Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation

P Seeman; R Mazanec; K Huehne; P Suslíková; O Keller; B Rautenstrauss

doi:10.1212/01.wnl.0000134605.61307.de

Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation

Neurology. 2004 Aug 24;63(4):733-5. doi: 10.1212/01.wnl.0000134605.61307.de.

Authors

P Seeman¹, R Mazanec, K Huehne, P Suslíková, O Keller, B Rautenstrauss

Affiliation

¹ Department of Child Neurology, Second School of Medicine, Charles University Prague, V úvalu 84, 150 06 Praha 5, Czech Republic. pavel.seeman@lfmotol.cuni.cz

PMID: 15326256
DOI: 10.1212/01.wnl.0000134605.61307.de

Abstract

A Czech family with three individuals carrying a novel mutation, 290 A-->T (Glu97Val), in the myelin protein zero gene (P0) is reported. The two eldest carriers developed progressive sensorineural hearing loss and abnormal pupillary reaction at age 18. These preceded the onset of the classic signs of Charcot-Marie-Tooth disease (CMT) by more than a decade. Sural nerve biopsy and nerve conduction studies were compatible with the axonal type of CMT. The authors show that progressive hearing loss can be the first symptom in P0 mutation carriers.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Age of Onset
Aged
Amino Acid Substitution
Biopsy
Charcot-Marie-Tooth Disease / epidemiology
Charcot-Marie-Tooth Disease / genetics*
Czechoslovakia
Disease Progression
Exons / genetics
False Negative Reactions
Female
Hearing Loss, Sensorineural / genetics*
Humans
Male
Mutation, Missense*
Myelin P0 Protein / deficiency
Myelin P0 Protein / genetics*
Neural Conduction
Pedigree
Phenotype
Point Mutation*
Reflex, Abnormal / genetics
Reflex, Pupillary / genetics*
Sural Nerve / pathology

Substances

Myelin P0 Protein