Contégal F, Bidot S, Thauvin C, Lévèque L, Soichot P, Gras P, Moreau T, Giroud M
Service de Neurologie, CHU Dijon, France.
Rev Neurol (Paris). 2006 Oct;162(10):997-1001. doi: 10.1016/s0035-3787(06)75110-4.
Finnish amyloid variety is a rare familial amiloidosis polyneuropathy essentially observed in Finland. It concerns about six hundred people in the world in which five hundred reside in Finland.
We report a case of a 58-year-old French woman with a 10-year history of lattice cornea dystrophy. She consulted in January 2004 for impaired swallowing, facial paralysis principally of the right superior territory and symptoms of arthritis which had developed a few months earlier. Observation revealed facial cutis laxa, tongue amyotrophy and some fasciculation. Electroneuromyography showed chronic neurogenic involvement of the facial muscles. Limbs and the sympathetic neuronal system were free of involvement. Pathological examination revealed areas of peri vascular amiloid deposits. Molecular biology confirmed the diagnosis of Finnish amiloidosis: substitution of aspartic acid by tyrosine in the 187 codon in the 9th chromosome (gelsoline gene). This mutation has been previously found in Denmark and the Czech Republic.
Finnish amiloidosis is a familial polyneuropathy characterized by an association of cornea lattice dystrophy, cutis laxa and a chronic neurogenic involvement of the cranial nerves. Two mutations are known. Life expectancy is not affected, but quality of life is altered.
芬兰淀粉样变类型是一种罕见的家族性淀粉样多神经病，主要在芬兰被观察到。全球约有600人患有此病，其中500人居住在芬兰。
我们报告一例58岁法国女性，有10年格子状角膜营养不良病史。她于2004年1月因吞咽功能受损、主要是右上半面部的面瘫以及几个月前出现的关节炎症状前来就诊。检查发现面部皮肤松弛、舌肌萎缩和一些肌束震颤。肌电图显示面部肌肉有慢性神经源性损害。四肢和交感神经系统未受累。病理检查发现血管周围有淀粉样沉积物区域。分子生物学确诊为芬兰淀粉样变：第9号染色体（凝溶胶蛋白基因）第187密码子处天冬氨酸被酪氨酸替代。该突变先前在丹麦和捷克共和国被发现。
芬兰淀粉样变是一种家族性多神经病，其特征为角膜格子状营养不良、皮肤松弛和慢性脑神经源性损害。已知有两种突变。预期寿命不受影响，但生活质量会改变。
