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
TTR Gene Screening Since the Advent of Biotherapies in France: A Nationwide Retrospective Survey Between 2018 and 2023
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DOI: 10.1111/ene.70104
Abstract: Hereditary transthyretin amyloidosis (ATTRv) is a rare genetic disorder caused by mutations in the TTR gene. Associated with various clinical phenotypes like polyneuropathy and cardiomyopathy, ATTRv has historically had poor outcomes. Recent advances in biotherapies… read more here.
Keywords: since advent; biotherapies france; screening since; ttr gene ... See more keywords
Liver‐directed drugs for transthyretin‐mediated amyloidosis
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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
Expanding the Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis: The Glu61Ala Variant
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DOI: 10.3390/jpm15020061
Abstract: Introduction. Hereditary transthyretin amyloidosis (hATTR) is a rare disorder with a largely variable worldwide prevalence, and it is caused by autosomal dominant mutations in the transthyretin (TTR) gene, leading to cardiological, neurological, or mixed phenotypes.… read more here.
Keywords: glu61ala variant; transthyretin amyloidosis; hereditary transthyretin; ttr gene ... See more keywords