Motor neuron disease in three asymptomatic pVal50Met TTR gene carriers
Sign Up to like & getrecommendations! Published in 2022 at "Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration"
DOI: 10.1080/21678421.2022.2029899
Abstract: Abstract We describe three unrelated patients with sporadic motor neuron disease (MND) and hereditary amyloid transthyretin (ATTRv) amyloidosis family history, who were asymptomatic carriers of the pVal50Met mutation of transthyretin (TTR) gene. Patients 1 and… read more here.
Keywords: ttr gene; gene; neuron disease; motor neuron ... See more keywords
Liver‐directed drugs for transthyretin‐mediated amyloidosis
Sign Up to like & getrecommendations! Published in 2022 at "Journal of the Peripheral Nervous System"
DOI: 10.1111/jns.12519
Abstract: Transthyretin‐mediated amyloidosis (ATTR) is a rare, under‐recognized, progressively debilitating, fatal disease caused by the aggregation and extracellular deposition of amyloid transthyretin (TTR) fibrils in multiple organs and tissues throughout the body. TTR is predominantly synthesized… read more here.
Keywords: transthyretin mediated; ttr gene; mediated amyloidosis; gene ... See more keywords