Late-onset familial amyloid polyneuropathy (FAP) Val30Met without family history.

2.50
Hdl Handle:
http://hdl.handle.net/10143/77385
Title:
Late-onset familial amyloid polyneuropathy (FAP) Val30Met without family history.
Authors:
Rudolph, Thomas; Kurz, Martin Wilhelm; Farbu, Elisabeth
Citation:
Clinical medicine & research 2008, 6 (2):80-2

Full metadata record

DC FieldValue Language
dc.contributor.authorRudolph, Thomas-
dc.contributor.authorKurz, Martin Wilhelm-
dc.contributor.authorFarbu, Elisabeth-
dc.date.accessioned2009-08-14T12:02:57Z-
dc.date.available2009-08-14T12:02:57Z-
dc.date.issued2009-08-14T12:02:57Z-
dc.identifier.citationClinical medicine & research 2008, 6 (2):80-2en
dc.identifier.issn1554-6179-
dc.identifier.pmid18606975-
dc.identifier.doi10.3121/cmr.2008.794-
dc.identifier.urihttp://hdl.handle.net/10143/77385-
dc.description.abstractFamilial 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.en
dc.language.isoenen
dc.subjectVDP::Medisinske Fag: 700::Klinisk medisinske fag: 750::Nevrologi: 752en
dc.subject.meshAge of Onseten
dc.subject.meshAgeden
dc.subject.meshAmino Acid Substitutionen
dc.subject.meshAmyloiden
dc.subject.meshAmyloid Neuropathies, Familialen
dc.subject.meshGenes, Dominanten
dc.subject.meshHeterozygoteen
dc.subject.meshHumansen
dc.subject.meshMaleen
dc.subject.meshMutationen
dc.subject.meshPrealbuminen
dc.titleLate-onset familial amyloid polyneuropathy (FAP) Val30Met without family history.en
dc.typeJournal articleen
dc.typepeer revieweden
dc.contributor.departmentDepartment of Neurology, Stavanger University Hospital, Postboks 8100, 4068 Stavanger, Norway. mokum99@online.noen
dc.identifier.journalClinical medicine & researchen
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