Novel Cx32 mutation causes X-linked CMT with brainstem involvement and brain mag

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Neurol Sci. 2006 Apr;27(1):18-23. Related Articles, Links

A novel Cx32 mutation causes X-linked Charcot-Marie-Tooth disease

with brainstem involvement and brain magnetic resonance spectroscopy

abnormalities.

Murru MR, Vannelli A, Marrosu G, Cocco E, Corongiu D, Tranquilli S,

Cherchi MV, Mura M, Barberini L, Mallarini G, Marrosu MG.

Centro Sclerosi Multipla, Ospedale Binaghi, Via I. Guadazzonis 2, I-

09126, Cagliari, Italy.

The objective of this study was to study genetic and phenotypic

features of a family with X-linked Charcot-Marie-Tooth consisting of

a healthy father, affected mother, two affected sons and one healthy

one. A detailed electrophysiological and neuroimaging study, along

with sequencing of the Cx32 gene, was performed in all family

members. A novel Cx32 123 G>C mutation, determining an aminoacid

variation (Glu41Asp), was found in the mother and the affected sons.

An alteration in brainstem evoked potentials was found in the mother

and one affected son. The affected son, who underwent magnetic

resonance imaging, showed symmetrical hyperintensities in

paratrigonal white matter, not found in his heterozygous mother,

while both subjects exhibited alterations in brain metabolite ratios

derived from localised proton-magnetic resonance spectroscopy. These

data extend previous findings about central nervous system

involvement in Cx32 mutated subjects and further support a functional

role of the protein expression in oligodendrocytes.

[Guest guest]

Hello Gretchen,

Does this study mean that CMT-X is about to get another name? I beginning to

think that the definition of CMT is only a collection of similar symptoms and

defined by epidemilogy MOSTLY in results. Now we are back to 1896!

I have an 83 year old friend who has been diagnosed as having a

PARKINSON'S LIKE disease. They really do not know actually what it is,

but it does respond to the typical treatment, i.e. Sinemet.

EdM from NH