Skip to main content Accessibility help
×
Home
Hostname: page-component-78dcdb465f-hcvhd Total loading time: 0.24 Render date: 2021-04-18T23:17:13.389Z Has data issue: true Feature Flags: { "shouldUseShareProductTool": true, "shouldUseHypothesis": true, "isUnsiloEnabled": true, "metricsAbstractViews": false, "figures": false, "newCiteModal": false, "newCitedByModal": true }

The new genetics in psychiatry

Published online by Cambridge University Press:  02 January 2018

Rights & Permissions[Opens in a new window]

Extract

Advances in the understanding of the genetic causes of some neuropsychiatric disorders are having an impact on clinical practice as direct mutation analysis becomes possible. Mutation analysis is now available in UK Health Service diagnostic laboratories for Huntington's disease (HD) and the fragile X syndrome (FRAXA). Psychiatrists need to be familiar with issues surrounding presymptomatic and diagnostic testing in HD and diagnostic and carrier testing in FRAXA. They may be asked to assist clinical geneticists in the assessment of candidates for HD presymptomatic testing and a suggested mode of assessment is described here. The procedure for HD will provide the model for use with other familial neuropsychiatric disorders of late onset, notably familial Alzheimer's disease (FAD). Testing for FAD is already possible in conjunction with research laboratories in the few families where a mutation has been discovered and we shall have more tests for FAD within a few years.

Type
Research Article
Copyright
Copyright © The Royal College of Psychiatrists 1995 

