PT  - JOURNAL ARTICLE
AU  - Inês Antunes Cunha
AU  - Ana Brás
AU  - Fátima Silva
AU  - Anabela Matos
TI  - Familial amyloidosis of the Finnish type: clinical and neurophysiological features of two index cases
AID  - 10.1136/bcr-2021-245764
DP  - 2022 Nov 01
TA  - BMJ Case Reports
PG  - e245764
VI  - 15
IP  - 11
4099  - http://casereports.bmj.com/content/15/11/e245764.short
4100  - http://casereports.bmj.com/content/15/11/e245764.full
SO  - BMJ Case Reports2022 Nov 01; 15
AB  - Familial amyloidosis of the Finnish type (FAF) is a rare multisystemic disorder caused by mutations in the gelsolin gene. The clinical presentation is typically characterised by a triad of ophthalmic, neurological and dermatological findings. FAF has been reported in several countries, primarily in Finland and recently in Portugal. We report the first genetically confirmed cases of FAF from two unrelated families in our neuromuscular outpatient clinic. Gelsolin gene sequencing revealed the heterozygous gelsolin mutation (c.640G>A). The clinical features and the neurophysiological studies of two index patients and their relatives are presented. Obtaining an early diagnosis can be challenging, but FAF should be considered in the differential diagnosis of progressive bilateral facial neuropathy, even if there is no known Finnish ancestor.