Neurologische Manifestationen der AGel-Amyloidose (Meretoja-Syndrom) bei einer deutschen Familie

Zusammenfassung

Die AGel-Amyloidose ist eine autosomal dominant vererbte systemische Amyloidose, die bisher überwiegend in Finnland nachgewiesen wurde. Diese Erkrankung ist durch die Leitsymptome gittrige Hornhautdystrophie, bilaterale Fazialisparese mit Myokymien und Cutis laxa charakterisiert. Wir berichten über eine deutsche Familie mit dem genetischen Nachweis einer AGel-Amyloidose.

Abstract

AGel amyloidosis is an autosomal dominantly inherited systemic amyloidosis which is most commonly observed in Finland. The clinical manifestation is characterised by lattice corneal dystrophy, bilateral facial palsy with myokymias, and cutis laxa. We report on a German family with an AGel amyloidosis due to a gelsolin p.Asp214Asn/D187N mutation encoded by exon 4 of the GSN gene on chromosome 9q34.

AGel-Amyloidose - hereditäre Amyloidose - Fazialisparese - Polyneuropathie - Gelsolin

AGel amyloidosis - hereditary amyloidosis - facial palsy - polyneuropathy - gelsolin

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