The molecular diagnosis in familial amyloidotic polyneuropathy [Diagnóstico molecular da polineuropatia amiloidótica familiar]

• Type: Article in International Scientific Journal
• Date: 2006

Authors

costa, pp (Author) ICBAS

Journal

Title: Sinapse

Vol. 6

Pages: 138-142

ISSN: 1645-281X

Publisher: Sociedade Portuguesa de Neurologia

Indexing

ISI Web of Knowledge

Scopus - 0 Citations

Other information

Authenticus ID: P-007-FS4

Abstract (EN): Molecular diagnosis is a fundamental tool in the management of familial amyloidotic polyneuropathy and of other hereditary amyloid diseases. Its beginnings are rooted in the discovery of the V30M mutation of transthyretin, in the Portuguese type disease, in 1983. An enormous variety of analytical procedures are at our disposal today. Following a brief review of protein-based and molecular genetics-based methods, the management of analytical requests by the Portuguese Amyloid Research Centre is discussed. As in other fields of medicine, efforts at keeping up to date and frequent consultation with the laboratory are crucial for the maximization of the benefits brought by technological progress.

Language: Portuguese

Type (Professor's evaluation): Scientific

No. of pages: 5