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Mitochondrial disease and amyloidosis in a patient with familial polyneuropathy

Familial amyloid polyneuropathy (FAP) is a rare autosomal dominant disease caused by mutations in the transthyretin (TTR) gene and primarily manifesting as a sensorimotor polyneuropathy [1]. Mutations in the polymerase gamma (POLG) gene provoke mitochondrial disorders (MD) with multiple mitochondrial DNA deletions and a wide phenotypic spectrum, often including sensory polyneuropathy [2]. Here, we report a family with POLG-related MD and TTR-related FAP (TTR-FAP), including a single patient presenting with both conditions. To our knowledge, this is the first time that FAP and MD have been described in a single patient. A 58-year-old man (patient II-2) was admitted with unsteadiness of gait and posture slowly aggravating for 10 years (Fig. 1). Neurological examination demonstrated cerebellar ataxia, symmetric partial ptosis, complete external