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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-Lévy syndrome. Of the patients with a CMT phenotype,(More)
Hereditary motor and sensory neuropathies, to which Charcot-Marie-Tooth (CMT) disease belongs, are a common cause of disability in adulthood. Growing awareness that axonal loss, rather than demyelination per se, is responsible for the neurological deficit in demyelinating CMT disease has focused research on the mechanisms of early development, cell(More)
Morphological and functional studies have been performed on experimental vitamin E deficient rats. The predominant morphological change was axonal dystrophy and degeneration in the rostral parts of the dorsal columns, particularly in the gracile fasciculi. The dystrophic changes comprised focal axonal swellings containing accumulations of normal and(More)
Charcot-Marie-Tooth disease type 1A, a hereditary demyelinating neuropathy, is usually caused by overexpression of peripheral myelin protein 22 (PMP22) due to a genomic duplication. We have generated a transgenic mouse model in which mouse pmp22 overexpression can be regulated. In this mouse model, overexpression of pmp22 occurs specifically in Schwann(More)
Ultrastructural observations have been made on the tibial and plantar nerves of Wistar rats aged 18-24 months. Changes indicative of segmental demyelination and remyelination and axonal degeneration and regeneration were prominent in the plantar nerves. Both in the plantar and tibial nerves, but particularly in the former, axonal abnormalities were(More)
Freeze-fracture observations have been made on unfixed cryoprotected, and glutaraldehyde-perfused and cryoprotected rat sciatic nerve. In the juxtaparanodal region of the internode, numerous particle clusters were observed on the axolemmal E face and rings of particles of uniform size on the P face of the adaxonal Schwann cell membrane. Both of these(More)
Freeze-fracture studies on myelinated fibres from the internodal regions of rat and mouse sciatic nerve show symmetrical particle aggregates within the adaxonal Schwann cell plasmalemma and particle clusters in the axolemma. These are mainly confined to the vicinity of the internal mesaxon and the Schmidt-Lanterman incisures. The Schwann cell particle(More)
Observations have been made on a selected series of insulin-dependent patients with neuropathy, subdivided into three groups: (1) severe autonomic neuropathy with an accompanying painless sensory neuropathy; (2) severe autonomic neuropathy with a chronic painful sensory neuropathy; and (3) chronic or acute painful sensory neuropathy with no autonomic(More)
Nine cases are described of a demyelinating peripheral neuropathy that had an onset in infancy. The clinical features conformed to those of type III hereditary motor and sensory neuropathy or Dejerine-Sottas disease. All showed a severe neurological deficit and had profoundly reduced nerve conduction velocities. Amongst these cases we identified four novel(More)