CMT and Hearing loss

[Guest guest]

Here is an interesting one on late onset CMT being preceded by hearing

loss. I say interesting as that is exactly what I experienced.

Brief Communications

Hearing loss as the first feature of late-onset axonal CMT disease due

to a novel P0 mutation

P. Seeman, MD, R. Mazanec, MD, K. Huehne, PhD, P. Suslíková, MD, O.

Keller, MD and B. Rautenstrauss, PhD

From the Departments of Child Neurology (Drs. Seeman and Suslíková)

and Neurology (Dr. Mazanec), Second School of Medicine,

University Prague, and Department of Neurology (Dr. Keller), Thomayer

Memorial and University Hospital, Prague Krc, Czech Republic; and

Institute of Human Genetics (Drs. Kuehne and Rautenstrauss),

University Erlangen, Germany.

Address correspondence and reprint requests to Dr. P. Seeman, DNA

Laboratory, Department of Child Neurology, Second School of Medicine,

University Prague, V úvalu 84, 150 06 Praha 5, Czech Republic

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.

Received December 4, 2003. Accepted in final form April 16, 2004.

Additional material related to this article can be found on the

Neurology Web site. Go to www.neurology.org and scroll down the Table

of Contents for the August 24 issue to find the title link for this

article.

Here is the URL: http://www.neurology.org/cgi/content/abstract/63/4/733

--Larry