hATTR-PN

It’s summer here in Auckland, New Zealand, and as I look out the window at my weed-filled lawn, not only am I reminded that the grass needs mowing again, but also how time flies without qualms or quandary. It’s been 19 months since I lost my husband, Aubrey, to…

Screening for toxic protein clumps using biopsies and advanced imaging techniques may help people carrying mutations that cause hereditary transthyretin amyloidosis (ATTRv) — a group of conditions that includes familial amyloid polyneuropathy (FAP) — to get an early start on disease-modifying treatment (DMT). That’s according to a study in…

Holiday travel reminds my family just how important a wheelchair-accessible van is for transporting my mother-in-law, who has familial amyloid polyneuropathy. It can be difficult for neuropathy patients and their caregivers to be home all the time, and traveling may be necessary to keep the holiday spirit alive.

The electrical signaling patterns associated with polyneuropathy, or damage to nerves outside the brain and spinal cord, vary in a first nerve conduction study given people in earlier stages of familial amyloid polyneuropathy (FAP). That’s according to a small study in Italy, which also found that signs of polyneuropathy…

Blood levels of neurofilament light chain (NfL) — a marker of nerve cell damage — can separate people with symptoms of forms of hereditary ATTR amyloidosis (hATTR), including familial amyloid polyneuropathy (FAP), from those who haven’t developed symptoms yet. That’s according to a study in Italy that also showed…

An ultrasound of the peripheral nerves could help monitor disease progression in people with early-stage familial amyloid polyneuropathy (FAP) who carry V30M, the most common disease-causing mutation. That’s according to a study in Sweden that also showed that while about half of patients analyzed showed no signs of peripheral…

I recently had the pleasure of attending an Amyloidosis Alliance conference in Madrid, which brought together advocates from around the world who serve the transthyretin amyloidosis community. This includes the familial amyloid polyneuropathy (FAP) and amyloid light chain or primary amyloidosis communities. Attendees discussed the…

Two Italian brothers carrying V122I, a TTR gene mutation often linked to hereditary ATTR amyloidosis with cardiomyopathy (hATTR-CM), developed neurological symptoms that resembled familial amyloid polyneuropathy (FAP), with little or no heart involvement, a study shows. The cases add to the growing number of studies reporting symptoms of nerve…

The past few weeks have been challenging for my extended family and me. My mother-in-law, who has familial amyloid polyneuropathy (FAP), experienced a health setback that required an extended hospital stay. Before this, she seemed to have achieved stability in her daily life, and improvements in her health were…

A single infusion of NTLA-2001, an experimental gene-editing therapy, generally is safe and leads to a marked reduction in blood levels of the harmful transthyretin (TTR) protein in people with familial amyloid polyneuropathy (FAP) and ATTR amyloidosis with cardiomyopathy (ATTR-CM). These updated, interim data cover 65 of 72 patients…