Brain, Vol 121, Issue 3 399-408, Copyright © 1998 by Oxford University Press
L Kalaydjieva, A Nikolova, I Turnev, J Petrova, A Hristova, B Ishpekova, I Petkova, A Shmarov, S Stancheva, L Middleton, L Merlini, A Trogu, JR Muddle, RH King and PK Thomas
A previously unrecognized neuropathy was identified in Bulgarian gypsies,
and was designated hereditary motor and sensory neuropathy-Lom (HMSNL)
after the town where the initial cases were found. It was subsequently
identified in other gypsy communities. The disorder, which is of autosomal
recessive inheritance, was mapped to chromosome 8q24. It begins
consistently in the first decade of life with gait disorder followed by
upper limb weakness in the second decade and, in most subjects, by deafness
which is most often first noticed in the third decade. Sensory loss
affecting all modalities is present, both this and the motor involvement
predominating distally in the limbs. Skeletal deformity, particularly foot
deformity, is frequent. Severely reduced motor nerve conduction velocity
indicates a demyelinating basis, which was confirmed by nerve biopsy. The
three younger patients biopsied showed a hypertrophic 'onion bulb'
neuropathy. The hypertrophic changes were not evident in the oldest
individual biopsied and it is likely that they had regressed secondarily to
axon loss. In the eight cases in which brainstem auditory evoked potentials
could be recorded, the results suggested demyelination in the eighth
cranial nerve and also abnormal conduction in the central auditory pathways
in the brainstem. As no myelin genes are known to be located at chromosome
8q24, the disorder may involve a gene for a novel myelin protein or be due
to an abnormality of axon-Schwann cell signalling.
ARTICLES
Hereditary motor and sensory neuropathy--Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings
Edith Cowan University, Perth, Australia.
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