Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A).
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.
Neusch
C
C
Department of Neurology, University Göttingen, Göttingen, Germany. cneusch@gwdg.de
Senderek
J
J
Eggermann
T
T
Elolff
E
E
Bähr
M
M
Schneider-Gold
C
C
D000328:Adult; D017668:Age of Onset; D001369:Axons / Q000378:metabolism / Q000473:pathology; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D020558:GTP Phosphohydrolases; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D005858:Germany; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics*; D018908:Muscle Weakness / Q000235:genetics / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D010525:Peripheral Nerves / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology*
D005819:Genetic Markers; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D020558:GTP Phosphohydrolases; C470018:MFN2 protein, human