Search results for "Sural Nerve"
showing 10 items of 28 documents
Sural nerve biopsy studies in leigh's subacute necrotizing encephalomyelopathy
1986
Peripheral neuropathy marked by reduced nerve conduction velocities was found in four unrelated children, between the ages of 15 months and 9 years, whose autopsies revealed Leigh's subacute necrotizing encephalomyelopathy. Sural nerve biopsies disclosed primary demyelination and remyelination, as well as loss of myelinated and unmyelinated axons. The use of morphometric and electron microscopic studies shows that these techniques may reveal peripheral neuropathy in Leigh's disease more often than light microscopic methods alone.
A morphometric study on sural nerves in metachromatic leucodystrophy.
1987
This study reexamines peripheral neuropathy in infantile, juvenile and adult metachromatic leuco-dystrophy. A computer-assisted method was used which gives more detailed information on abnormal fibre structure from scatter diagrams of the g ratio (axon diameter/fibre diameter). The data show marked and statistically significant reductions in sheath thickness, particularly for the thick myelinated fibres, and most severe in the juvenile and adult forms. This is interpreted as evidence of remodelling of virtually the entire fibre population, without a clear-cut selectivity for either thin or thick fibres.
Mutations in theMORC2gene cause axonal Charcot–Marie–Tooth disease
2015
Charcot-Marie-Tooth disease (CMT) is a complex disorder with wide genetic heterogeneity. Here we present a new axonal Charcot-Marie-Tooth disease form, associated with the gene microrchidia family CW-type zinc finger 2 (MORC2). Whole-exome sequencing in a family with autosomal dominant segregation identified the novel MORC2 p.R190W change in four patients. Further mutational screening in our axonal Charcot-Marie-Tooth disease clinical series detected two additional sporadic cases, one patient who also carried the same MORC2 p.R190W mutation and another patient that harboured a MORC2 p.S25L mutation. Genetic and in silico studies strongly supported the pathogenicity of these sequence variant…
Hereditary motor sensory neuropathy type II with neurofilament accumulation: new finding or new disorder?
1985
Peroneal muscular atrophy is now known to be heterogeneous and to be due to various underlying genetic mechanisms. Exploring this heterogeneity further, we report on a German kinship with the clinical, genetic, and nerve conduction features of hereditary motor and sensory neuropathy type II (HMSN type II) but whose sural nerves on biopsy were found to show infrequent axonal swellings with neurofilament accumulations not previously described. The dominant inheritance and absence of kinky hair set this disorder apart from giant axonal neuropathy. There was no history of toxic exposure to industrial chemicals. We conclude that the disorder either is a new type of HMSN or is HMSN type II with p…
Oculopharyngeal muscular dystrophy in a northern German family linked to chromosome 14q, and presenting carnitine deficiency
1997
We report the evaluation of oculopharyngeal muscular dystrophy (OPMD) in a large northern German family, which can be traced back six generations and is unrelated to French-Canadian families. The symptoms in this family start at about 50 years of age and include dysphagia, bilateral ptosis, and in some cases a slowly progressive atrophy and weakness of other extraocular, facial or limb girdle muscles. The muscle biopsies showed the pathognomonic ultrastructural finding of characteristic intranuclear filaments. Linkage analysis confirmed that this family is also linked to chromosome 14q markers. Haplotype analysis revealed that a unique haplotype segregates with the disease which is differen…
Increased risk of sensory neuropathy in workers with chloracne after exposure to 2,3,7,8-polychlorinated dioxins and furans
1999
Objective - The existence of a peripheral neuropathy after exposure to polychlorinated dioxins (PCDD) is still discussed, as studies concerning dioxin effects on the peripheral nervous system are rare and contradictory. Material and methods - Clinical and neurophysiological examinations (motor conduction velocity of the peroneal nerve, sensory conduction velocities of the sural and ulnar nerves) were made in 156 dioxin exposed workers (42 with, 114 without cloracne) from one pesticide producing plant. Because of known risk factors for peripheral neuropathy, 7 workers with and 28 without cloracne were excluded from further analysis. Results - Workers with chloracne had a significantly higher…
Central motor conduction time by magnetic stimulation of the cortex and peripheral nerve conduction follow-up studies in Friedreich's ataxia.
1998
A follow-up clinical study, peripheral motor and sensory nerve conduction velocities and central motor conduction by magnetic stimulation of the cortex were performed in 13 patients with classical Friedreich's ataxia (FA) phenotype, for a period of 9-12 years. Clinical worsening was unrelated to peripheral nerve abnormalities. The amplitude of the nerve action potentials and delayed conduction velocity remained unchanged for several years. Central motor conduction times were abnormal in all patients. Clinical conditions worsened significantly between successive examinations with significant increments in threshold and significant decrement of the amplitude of motor evoked potentials. The re…
Endoscopic subfascial sectioning of incompetent perforating veins in treatment of primary varicosis
1992
Subfascial elimination of incompetent perforating veins is the most effective therapeutic principle in the treatment of trophic skin disorders associated with varicosis. A recently developed endoscopic technique allows accurate sectioning of perforating veins with direct observation of the veins and minor trauma. From November 1986 to July 1991 endoscopic sectioning of perforating veins was performed in 72 patients (103 legs). The most frequently transected perforating veins were Cockett's veins (n = 219), 24 cm perforating veins (n = 83), and Boyd's perforating veins (n = 82). Postoperative delayed wound healing was observed in 3 (2.9%) legs with pronounced trophic skin disorders in the lo…
Repair of the mandibular nerve by means of autologous nerve grafting after resection of the lower jaw
1973
Summary On the basis of two cases we demonstrate our method of autologous nerve grafting for substitution of the mandibular nerve after mandibular resection. The sural nerve served as a donor nerve, the graft was imbedded microsurgically at the juncture points by means of a perineurial interfascicular nerve suture. Oversized grafts of about 20 cm in length were chosen intentionally in order to insert them without tension between the stumps of the recipient nerve and outside the regeneration zone of the bone. In both cases complete resensibilization of the lower lip was reached after about six months.
Myasthenia gravis associated with Charcot-Marie-Tooth neuropathy: report of a case
1992
We report the case of a 24 year old woman who developed myasthenia gravis in the course of a mild form of Charcot-Marie-Tooth neuropathy. We describe the clinical manifestations together with the neurophysiological, pathological, serological findings and response to therapy and discuss the unusual association in the light of the relevant literature. © 1992 Masson Italia Periodici S.r.l.