[Quantitative changes of myelinated nerve fibers and their significance in peripheral nerve diseases. 1. Ethambutol neuropathy and diabetic neuropathy].
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Omics in hereditary optic neuropathies: A systematic review of clinical studies with an integrated point of view.
Hereditary optic neuropathies are characterized by bilateral visual loss due to the degeneration of retinal ganglion cells, resulting in optic nerve degeneration and atrophy. Although the genetic origin of the main isolated and syndromic hereditary optic neuropathies has been characterized, the clinical phenotypes exhibit significant and poorly understood variability in both penetrance and expressivity. Additionally, the genetic and environmental factors that influence the onset of these optic neuropathies remain poorly understood, with limited biomarkers to predict disease progression or as readouts for therapeutic trials. Data-driven omics strategies allow deep phenotyping to improve our understanding of pathophysiological mechanisms and to search for new biomarkers and therapeutic targets. We explore whether the omics strategies applied to patients with hereditary optic neuropathies have provided such new insights. MEDLINE, Web of Science and EMBASE databases were screened for studies with terms relating to hereditary optic neuropathies, transcriptomics, epigenomics, proteomics, metabolomics and lipidomics in clinical studies exploring patients' samples. Out of 1244 references identified, 22 articles were included after double-masked data curation. These articles focused only on the 3 main forms of hereditary optic neuropathies, namely, OPA1-related dominant optic atrophy (n = 4), Leber hereditary optic neuropathy (n = 13), and Wolfram syndrome (n = 5). While the methodological designs and results of these studies were highly heterogeneous, they revealed molecular alterations that we have attempted to discuss at the integrated multi-omics level. This data integration highlighted several common pathophysiological mechanisms such as energetic impairment, endoplasmic reticulum stress, proteotoxic and oxidative stresses, lipid remodeling and altered amino acid and purine metabolisms, while suggesting potential new biomarkers and therapeutic targets. These findings underscore the potential of integrated multi-omics approaches to deepen our understanding of the phenotypic complexity of hereditary optic neuropathies and to support the development of innovative diagnostic and therapeutic strategies.
Humans↗
Neurophysiological aspects of peripheral neuropathies.
1. Eighty-eight intrafascicular neural recordings were obtained in 10 normal subjects, 5 patients with axonal degeneration and 11 patients with demyelinating neuropathy. 2. Stimulus levels required for perception and fibre activation were higher in neuropathic subjects. Fibres transmitting touch perception had significantly lower conduction velocities in both patient groups, but were very much lower in the group with demyelinating neuropahty than the group with axonal degeneration. Maximum electrical stimulation evoked dispersed fibre responses in the axonal degeneration group and more dispersed, slowly conducting fibre potentials in the demyelinating group. In patients with hypertrophic Charcot-Marie-Tooth disorder, usually only a small group of slowly conducting low amplitude potentials was recorded. 3. Delivery of a train of supramaximal stimuli caused prolongation of latency and dispersion of fibre potentials in all microneurographic recordings. The changes were significantly greater in the axonal neuropathy group than in normals, and recovery was slower. The demyelinating neuropathies showed significantly greater changes than both the normal and the axonal neuropathy groups, and post-tetanic conduction slowing became even more marked after limb temperature was raised. 4. Surface SAP recordings showed normal refractory period in chronic axonal neuropathy but significant latency prolongation occurred in demyelinating neuropathy. 5. It is concluded that both receptor and nerve fibre abnormalities contribute to sensory dysfunction in degenerative and demyelinating neuropathies.
Action Potentials↗
Carcinomatous versus radiation-induced brachial plexus neuropathy in breast cancer.
A retrospective study was performed of 18 women in whom ipsilateral brachial plexus neuropathy developed after treatment for carcinoma of the breast. In the absence of metastatic tumor elsewhere, the only distinguishing feature between carcinomatous neuropathy and radiation-induced neuropathy was the symptom-free interval after mastectomy and radiation therapy. Women with an interval of less than a year have radiation-induced neuropathy. Brachial plexus exploration in difficult diagnostic situations will permit early treatment and avoid debilitating loss of function. Brachial plexus exploration for biopsy is safe and free of complications if performed carefully. Treatment of carcinomatous neuropathy is most likely to succeed if the tumor is hormonally sensitive, but radiotherapy may also be effective. Treatment of radiation-induced neuropathy remains largely ineffective.
Adenocarcinoma↗
Neuropathy, M components, and amyloid.
