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BACKGROUND Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous group of diseases with approximately 45 different causative genes described. The aims of this study were to determine the frequency of different genes in a large cohort of patients with CMT and devise guidelines for genetic testing in practice. METHODS The genes(More)
Although there are now widely accepted diagnostic criteria for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) there are few epidemiological data. A prevalence study was performed in the four Thames health regions, population 14 049 850. The prevalence date was 1 January 1995. Data were from a national consultant neurologist surveillance(More)
Twenty four patients who had undergone temporal lobe surgery for epilepsy were assessed to determine (a) whether or not they had developed a visual field defect and (b) if a field defect was present, were the visual field criteria, as required by the DVLA, fulfilled using the monocular Goldmann perimeter test and the automated binocular Esterman method(More)
Recently, two naturally occurring amino acid substitutions were identified in the C-terminal region of the serotonin 5-HT2A receptor. One of these, His452Tyr, has a rarer allele Tyr frequency of 9%. If 452Tyr alters 5-HT2A function, it would thus be a candidate allele for human neurobehavioral variation. The present study was designed to evaluate the(More)
The hereditary sensory and autonomic neuropathies (HSAN, also known as the hereditary sensory neuropathies) are a clinically and genetically heterogeneous group of disorders, characterised by a progressive sensory neuropathy often complicated by ulcers and amputations, with variable motor and autonomic involvement. To date, mutations in twelve genes have(More)
  • H Manji
  • 2000
Peripheral nerve complications in patients infected with HIV usually result from the virus itself, or are due to some of the antiretroviral drugs (zalcitabine, didanosine or stavudine). It may be difficult to distinguish between these two aetiologies on clinical or neurophysiological criteria. Since they are a significant cause of morbidity, a number of(More)
Mutation of the human prion protein gene (PRNP) open reading frame (ORF) accounts for almost all reported familial concurrence of prion disease. The more common mutations globally: octapeptide repeat insertions, P102L, D178N, E200K, and V210I have occurred in large multigenerational pedigrees and display autosomal dominant inheritance, however, many rare(More)
Two patients with AIDS and progressive neurological syndromes had necropsies that identified JC virus infection of the cerebral or cerebellar cortex. The unusual presentation of progressive multifocal leukoencephalopathy with grey matter involvement and normal cerebral imaging is discussed.
X-linked Charcot-Marie-Tooth disease (CMT1X) is the second most common cause of CMT, and is usually caused by mutations in the gap junction protein beta 1 (GJB1) gene which codes for connexin 32 (CX32). CX32 has three tissue-specific promoters, P1 which is specific for liver and pancreas, P1a specific for liver, oocytes and embryonic stem cells, and P2(More)