.
Cited by
-
The spinocerebellar ataxias.J Neuroophthalmol. 2009 Sep;29(3):227-37. doi: 10.1097/WNO0b013e3181b416de. J Neuroophthalmol. 2009. PMID: 19726947 Free PMC article. Review.
-
A review of quality of life after predictive testing for and earlier identification of neurodegenerative diseases.Prog Neurobiol. 2013 Nov;110:2-28. doi: 10.1016/j.pneurobio.2013.08.003. Epub 2013 Sep 11. Prog Neurobiol. 2013. PMID: 24036231 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources