Bürmann J, Fassbender K, Henn W, Lohse P, Holzhoffer C, Fassbender K, Dillmann U
Klinik für Neurologie, Universitätsklinikum des Saarlandes, Homburg/Saar.
Fortschr Neurol Psychiatr. 2011 Apr;79(4):238-41. doi: 10.1055/s-0029-1246083. Epub 2011 Apr 8.
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淀粉样变性是一种常染色体显性遗传的全身性淀粉样变性，在芬兰最为常见。其临床表现的特征为格子状角膜营养不良、伴有肌纤维颤搐的双侧面瘫以及皮肤松弛。我们报告了一个德国家庭，该家庭患有由9号染色体q34上GSN基因第4外显子编码的凝溶胶蛋白p.Asp214Asn/D187N突变所致的AGel淀粉样变性。
