Search results for "Neuropathy"

Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease

2007

Abstract Mutations in the mitochondrial protein GDAP1 are the cause of Charcot-Marie-Tooth type 4A disease (CMT4A), a severe form of peripheral neuropathy associated with either demyelinating, axonal or intermediate pheno-types. GDAP1 is located in the outer mitochondrial membrane and it seems that may be related with the mitochondrial network dynamics. We are interested to define cell expression in the nervous system and the effect of mutations in mitochondrial morphology and pathogenesis of the disease. We investigated GDAP1 expression in the nervous system and dorsal root ganglia (DRG) neuron cultures. GDAP1 is expressed in motor and sensory neurons of the spinal cord and other large neu…

Localization of the giant axonal neuropathy gene to chromosome 16q24

1998

Giant axonal neuropathy (GAN) is a degenerative disorder of the peripheral nerves that is inherited as an autosomal recessive trait, presenting in early childhood and progressing to death, usually by late adolescence. Diagnosis is made by peripheral nerve biopsy, in which a striking pathological finding is seen--fibers distorted by giant axonal swellings filled with densely packed bundles of neurofilaments (the primary intermediate filament in neurons), with segregation of other axoplasmic organelles. In addition to disorganized neurofilaments in nerve, disorganization of other members of the intermediate filament family of proteins is seen in other tissues; this implies that the underlying…

Relationship between deep and superficial sensitivity assessments and gait analysis in diabetic foot patients

2023

: Peripheral neuropathy is a prevalent complication of diabetes that can lead to gait impairment and its adverse consequences. This study explored the potential utility of different parameters of gait analysis using a single sensor unit as a simple tool to detect peripheral neuropathy in 85 diabetic patients (DP) with diabetic foot in whom different somato-sensitivity tests in the feet were performed. Gait spatiotemporal parameters were examined by sensor inertial measurement placed in the lumbar area, while the superficial sensitivity pathway was assessed by nociception tests and deep sensitivity was examined by light touch-pressure and vibration sensitivity tests. Correlations between eac…

Motor Conduction Studies and Handgrip in Hereditary TTR Amyloidosis: Simple Tools to Evaluate the Upper Limbs

2022

PurposeHereditary transthyretin amyloidosis with polyneuropathy (ATTRv) is caused by mutations in the TTR gene, leading to misfolded monomers that aggregate generating amyloid fibrils. The clinical phenotype is heterogeneous, and characterized by a multisystemic disease affecting the sensorimotor and autonomic functions along with other organs.Materials and MethodsAll the patients were assessed by complete neurological assessment, neurophysiological evaluation, of the median nerve, and handgrip analysis. The data are presented as means and standard deviations. Parametric and non-parametric assessments have been performed to identify differences between groups. Pearson's correlation has been…

A phase III trial of nab-paclitaxel versus dacarbazine in chemotherapy-naive patients (pts) with metastatic melanoma: Analysis of peripheral neuropat…

2013

e20025 Background: Peripheral neuropathy (PN) is a common side effect associated with taxane treatment. In a phase III trial, nab-paclitaxel vs dacarbazine demonstrated a significant improvement in progression-free survival (4.8 vs 2.5 months; P = 0.044) and at the interim survival analysis, a trend toward prolonged overall survival (12.8 vs 10.7 months; P = 0.094) for the treatment of chemotherapy-naive patients with metastatic melanoma. Here we report on the PN profile of nab-paclitaxel in this phase III trial. Methods: Pts (median age, 63 years) with chemotherapy-naive stage IV melanoma (M1c stage, 65%; elevated LDH, 28%) and an ECOG performance status 0-1 were randomized to nab-paclita…

Paraneoplastic motor neuron disease associated with breast cancer.

2014

Ozone therapy in idiopathic carpal tunnel syndrome. Biochemical, neurophysiological and clinical aspects

2018

Purpose.
 Idiopathic Carpal Tunnel Syndrome (CTS) is the most common entrapment neuropathy; however few and only retrospective studies have been found in search engines about Ozone Therapy. 
 The aim of this paper was to evaluate clinical and neurophysiological outcome following Ozone Therapy in CTS.
 We focused the attention on the evidences concerning the role of Subsynovial Connective Tissue (SSCT) in the pathogenesis of CTS and the ozone pre-conditioning effects linked to pain and inflammatory pathways and to fibrosis induced by Ischemia-Reperfusion Injury.
 
 Materials and methods.
 Thirty-five patients, aged between 21 and 80, were stratified clinically b…

Painful scar neuropathy: principles of diagnosis and treatment

2015

Nerve-tissue interactions are critical. Peripheral nerve injuries may involve intraneural and extraneural scar formation and affect nerve gliding planes, sometimes leading to complex clinical presentations. All of these pathological entities involve pain as the main clinical symptom and can be subsumed under the term "painful scar neuropathy". The authors review the literature on treatment approaches to peripheral nerve scar neuropathy and the outcomes of neurolysis-associated procedures and propose a simple classification and a therapeutic approach to scar neuropathy. The search retrieved twenty-one papers, twenty of which reported pain reduction or resolution with various techniques. Ther…

Paraneoplastic Focal Outer Retinitis and Optic Neuropathy in a Patient with Small Cell Lung Carcinoma and Anti-CRMP5, Anti-HU and Anti-Amphiphysin An…

2020

Our aim is to describe clinical and optical coherence tomographic features of acute paraneoplastic focal outer retinitis associated with optic neuropathy in a patient diagnosed with small cell lung carcinoma. Bilateral focal outer retinitis, bilateral optic disc oedema and vitritis were identified in a patient with progressive bilateral visual loss and ataxia. Spectral domain optical coherence tomography (SD-OCT) revealed various extents of granular hyperreflectivity and atrophy of the macular outer retinal layers. Serum and cerebrospinal fluid positivity for anti-CRMP5, anti-HU and anti-amphiphysin antibodies intensified the search for an underlying malignancy, and a small cell lung carcin…

Peripheral Neuropathy in the Hypereosinophilic Syndrome: A Case Report

1989

We observed a patient with the hypereosinophilic syndrome that showed as a prominent clinical feature peripheral nerve dysfunction. The neuropathy evolved over 4 months and affected sensory and motor functions. Nerve conduction studies and EMG were compatible with axonal neuropathy. Nerve and muscle biopsies revealed severe axonal degeneration with neurogenic atrophy of muscle. Morphometry of peroneal nerve showed marked axonal loss, more prominent in large myelinated fibers. There was no evidence of vasculitis process. Neuropathy is produced by eosinophil-released substances exerting a neurotoxic effect through direct altered vascular endothelial permeability and local mast cell histamine …