HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS REGISTER		Author Keyword(s) Vol Page [Advanced]

This Article Full Text Full Text (PDF) Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Add article to my folders Download to citation manager Request Permissions Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by de Silva, R. Articles by Davenport, R. J Search for Related Content PubMed PubMed Citation Articles by de Silva, R. Articles by Davenport, R. J

Diagnostic DNA testing and consent

¹ Department of Neurology, Essex Centre for Neurological Sciences, Queen’s Hospital, Romford, Essex RM7 0AG, UK

The first 150 words of the full text of this article appear below.

In Richard Davenport’s description of an individual with ataxia harbouring an FMR1 gene permutation in the October issue of Practical Neurology,¹ the patient’s detailed family history is not explored. This may occasionally provide a clue to the diagnosis. I am seeing a late middle-aged patient with a seven year history of tremor and ataxia, whose diagnosis emerged when her daughter’s son was diagnosed with fragile X syndrome. (In a case report entitled Genetics in reverse, Chinnery et al described a similar scenario.²) In Davenport’s case, one presumes that the diagnosis was achieved by applying the newly described test on a repository of undiagnosed patients’ DNA samples. Indeed he recommends retaining (DNA) samples on patients for future "diagnostic" use. The level of consent required for retaining and testing such specimens is not specified. As exemplified by FMR1 premutation cases, the implications on future generations may be huge, and . . . [Full text of this article]

Richard J Davenport²

² Consultant Neurologist, Department of Clinical Neurosciences, Western General Hospital, Crewe Road, Edinburgh EH4 2XY, UK; rjd@skull.dcn.ed.ac.uk

This article has been cited by other articles:

				R J Davenport Why can't I make neurological diagnoses anymore? Practical Neurology, April 1, 2008; 8(2): 74 - 76. [Full Text] [PDF]