Article
Ultra-rare variants in LAMA2 are risk factors for frontotemporal dementia and motor neuron disease.
Human molecular genetics - 11 May 2026
Lok Hiu Chuen, Dobson-Stone Carol, Hallupp Marianne, Matis Sophie, Landin-Romero Ramon, Guennewig Boris, Mundell Hamish, Don Anthony S, Fifita Jennifer, McCann Emily P, Fat Sandrine Chan Moi, Blair Ian P, Mather Karen A, Thalamuthu Anbupalam, Wen Wei, Sachdev Perminder S, Brooks William S, Piguet Olivier, Halliday Glenda M, Kim Woojin S, Kwok John B
Abstract excerpt
There is overlap between frontotemporal dementia (FTD) and motor neuron disease (MND) in terms of genetics, neuroimaging and clinical phenotypes. We aimed to identify in three patient cohorts, ultra-rare variants (frequency ≤ 0.00002) in genes whose mutations are associated with white matter dysfunction, and to examine impact of these variants on protein function in vitro, and neuroimaging and lipid profiles in...
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