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Mitofusin 2 gene mutation (R94Q) causing severe early‐onset axonal polyneuropathy (CMT2A)
Author(s) -
Neusch C.,
Senderek J.,
Eggermann T.,
Elolff E.,
Bähr M.,
SchneiderGold C.
Publication year - 2007
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.2006.01688.x
Subject(s) - mfn2 , medicine , locus (genetics) , disease , mutation , central nervous system , gene , neuroscience , genetics , pathology , biology , mitochondrial dna , mitochondrial fusion
Charcot‐Marie‐Tooth disease (CMT) has been classified into two types: demyelinating forms (CMT1) and axonal forms (CMT2). Mutations in the CMT2A locus have been linked to the KIF1B and the mitofusin 2 ( MFN2 ) genes. Here, we report a German patient with CMT2 with an underlying spontaneous mutation (c.281G→A) in the MFN2 gene. Clinically, the patient presented with early‐onset CMT that was not associated with additional central nervous system pathology. The disease course was rapidly progressive in the first years and slowed afterwards. We also suggest that single patients with early‐onset axonal polyneuropathies should be screened for MFN2 mutations.