Brain, Vol 120, Issue 3 465-478, Copyright © 1997 by Oxford University Press
PK Thomas, W Marques Jr, MB Davis, MG Sweeney, RH King, JL Bradley, JR Muddle, J Tyson, S Malcolm and AE Harding
Clinical and electrophysiological investigations and nerve biopsies were
carried out on 61 patients shown to have a chromosome 17p11.2 duplication
(hereditary motor and sensory neuropathy-HMSN Ia). Of these, 50 showed a
Charcot-Marie-Tooth (CMT) phenotype and eight could be classified as having
the Roussy-Levy syndrome. Of the patients with a CMT phenotype, three had
associated pyramidal signs and of these one had 'complicated' HMSN and also
signs of cerebellar and bulbar involvement. Diaphragmatic weakness was
present in three severely affected cases, one of whom also had denervation
of the anal sphincter associated with faecal incontinence. One unusual case
presented in middle life with incapacitating muscle cramps associated with
calf hypertrophy and only mild clinical signs of neuropathy. Prominent
distal sensory loss was a consistent feature in one family, resulting in
acrodystrophic changes in several members. Concurrent focal peripheral
nerve lesions were seen with both the CMT and Roussy-Levy phenotypes, in
seven patients. Upper limb motor nerve conduction velocity was 19.9 m/s +/-
1.3 (SEM), range 5-34 m/s. This corresponds to values previously obtained
for autosomal dominant HMSN I. This series consisted mainly of older
patients with more advanced disease. In contrast to the findings in younger
patients, in their nerve biopsies, myelin thickness tended to be relatively
reduced for axon size, indicating remyelination and/or hypomyelination;
there was also regression of the onion bulbs. It is concluded that the
possession of two copies of the peripheral myelin protein 22 gene within
the duplicated region on chromosome 17p gives rise to a range of phenotypes
and not solely to a CMT syndrome, and that the pattern of histological
change in the peripheral nerves alters with advance of the disease.
ARTICLES
The phenotypic manifestations of chromosome 17p11.2 duplication
University Department of Clinical Neurology, University of London, UK.
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