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October 1, 2025Neurology GeneticsOpen Access

Association of the Recurrent ATP1 A1 Variant p.Gly549Arg With Intermediate CMT and Loss of Na,K-ATPase Function

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Authors

KSKerri SpontarelliJOJ. Fernando OliveraNCNicolas G. Colmano

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Overview

Case analysis identifies ATP1A1 variant linked to intermediate CMT, highlighting its impact on sodium pump function.

Key Points

  • The ATP1A1 p.Gly549Arg variant causes loss of sodium pump function in patients with intermediate CMT disease.
  • Clinical cases of two unrelated patients reveal consistent symptoms of dominant intermediate CMT linked to the variant.
  • Functional tests show impaired Na,K-ATPase activity due to the ATP1A1 variant, crucial for neuronal survival.
  • Findings suggest that specific genetic variants contribute significantly to the mechanisms underlying CMT neuropathies.

Cite This Study

Spontarelli et al. (2025) studied this question.

synapsesocial.com/papers/68dd91cbfe798ba2fc4989e9https://doi.org/10.1212/nxg.0000000000200309
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Also Consider

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  4. 4CAPOS and Beyond: ATP1A3 Variants in Pediatric Movement Disorders: Case Reports2025
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