A highly sensitive tool has been developed to help identify patients with familial amyloid polyneuropathy (FAP). Using a compound score based on clinical symptoms and electrophysiological data, clinicians can now determine which patients should undergo genetic testing. “This score can be easily performed also during electrophysiological evaluation and can…
Familial amyloid polyneuropathy (FAP) caused by Thr49Ser, a rare disease-causing mutation, was identified for the first time in three patients from Japan, as described in a recent case series. The mutation appears to be highly penetrant, according to the report, meaning most people carrying it develop overt disease symptoms.
Changes in the function of the retina, in combination with nerve damage in the cornea, can be used as early biomarkers of hereditary transthyretin (hATTR) amyloidosis, also known as familial amyloid polyneuropathy (FAP), a study reports. Researchers suggest that a complete eye exam could be useful to detect problems…
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