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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)
Neurological complications due to the HIV itself became apparent early on in the course of the AIDS epidemic. The most feared were the cognitive and motor complications termed AIDS dementia complex or HIV-associated dementia. With the introduction of combination antiretroviral therapy, the incidence of HIV-associated dementia has been dramatically reduced.(More)
BACKGROUND Tremor is known to occur in patients with neuropathies although its reported prevalence varies widely. Tremor has been shown to cause disability in children with Charcot-Marie-Tooth disease but no data exit about the disability caused by tremor in inflammatory neuropathies. Little is known about the response of neuropathic tremor to treatment and(More)
BACKGROUND TRPV4 mutations have been identified in Charcot-Marie-Tooth type 2 (CMT2), scapuloperoneal spinal muscular atrophy and distal hereditary motor neuropathy (dHMN). OBJECTIVE We aimed to screen the TRPV4 gene in 422 British patients with inherited neuropathy for potentially pathogenic mutations. METHODS We sequenced TRPV4 coding regions and(More)
PURPOSE OF REVIEW The aim is to review the recent publications highlighting current areas of research on the subject of toxic and drug-related neuropathies. RECENT FINDINGS The emphasis in chemotherapy-induced peripheral neuropathy is on trying to elucidate underlying mechanisms using neurophysiological techniques, such as excitability studies. These data(More)
Mutations in HSPB1 are one of the commonest causes of distal Hereditary Motor Neuropathy (dHMN). Transgenic mouse models of the disease have identified HDAC6 inhibitors as promising treatments for the condition paving the way for human trials. A detailed phenotype and natural history study of HSPB1 neuropathy is therefore required in order to inform the(More)
OBJECTIVES Tremor in Charcot-Marie-Tooth disease (CMT) can be disabling. Cerebellar abnormalities are thought to underpin neuropathic tremor. Here, we aim to clarify the potential role of the cerebellum in CMT tremor. METHODS We assessed prevalence of tremor by questionnaire in 84 patients with CMT. Of those, 23 patients with CMT with and without arm(More)
OBJECTIVES This study aims to investigate if patients with inflammatory neuropathies and tremor have evidence of dysfunction in the cerebellum and interactions in sensorimotor cortex compared to nontremulous patients and healthy controls. METHODS A prospective data collection study investigating patients with inflammatory neuropathy and tremor, patients(More)
Peripheral nerve disorders have been a Cinderella subspecialty for neurologists because of the limited treatment options and difficulties in obtaining a genetic diagnosis. In the last decade, there has been great progress in the management of patients with peripheral nerve disease. In this paper, we review a selection of diagnostic and therapeutic papers in(More)