Heterozygous <i>DHTKD1</i> Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients.

Furthermore, patients carrying a DHTKD1 variant more frequently showed severe axonal damage (mean compound motor action potential < 1 mV in median nerve) at initial diagnosis compared to non-variant carriers (3/9, 33.3% versus 14/150, 9.3%; p = 0.057, two-sided Fisher’s exact test), although not quite statistically significant. 4.

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Similarly, nerve conduction studies showed more severe axonal damage in ALS patients with rare DHTKD1 variants compared to non-variant carriers, although these results only reached borderline significance.

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