A rare mutation in the TTR gene was identified as the cause of familial amyloid polyneuropathy (FAP) in a family in China whose first symptom was diarrhea, according to a case report. All the affected family members eventually developed muscle weakness and some had numbness and/or deficient control of…
Machine learning, a form of artificial intelligence, may help doctors to identify people suspected of familial amyloid polyneuropathy (FAP) and who should undergo a genetic test for the disease, a study in Italy suggested. Machine learning uses algorithms to analyze data, learn from its analyses, and make a prediction…
Tegsedi (inotersen) helped to stabilize familial amyloid polyneuropathy (FAP) symptoms in a 71-year-old man, but its use also was associated with a rare case of liver damage after one year of treatment. His liver enzymes, a marker of damage to the organ, rose well beyond the normal range, scientists reported.
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…
A diagnosis of familial amyloid polyneuropathy (FAP) due to a mutation in the TTR gene was made in an older man from China, a country where the disease is not regularly found. The mutation, called Val30Met, is the most common cause of FAP in regions of the…
A man with familial amyloid polyneuropathy (FAP) developed eye problems years after he was found to have an uncommon disease-causing mutation called ATTRD18E, according to a case report from Canada. Abnormal findings included vitreous opacities, or eye floaters, and retinal angiopathy — a condition in which blood vessels at…
The vagus nerve, the longest cranial nerve running from the brain through to the abdomen, is wider in people with familial amyloid polyneuropathy (FAP) than in people without the disease, a small study in China found. Researchers also observed that its dimensions, measured by ultrasound imaging, correlated with the…