Article
Motor neuron disease in three asymptomatic pVal50Met TTR gene carriers.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Nov 2022
Santos Silva Cláudia, Oliveira Santos Miguel, Gromicho Marta, Pronto-Laborinho Ana, Conceição Isabel, de Carvalho Mamede
Abstract excerpt
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 2 were a 43-year-old man with a spinal-onset of ALS and a 37-year-old woman with a bulbar-onset of ALS, who died due to respiratory complications five and two years...
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