New FAP-causing Mutation Found in Elderly Man in Germany
Case underscores need for genetic analysis, history in ATTR amyloidosis, researchers said
“An elderly man in Germany was found to carry one copy of a new mutation in the TTR gene that caused both neurological and heart symptoms of familial amyloid polyneuropathy (FAP), which were described in a recent case report.
The man’s case calls for “careful molecular genetic analysis and history taking in every case of ATTR amyloidosis … to not overlook rare cases of hereditary ATTR amyloidosis and offer appropriate disease-modifying treatments,” the researchers said.”