| Autor: |
Tomaselli, Pedro José, Blake, Julian, Polke, James M., do Nascimento, Osvaldo José Moreira, Reilly, Mary M., Marques Júnior, Wilson, Laurá, Matilde |
| Předmět: |
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| Zdroj: |
European Journal of Neurology; May2024, Vol. 31 Issue 5, p1-4, 4p |
| Abstrakt: |
Background and purpose: Charcot−Marie−Tooth disease type 1A (CMT1A) is the most prevalent hereditary neuropathy worldwide and classically has slow nerve conduction velocity (NCV), in most cases below 38 m/s. Two unrelated patients with motor NCVs in the upper limbs above 38 m/s are reported. Method: Case report. Results: Two genetically confirmed CMT1A patients are presented, from two unrelated families (one of British origin and the other of Brazilian origin). Both individuals had upper limb motor NCVs above 38 m/s, with values ranging from 41.9 to 45 m/s in the median nerve and from 42 to 42.3 m/s in the ulnar nerve. They presented with a very mild phenotype, with CMT Neuropathy Score version 2 (CMTNSv2) of 6 and 5, respectively. In contrast, affected family members within both kinships exhibited a classical phenotype with more severe disease manifestation (CMTNSv2 ranging from 12 to 20) and motor NCVs below 30 m/s. Conclusion: These cases, although very rare, highlight the importance of testing PMP22 duplication in patients with intermediate conduction velocities. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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