Of eighty-seven patients with nonhereditary systemic amyloidosis, ten had evidence of peripheral neuropathy. There was median-nerve neuropathy due to infiltration of the flexor retinaculum with amyloid in six patients. Two patients had diffuse sensorimotor neuropathy and two patients had sensory loss without evidence of motor impairment--three of these cases had amyloid deposition demonstrated by nerve biopsy. Neurological manifestations in all ten patients preceded other evidence of amyloidosis by 6 months-4 years (mean, 1 to 5 years). Neuropathy occurred in six of thirty-eight patients with primary amyloidosis and four of fourteen with amyloidosis associated with malignant B-cell dyscraias; and all patients with neuropathy had either a serum-M-component or Bence-Jones proteinuria. In contrast, neuropathy was not noted in any of the fifty-six patients in this series who had no evidence of a monoclonal gammopathy (thirty-five with secondary and twenty-one with primary amyloidosis).
Amyloidosis↗
Recurrent brachial plexus neuropathy.
The clinical, electrophysiological and pathological changes in 3 patients with recurrent attacks of non-traumatic brachial plexus neuropathy have been described. Two had recurrent attacks and a dominant family history of similar attacks, together with evidence of lesser degrees of nerve involvement outside the brachial plexus. In one patient the attacks were moderately painful, while in the other there was little or no pain. Only one showed undue slowing of motor nerve conduction during ischaemia, but in both cases the sural nerves had the changes of tomaculous neuropathy, with many sausage-shaped swellings of the myelin sheaths, and extensive segmental demyelination and remyelination. The third patient had two attacks of acute brachial plexus neuropathy which were both extremely painful. The clinical features were compatible with a diagnosis of neuralgic amuotrophy. In the second attack, there was vagus nerve involvement and the sural nerve showed evidence of healed extensive segmental demyelination. The various syndromes presenting with acute non-traumatic brachial plexus neuropathy are reviewed, and a tentative nonsological classification advanced. Most patients fall into the category of acute, painful paralysis with amyotrophy, with no family history and no evidence of lesions outside the brachial plexus. It is suggested that the term "neuralgic amyotrophy" be restricted to this group. Patients with features outside this clinical picture probably suffer from other disease entities presenting with brachial plexus neuropathy. The familial cases constitute one or more aetioliogical subgroups, differing from neuralgic amyotrophy in the frequency of recurrences, the relative freedom from pain in the attacks, the frequency of nerve lesions outside the brachial plexus, and of hypotelorism. Individual attacks of acute brachial plexus neuropathy, however, may be identical in patients with the different diseases, and further pathological and biochemical studies are awaited to aid in nosology.
Acute Disease↗
Electrophysiologic changes in uremic neuropathy after successful renal transplantation.
The pattern of electrophysiologic abnormalities in uremic neuropathy was studied in 17 patients near the time of successful renal transplantation and for an average of 2 years (4 to 68 months) afterward. Initially, sensory and motor conduction velocities were reduced, distal latencies were lengthened, and evoked action potentials were reduced or dispersed. These abnormalities were most marked in clinically severe neuropathies and were consistent with the combined presence of axonal degeneration and segmental demyelination. Following transplantation, there was a sustained improvement in motor and sensory conduction velocities but less consistent improvement in evoked action potentials. In severe neuropathies, action potentials tended to remain reduced or absent. The results suggest that the main reason for improvement in the neuropathy is segmental remyelination, some fibers remaining degenerate in severe neuropathies. In four patients, late failure occurred in the transplanted kidney, which was accompanied by recurrence of neuropathy. In each patient, a second successful transplant effected improvement for a second time.
Action Potentials↗
Peripheral neuropathy associated with cis-dichlorodiammineplatinum (II) treatment.
Peripheral neuropathy developed in two cases of recurrent bladder carcinoma treated with Cis-dichlorodiammineplatinum (II) (DDP) at a dose of 75 mg/m2 IV every 3 weeks. The neuropathy appeared in both patients while they were achieving a subjective and objective response to DDP. The neuropathy was reversible in one patient. In the other patient, a disabling sensory neuropathy progressed despite cessation of therapy. The temporal relationship between the neurological symptoms and the administration of DDP implicate this drug as the possible causative agent in the peripheral neuropathy.
Aged↗
The natural history of peripheral neuropathy in primary systemic amyloidosis.
The records of 31 patients with primary systemic amyloidosis and peripheral neuropathy seen during a 17-year period were analyzed to define the natural history of the neuropathy. Patients tended to be older men with a painful, distal, symmetrical sensorimotor neuropathy and prominent autonomic features. Loss of pain and temperature sensation was frequently more striking than loss of mechanoreception. Renal, cardiac, hematological, and gastrointestinal dysfunction often overshadowed the neuropathy. Clinical, neurophysiological, and histopathological studies pointed to axonal degeneration with predominant but not exclusive involvement of small myelinated and unmyelinated fibers. The neuropathy was progressive in all patients with or without treatment, but death was typically due to supervening medical complications.
