HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text Full Text (PDF) All Versions of this Article: cmr.2008.794v1 6/2/80    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Rudolph, T. Articles by Farbu, E. Search for Related Content PubMed PubMed Citation Articles by Rudolph, T. Articles by Farbu, E.

Late-Onset Familial Amyloid Polyneuropathy (FAP) Val30Met Without Family History

Thomas Rudolph, Department of Neurology, Stavanger University Hospital, Norway
Martin Wilhelm Kurz, Department of Neurology, Stavanger University Hospital, Norway and Department of Neurology, University Hospital of Duesseldorf, Germany
Elisabeth Farbu, Department of Neurology, Stavanger University Hospital, Norway

Reprint Requests: Dr. Thomas Rudolph, Department of Neurology, Stavanger University Hospital, Postboks 8100, 4068 Stavanger, Norway, Telephone: +47 51 51 86 36, Fax: +47 51 51 99 16, Email: mokum99{at}online.no

Familial amyloid polyneuropathy (FAP) is rare and most commonly caused by the Val30Met mutation of the transthyretin (TTR) gene. Beside polyneuropathy, other complications due to amyloid deposits occur, but may vary in phenotype. The mutation tends to occur in endemic clusters. We describe a 65-year-old man from a non-endemic FAPVal30Met area who developed a progressive generalized painless axonal sensorimotor polyneuropathy with mild autonomic involvement and absent FAP symptoms in the family. Nerve biopsy showed amyloid deposits, staining with TTR-antibodies on immunohistochemistry. After DNA-sequencing of the TTR gene, the diagnosis of FAP Val30Met was made. Late-onset FAP Val30Met is a progressive and fatal disorder with varying penetrance, and may occur in non-endemic areas and cases without a family history.

Key Words: DNA-sequencing • Familial amyloid polyneuropathy • Nerve biopsy • TTR-gene • Val30Met mutation