Symptomatic Charcot-Marie-Tooth? A pair of concordant monozygotic twins

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Acta Neurol Scand. 2006 Dec;114(6):403-6.

Symptomatic Charcot-Marie-Tooth? A pair of concordant monozygotic

twins.

Braathen GJ, Sand JC, MB.

Faculty Division Akershus University Hospital, University of Oslo,

Oslo, Norway.

Background - A pair of monozygotic twin brothers were referred due

to hereditary peripheral neuropathy resembling late onset Charcot-

Marie-Tooth (CMT).

Aim of the study - Diagnostic classification of the twin pair.

Method - Clinical, neurological, genetical and neurophysiological

examination, and molecular genetic testing.

Results - The clinic and neurophysiology was compatible with CMT

disease with late onset. Molecular genetic analysis excluded

mutations in PMP22, connexin32, MPZ, LITAF and MFNZ genes, as well

as duplication and deletion of PMP22.

Conclusions - The twins were employed in PVC production and

developed symptoms after 14 years of massive exposure. We think that

the heavy exposure to various neurotoxic compounds caused symptoms

that mimic late-onset CMT. However, the twins had distal dysesthesia

which is unusual in inherited neuropathies. This illustrates the

importance of an occupational history even in the molecular genetic

era.