Aged↗
Screening for peripheral neuropathy in patients treated by chronic hemodialysis.
Observations were made on the occurrence of peripheral neuropathy in a series of 139 patients admitted to a chronic dialysis program over a 10-year period. Evidence of neuropathy was obtained in approximately 50% of these patients over the total period. Once dialysis was instituted, distal paresthesiae evident before the inception of dialysis tended to clear rapidly. Occurrence of the symptom of "restless legs" correlated positively with the presence of neuropathy. Persistent neuropathy was more commonly sensory than motor, and its features were consistent with a predominant loss of large myelinated fibers. This analysis suggests that multiple factors may be involved in the origin of uremic neuropathy.
Adult↗
Peripheral neuropathy and indomethacin.
A patient with seronegative inflammatory polyarthritis developed a predominantly motorperipheral neuropathy associated with the use of indomethacin. Three other cases of peripheral neuropathy associated with indomethacin treatment have been reported to the Committee on Safety of Medicines. In all cases the neuropathy regressed when indomethacinwas stopped. Peripheral neuropathy should be recognized as a rare complication of indomethacin therapy and considered in the differential diagnosis of a neuropathy accompanyingrheumatoid arthritis.
Aged↗
Significance of immunoglobulin deposition in peripheral nerve in neuropathies associated with paraproteinaemia.
Direct and indirect immunofluorescent studies of sural nerves were carried out in two patients with paraproteinaemia and neuropathy, in four other patients with axonal or demyelinating neuropathies, and in one normal sural nerve. IgM was demonstrated directly in the two cases of paraproteinaemia and neuropathy, and indirectly, using the serum of one of these cases, in a case of axonal neuropathy and in one case of chronic Guillain-Barré syndrome. In the latter case, IgM deposition also occurred after exposure to normal serum. These results suggest that the paraprotein itself did not directly cause neuropathy, but that immunoglobulin deposition is probably a secondary process, caused by diffusion into damaged nerves.
Aged↗
A novel mutation in SORD gene associated with distal hereditary motor neuropathies.
BACKGROUND: Distal hereditary motor neuropathy (dHMN) is a heterogeneous group of hereditary diseases caused by the gradual degeneration of the lower motor neuron. More than 30 genes associated with dHMN have been reported, while 70-80% of those with the condition are still unable to receive a genetic diagnosis. METHODS: A 26-year-old man experiencing gradual weakness in his lower limbs was referred to our hospital, and data on clinical features, laboratory tests, and electrophysiological tests were collected. To identify the disease-causing mutation, we conducted whole exome sequencing (WES) and then validated it through Sanger sequencing for the proband and his parents. Silico analysis was performed to predict the pathogenesis of the identified mutations. A literature review of all reported mutations of the related gene for the disease was performed. RESULTS: The patient presented with dHMN phenotype harboring a novel homozygous variant c.361G > C (p.Ala121Pro) in SORD, inherited from his parents, respectively. A121 is a highly conserved site and the mutation was categorized as "likely pathogenic" according to the criteria and guidelines of the American College of Medical Genetics and Genomics (ACMG). A total of 13 published articles including 101 patients reported 18 SORD variants. Almost all described cases have the homozygous deletion variant c.757delG (p.A253Qfs*27) or compound heterozygous state of a combination of c.757delG (p.A253Qfs*27) with another variant. The variant c.361G > C (p.Ala121Pro) detected in our patient was the second homozygous variant in SORD-associated hereditary neuropathy. CONCLUSION: One novel homozygous variant c.361G > C (p.Ala121Pro) in SORD was identified in a Chinese patient with dHMN phenotype, which expands the mutation spectrum of SORD-associated hereditary neuropathy and underscores the significance of screening for SORD variants in patients with undiagnosed hereditary neuropathy patients.
Humans↗
Lipid abnormalities in hereditary neuropathy. Part I. Serum non-polar lipids.
The non-polar lipids from sera of 54 patients, with various types of hereditary motor and sensory neuropathies, and from 72 healthy subjects were evaluated. A small but highly significant decrease in the percentage of linoleate to total fatty acids in both cholesteryl ester and triglyceride fractions was found in the sera of the neuropathy patients, except in those who had dominantly inherited sensory neuropathy (HSN-I) and who had spinocerebellar degeneration with retinitis pigmentosa and other features (SpC+). A significant decrease of serum lecithin-cholesterol acyltransferase activity was also found in those patients with hereditary motor and sensory neuropathies, Type I and Type II (two types of peroneal muscular atrophy). The biochemical basis of these abnormalities is not apparent. The biochemical abnormalities reported here have been found in several neurologic disorders and hence are unlikely to be disease-specific.
