title: [Neurological manifestations of AGel amyloidosis (Meretoja's syndrome) in a German family].
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.
authors.affiliation: Klinik für Neurologie, Universitätsklinikum des Saarlandes, Homburg/Saar. jan1buermann@aol.com
authors.forename: J
authors.initials: J
authors.lastname: Bürmann
authors.forename: K
authors.initials: K
authors.lastname: Fassbender
authors.forename: W
authors.initials: W
authors.lastname: Henn
authors.forename: P
authors.initials: P
authors.lastname: Lohse
authors.forename: C
authors.initials: C
authors.lastname: Holzhoffer
authors.forename: K
authors.initials: K
authors.lastname: Fassbender
authors.forename: U
authors.initials: U
authors.lastname: Dillmann
mesh_terms: D000368:Aged; D000686:Amyloidosis / Q000150:complications / Q000503:physiopathology; D028226:Amyloidosis, Familial / Q000150:complications / Q000503:physiopathology*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D003317:Corneal Dystrophies, Hereditary / Q000150:complications / Q000209:etiology / Q000503:physiopathology; D003483:Cutis Laxa / Q000209:etiology; D004568:Electrodiagnosis; D005091:Exons / Q000235:genetics; D005158:Facial Paralysis / Q000209:etiology / Q000503:physiopathology; D005190:Family; D005260:Female; D005387:Finland; D018260:Gelsolin / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009069:Movement Disorders / Q000209:etiology; D009154:Mutation / Q000235:genetics; D009422:Nervous System Diseases / Q000209:etiology / Q000503:physiopathology*
chemical_list: D018260:Gelsolin