Search results for "neuropathy"

The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease

2015

Background and purpose A three-generation family affected by axonal Charcot−Marie−Tooth disease (CMT) was investigated with the aim of discovering genetic defects and to further characterize the phenotype. Methods The clinical, nerve conduction studies and muscle magnetic resonance images of the patients were reviewed. A whole exome sequencing was performed and the changes were investigated by genetic studies, in silico analysis and luciferase reporter assays. Results A novel c.1226G>A change (p.R409Q) in the EGR2 gene was identified. Patients presented with a typical, late-onset axonal CMT phenotype with variable severity that was confirmed in the ancillary tests. The in silico studies sho…

Acyclovir treatment in 2 patients with benign trigeminal sensory neuropathy

2001

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…

The spontaneous burst activity of peripheral blood monocytes in patients with acute polyradiculoneuritis, lymphocytic meningoencephalitis, and multip…

1986

Abstract The course of the spontaneous burst activity (BA) of peripheral blood monocytes was examined in patients with acute polyradiculoneuritis (PN), lymphocytic meningoencephalitis (LE), and multiple sclerosis (MS) and the BA was compared with the clinical course. In 4 patients with postinfectious acute PN the BA was significantly increased up to values around 60000 counts/10 s. The BA and the clinical course were closely correlated in these patients (mean of r = 0.83). In 4 patients with lymphocytic LE the BA initially was moderately increased to values between 4000 and 5000 counts/10 s and showed again a very close correlation with the clinical course (mean of r = 0.99) In 13 MS patien…

DNA-fragmentation and apoptosis-related proteins of muscle cells in motor neuron disorders

2009

Apoptosis has been described as one of the mechanisms of muscle fiber loss in infantile spinal muscular atrophy. In order to investigate if muscle fiber-apoptosis plays a role in other denervating disorders as well, we studied DNA-fragmentation, a hallmark of apoptosis, by the TUNEL-method and, moreover, the expression patterns of apoptosis-related proteins in 2 patients suffering from ALS and in 6 patients with polyneuropathy. We identified DNA-cleavage in muscle fibers of all these patients. Furthermore, we found strong expression of bax and ICE promoting apoptosis in muscle fibers. However, also strong expression of the anti-apoptotic factor bcl-2 was found. Our findings indicate that de…

GAA trinucleotide repeat expansion in variant Friedreich's ataxia families.

1997

Phenotypic variants in Friedreich's ataxia include late onset, preservation of the lower limbs tendon reflexes, and slow progression. We describe clinical and electrophysiological features from three families with Friedreichlike phenotypes. Friedreich's ataxia diagnosis was confirmed by finding two allelic expansions of the GAA trinucleotide repeat at the X25 gene. In family 1 both patients had a late-onset phenotype with preservation of knee and ankle jerks, lack of cardiomyopathy, and preserved H reflex. One of them did not have electrophysiologic evidence of sensory axonal neuropathy. Patients from family 2 showed variability in the age of onset, and 2 out of 3 affected children had hype…

F-Wave study in patients with chronic renal failure on regular haemodialysis

1986

Motor nerve conduction along the entire length of ulnar and tibialis posterior nerves was studied in 30 uraemic patients and in 20 control subjects. The M and F latencies, MNCV (between the stimulus sites), FWCV (between the spinal cord and the stimulus sites) and F-ratio (conduction time ratio of proximal to distal segment) were assessed to evaluate the conduction in the proximal versus the distal nerve segment. In the uraemic patients, the slowing of nerve conduction involved both segments of the tested nerves to the same extent. In fact, the F-ratio did not show any significant difference between the two groups; in only one patient was its value lower than the normal limit in the tibiali…

Neuromuscular electrophysiological disorders and muscle atrophy in mechanically-ventilated traumatic brain injury patients: New insights from a prosp…

2018

International audience; Erratum inCorrigendum to "Neuromuscular electrophysiological disorders and muscle atrophy in mechanically-ventilated traumatic brain injury patients: New insights from a prospective observational study" [J Crit Care 44 (2018) 87-94]. [J Crit Care. 2019]AbstractPURPOSE:It is unclear whether the muscular changes in mechanically-ventilated traumatic brain injury patients (TBI) are only associated with disuse or additionally to neuromuscular electrophysiological disorders (NED). The correlation between muscle atrophy and NED may affect functional outcomes and rehabilitation programs significantly.MATERIAL AND METHODS:An observational study was performed to investigate th…

Atypical CIDP: diagnostic criteria, progression and treatment response. Data from the Italian CIDP Database

2019

ObjectivesA few variants of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) have been described, but their frequency and evolution to typical CIDP remain unclear. To determine the frequency and characteristics of the CIDP variants, their possible evolution to typical CIDP, and treatment response.MethodsWe applied a set of diagnostic criteria to 460 patients included in a database of Italian patients with CIDP. Clinical characteristics and treatment response were reviewed for each patient. The Kaplan-Meier curve was used to estimate the progression rate from atypical to typical CIDP.ResultsAt the time of inclusion, 376 (82%) patients had a diagnosis of typical CIDP while 84 …

Induction of vascular endothelial growth factor release by transcutaneous frequency modulated neural stimulation in diabetic polyneuropathy

2008

Background: Pharmacological treatment for diabetic polyneuropathy (DP) has shown limited benefit; frequency-modulated electrical stimulation (FREMS) has shown positive results in pain control and nerve conduction velocity in DP. Objective: To investigate the effects of FREMS vs transcutaneous electrical nerve stimulation (TENS) on the release of vascular endothelial growth factor (VEGF) in Type 2 diabetic and in non-diabetic subjects. Methods: 10 non-diabetic [mean age 37±5 yr; females (F)/males (M): 6/4] and 10 Type 2 diabetic subjects (mean age 52±6 yr; F/M: 5/5) with DP underwent TENS (for 10 min) followed by 30 min interval without electrical stimulation, and then FREMS (for 10 min) ove…