Adolescent↗
Neuropathy in hepatic disorders. A clinical, electrophysiological and histopathological appraisal.
The present study deals with 30 patients with cirrhosis of the liver and 12 patients with infective hepatitis who were studied clinically, neurophysiologically and histopathologically for the presence of neuropathy. Simultaneously, 13 healthy individuals were evaluated as controls. Clinical evidence of neuropathy was found in 63.3% of the patients with hepatic cirrhosis and in 16.6% of the patients with infective hepatitis. In hepatic cirrhosis, the conduction velocities were abnormal in 33.3% and histopathological demyelination was found in 80% of the patients. In infective hepatitis, on the other hand, altered nerve conduction velocities were found in 41.6% and segmental demyelination in 75% of the patients. Our data reveal that peripheral nerve involvement is seen both in chronic and acute liver disorders. The neuropathy in hepatic cirrhosis is unrelated to diabetes, alchoholism or portacaval shunt and may be due to unknown metabolic abnormality or to toxins. In infective hepatitis, the neuropathy may either be due to some acute metabolic derangement or may be purely viral in origin.
Adult↗
A micro-electrode study of peripheral neuropathy in man. Part 1. Responses to single graded stimuli.
Multi-unit micro-electrode recording were obtained from sensory fascicles of the sural and median nerves of 12 control subjects and of 28 patients with peripheral neuropathy. Spontaneous activity and mass responses to mechanical and electrical stimuli were examined. Mechanoreceptor function appeared normal but there was a reduced number of responsive receptors in peripheral neuropathy. The electrical activation threshold of nerve fibres of all conduction velocities was increased in neuropathy and a greater number of fibres needed to be activated for preception to occur. Clinical sensory impairment was associated with a reduction in size of the initial compound action potential of the maximal evoked neurogram and with dispersion of fibre responses. Pathological slowing of fibre conduction velocity was demonstrated in demyelinating neuropathy but in most cases of axomal degeneration the changes in velocity could have been due either to a reduced number of fast conducting fibres, or to conduction block. No changes were observed in C-fibre activity in these patients.
Adult↗
Examining the impact on quality-of-life of those living with inherited optic neuropathies: an updated systematic review.
BACKGROUND: Inherited optic neuropathies (IONs) cause progressive visual loss and substantially affect quality of life. This updated systematic review aims to synthesize and evaluate evidence on the patient experience of living with IONs, identify currently used assessment tools, and highlight areas for improvement in research and clinical care. METHODS: We systematically searched MEDLINE, EMBASE, PsycINFO, CINAHL, and Scopus for studies on (i) inherited optic neuropathies; (ii) quality of life or health status; (iii) patient-reported outcome measures; and/or (iv) qualitative research. Inclusion was restricted to peer-reviewed studies. Screening, data extraction, and risk of bias assessment were conducted using Covidence. RESULTS: From 1775 unique records, 5 studies met the inclusion criteria. They evaluated quality-of-life outcomes in patients with Leber hereditary optic neuropathy or autosomal-dominant optic neuropathy across 6 countries. Patient-reported outcome measures used included National Eye Institute Visual Functioning Questionnaire-39, National Eye Institute Visual Functioning Questionnaire-25, Short-Form 12 Health Survey, Beck Depression Inventory, and Pittsburgh Sleep Quality Index. Only one study used qualitative interviews to explore the emotional, social, and financial impacts on patients and families. DISCUSSION: This updated systematic review builds upon previous work to further characterize the impact of ION on patients living with these conditions and the tools currently used to assess them. We highlight the need for a multifaceted approach to ION management, combining medical treatment with comprehensive psychosocial support to work toward more patient-centred care and improved quality of life for those living with these challenging conditions.
Humans↗
Neurotoxicity of acrylamide and its analogues and effects of these analogues and other agents on acrylamide neuropathy.
N-Hydroxymethylacrylamide, N-methylacrylamide, and N,N-diethylacrylamide produce peripheral neuropathy in rats. Seven other compounds related to acrylamide do not produce neuropathy. Rats given one of the three neurotoxic compounds are more susceptible to acrylamide. A regime for testing acrylamide analogues for neuro-toxicity is suggested. DDT, phenobarbitone, or high dietary concentrations of vitamin A or E have no effect on the development of acrylamide neuropathy in rats. Acrylamide produces neuropathy in hens but not in frogs or goldfish.
Acrylamides↗