References

Bloch, M., Adam, S., Wiggins, S. et al (1992) Predictive testing for Huntington's disease in Canada: the experience of those receiving an increased risk. American Journal of Medical Genetics, 42, 499507.CrossRefGoogle ScholarPubMed
Brunner, H. G., Nelen, M., Breakefield, X. O. et al (1993) Abnormal behaviour associated with a point mutation in the structural gene for monoamine oxidase A. Science, 262, 578580.CrossRefGoogle Scholar
Caine, E. D. & Shoulson, I. (1983) Psychiatric syndromes in Huntington's disease. American Journal of Psychiatry, 140, 728733.Google ScholarPubMed
Clark, R. F. & Goate, A. M. (1993) Molecular genetics of Alzheimer's disease. Archives of Neurology, 50, 11641172.CrossRefGoogle ScholarPubMed
Corder, E. H., Saunders, A. M., Strittmatter, W. J. et al (1993) Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science, 261, 921923.CrossRefGoogle ScholarPubMed
Craufurd, D. & Tyler, A. on behalf of the UK Huntington's Prediction Consortium (1992) Predictive testing for Huntington's disease: protocol of the UK Huntington's Prediction Consortium. Journal of Medical Genetics, 29, 915918.CrossRefGoogle ScholarPubMed
De Vries, L. B. A., Halley, D. J. J., Oostra, B. A. et al (1994) The fragile-X syndrome: a growing gene causing familial intellectual disability. Journal of Intellectual Disability Research, 38, 18.CrossRefGoogle ScholarPubMed
Diamond, R., White, R. F., Myers, R. H. et al (1992) Evidence of presymptomatic cognitive decline in Huntington's disease. Journal of Clinical and Experimental Neuropsychology, 14, 961975.CrossRefGoogle ScholarPubMed
Duyao, M., Ambrose, C., Myers, R. et al (1993) Trinucleotide repeat length instability and age of onset in Huntington's disease. Nature Genetics, 4, 387392.CrossRefGoogle ScholarPubMed
Folstein, S. E., Abbott, M. H., Chase, G. A. et al (1983) The association of affective disorder with Huntington's disease in a case series and in families. Psychological Medicine, 13, 537542.CrossRefGoogle Scholar
Folstein, S. E., Leigh, J., Parhad, I. M. et al (1986). The diagnosis of Huntington's disease. Neurology, 36, 12791283.CrossRefGoogle Scholar
Ford, M. F. (1986) Treatment of depression in Huntington's disease with monoamine oxidase inhibitors. British Journal of Psychiatry, 149, 654656.CrossRefGoogle ScholarPubMed
Glass, I. A. (1991) X-linked mental retardation. Journal of Medical Genetics, 28, 361–71.CrossRefGoogle ScholarPubMed
Goate, A., Chartier-Harlin, M. C., Mullan, M. et al (1991) Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature, 349, 704706.CrossRefGoogle ScholarPubMed
Gusella, J. F., Wexler, N. S., Conneally, P. M. et al (1983) A polymorphic DNA marker genetically linked to Huntington's disease. Nature, 306, 234238.CrossRefGoogle ScholarPubMed
Harper, P. S. (1988) Practical Genetic Counselling (3rd edn). Butterworth-Heinemann.Google Scholar
Hayden, M. R. (1981) Huntington's Chorea. New York: Springer-Verlag.CrossRefGoogle ScholarPubMed
Huggins, M., Bloch, M., Wiggins, S. et al (1992) Predictive testing for Huntington's disease in Canada: adverse effects and unexpected results in those receiving a decreased risk. American Journal of Medical Genetics, 42, 508515.CrossRefGoogle ScholarPubMed
Huntington's Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell, 72, 971983.CrossRefGoogle ScholarPubMed
Jouet, M., Rosenthal, A., Armstrong, G. et al (1994) X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nature Genetics, 7, 402407.CrossRefGoogle Scholar
Knight, S. J. L., Flannery, A. V., Hirst, M. C. et al (1993) Trinucleotide repeat amplification and hypermethylation of a CpG Island in FRAXE mental retardation. Cell, 74, 127134.CrossRefGoogle ScholarPubMed
McGuffin, P., Owen, M., O'Donovan, M. et al (1994) Seminars in Psychiatric Genetics. London: Gaskell.Google Scholar
Owen, M., Liddell, M. & McGuffin, P. (1994) Alzheimer's disease. An association with apolipoprotein E4 may help unlock the puzzle. British Medical Journal, 308, 672673.CrossRefGoogle Scholar
Pflanz, S., Besson, J. A. O., Ebmeier, K. P. et al (1991) The clinical manifestation of mental disorder in Huntington's disease: a retrospective case record study of disease progression. Acta Psychiatrica Scandanavica, 83, 5360.CrossRefGoogle Scholar
Rousseau, F., Heitz, D., Biancalana, V. et al (1991) Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. New England Journal of Medicine, 325, 16731681.CrossRefGoogle ScholarPubMed
Schoenfeld, M., Myers, R. H., Cupples, A. et al (1984) Increased rate of suicide among patients with Huntington's disease. Journal of Neurology, Neurosurgery and Psychiatry, 47, 12831287.CrossRefGoogle ScholarPubMed
Schwartz, C. E. (1993) Invited editorial: X-linked mental retardation: in pursuit of a gene map. American Journal of Human Genetics, 52, 10251031.Google Scholar
Turk, J. (1992) The fragile X syndrome: on the way to a behavioural phenotype. British Journal of Psychiatry, 160, 2435.CrossRefGoogle ScholarPubMed
Tyler, A., Morris, M., Lazarou, L. et al (1992) Presymptomatic testing for Huntington's disease in Wales 1987–90. British Journal of Psychiatry, 161, 481488.CrossRefGoogle ScholarPubMed
Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S. et al (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region length variation in fragile X syndrome. Cell, 65, 905914.CrossRefGoogle ScholarPubMed
Young, I. D. (1993) Diagnosing fragile X syndrome. Lancet, 342, 10041005.CrossRefGoogle ScholarPubMed
Submit a response

eLetters

No eLetters have been published for this article.

Full text views

Full text views reflects PDF downloads, PDFs sent to Google Drive, Dropbox and Kindle and HTML full text views.

Total number of HTML views: 0
Total number of PDF views: 55 *
View data table for this chart

* Views captured on Cambridge Core between 02nd January 2018 - 18th April 2021. This data will be updated every 24 hours.

You have Access

Send article to Kindle

To send this article to your Kindle, first ensure no-reply@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about sending to your Kindle. Find out more about sending to your Kindle.

Note you can select to send to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be sent to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

The new genetics in psychiatry
Available formats
×

Send article to Dropbox

To send this article to your Dropbox account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Dropbox.

The new genetics in psychiatry
Available formats
×

Send article to Google Drive

To send this article to your Google Drive account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Google Drive.

The new genetics in psychiatry
Available formats
×
×

Reply to: Submit a response


Your details


Conflicting interests

Do you have any conflicting interests? *