Ultrasound and neurophysiological correlation in common fibular nerve conduction block at fibular head.

Objective: Ultrasound (US) and neurophysiological examination are useful tools in the evaluation of common fibular mononeuropathy. There is only a report comparing US and electrophysiological parameters in patients with common fibular nerve (CFN) conduction block at fibular head. We investigated the correlation between US and neurophysiologic findings in this condition.

Ultrasound evaluation in transthyretin-related amyloid neuropathy.

Introduction: Familial amyloid polyneuropathy is a rare condition caused by mutations of the transthyretin gene (TTR). We assessed the pattern of nerve ultrasound (US) abnormalities in patients with TTR-related neuropathy.

Methods: Seven patients with TTR-related neuropathy (TTR-N) and 5 asymptomatic TTR-mutation carriers (TTR-C) underwent neurological examination, nerve conduction studies, and US evaluation.

Lower limb antagonist muscle co-activation and its relationship with gait parameters in cerebellar ataxia.

Increased antagonist muscle co-activation, seen in motor-impaired individuals, is an attempt by the neuromuscular system to provide mechanical stability by stiffening joints. The aim of this study was to investigate the co-activation pattern of the antagonist muscles of the ankle and knee joints during walking in patients with cerebellar ataxia, a neurological disease that strongly affects stability. Kinematic and electromyographic parameters of gait were recorded in 17 patients and 17 controls.

Modulation of the human nociceptive flexion reflex by pleasant and unpleasant odors.

The nociceptive withdrawal reflex (NWR), a defensive response that allows withdrawal from a noxious stimulus, is a reliable index of spinal nociception in humans. It has been shown that various kinds of stimuli (emotional, visual, auditory) can modulate the transmission and perception of pain. The aim of the present study was to evaluate, by means of the NWR, the modulatory effect on the spinal circuitry of olfactory stimuli with different emotional valence.

Validation of Italian version of Brace Questionnaire (BrQ).

Background: Brace questionnaire (BrQ) is a tool used to evaluate Health Quality of Life (HRQoL) in patients with Adolescent Idiopathic Scoliosis (AIS) that undergo bracing treatment. The BrQ has not been translated and validated for Italian-speaking patients with AIS. The aim of the study was to perform a trans-cultural validation of BrQ to be used in an Italian speaking population.

fNIRS evaluation during a phonemic verbal task reveals prefrontal hypometabolism in patients affected by myotonic dystrophy type 1.

Objective: Myotonic dystrophy type 1 (DM1), the most common muscular dystrophy in adults, is characterized by a multisystem involvement. Cognitive involvement predominantly affecting frono-temporal functions is an established clinical feature in this disorder. Brain imaging and metabolic studies showed a predominant involvement of fronto-temporal regions in DM1 patients, yet correlation studies among these findings and neuropsychological data gave contrasting results.

Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: further expansion of the phenotype.

Background: Familial spinal neurofibromatosis is a form of neurofibromatosis 1 (NF1), consisting of extensive, symmetrical, histologically proven, multiple neurofibromas of the spinal roots at every level and of all major peripheral nerves sometimes associated with typical NF1 stigmata; most cases underlie NF1 gene mutations.

Objectives: The objectives of this study are (1) to report the findings in a set of 16-year-old monozygotic twin girls and a 14-year-old boy and (2) to review the existing literature.

Methods And Results: In this article, we report the cases of three children who (1) had manifested mildly different symptomatic neuropathy (twins, aged 4 years; and a boy, aged 9 years) associated with massive, symmetrical neurofibromas; (2) had few café-au-lait spots with irregular margins and pale brown pigmentation; (3) were presented with, at brain magnetic resonance imaging (MRI), bilateral, NF1-like high-signal abnormalities in the basal ganglia; (4) yielded missense NF1 gene mutations in exon 39; and (5) had unaffected parents with negative NF1 genetic testing as well as discuss 12 families and 20 sporadic and 5 additional cases that presented spinal neurofibromatosis within classical NF1 families (53 cases) that were reported in the literature.

Clinical-neurophysiological correlations in a series of patients with IgM-related neuropathy.

Objective: We aim to draw clinical-neurophysiological correlations in our cohort of patients affected by IgM-related neuropathy to investigate whether neurophysiological parameters may help differentiate the classical phenotype from atypical forms.

Methods: We retrospectively evaluated patients with IgM-related neuropathy referred to our Institute from 1990 to 2011. All patients underwent extensive laboratory, clinical and neurophysiological evaluation.

Motor nerve impairment in diabetic patients with symmetrical distal sensory polyneuropathy: a single nerve fiber conduction velocity study.

Introduction: In this study we investigated the clinical utility of single fiber conduction velocity (SF-CV) testing in the evaluation of motor nerve function in diabetic patients with signs and symptoms of symmetrical distal sensory polyneuropathy (DSP). SF-CV findings were compared with conventional nerve conduction studies (NCS).

Methods: Twenty-eight consecutive type 2 diabetic patients with clinically diagnosed DSP were studied.

Epidemiological, clinical, and molecular study of a cohort of Italian Parkinson disease patients: association with glutathione-S-transferase and DNA repair gene polymorphisms.

Parkinson's disease (PD) is one of the most common neurodegenerative disorders whose etiology is multifactorial including both hereditary and environmental factors. Currently, pathogenic mutations in at least five genes have been implicated in familial PD generally accounting for less than 10 % of all PD cases in most populations. It has been suggested that polymorphisms in other genes such as those encoding enzymes involved in oxidative metabolism and detoxification could be involved in predisposition to PD since oxidative stress in dopaminergic neurons is thought to be of central importance in the pathogenesis of the disease.

Diagnosis and therapy of myasthenia gravis with antibodies to muscle-specific kinase.

Myasthenia gravis (MG) with antibodies to the muscle-specific receptor tyrosine kinase (MuSK-MG) is a rare disease which covers 5-8% of all MG patients. Symptoms are nearly always generalized, though more focal than in MG with anti-acetylcholine receptor antibodies, with predominant involvement of cranial, bulbar and axial muscles; early respiratory crises are frequent. Focal atrophy, mostly of facial, masseter and tongue muscles, occurs in a proportion of patients.

Lenalidomide in patients with chemotherapy-induced polyneuropathy and relapsed or refractory multiple myeloma: results from a single-centre prospective study.

Lenalidomide, an immunomodulatory drug used in myeloma therapy, has been claimed to be less neurotoxic than thalidomide, but evidence is still weak. We prospectively assessed lenalidomide safety in myeloma patients to evaluate whether it would induce or modify a previously ensued chemotherapy-induced peripheral neuropathy (CIPN). Thirty consecutive patients (17 men, mean age 63.

Ultrasound diagnosis of bony nerve entrapment: case series and literature review.

Introduction: Nerve entrapment due to osseous callus formation is a rare complication after bone fracture. Electrodiagnostic studies and routine radiographic imaging often fail to demonstrate the pathology. The diagnosis is difficult and is often made incidentally upon surgical exploration.

Sudden stopping in patients with cerebellar ataxia.

Stopping during walking, a dynamic motor task frequent in everyday life, is very challenging for ataxic patients, as it reduces their gait stability and increases the incidence of falls. This study was conducted to analyse the biomechanical characteristics of upper and lower body segments during abrupt stopping in ataxic patients in order to identify possible strategies used to counteract the instability in the sagittal and frontal plane. Twelve patients with primary degenerative cerebellar ataxia and 12 age- and sex-matched healthy subjects were studied.

Ultrasonography in the diagnosis of peripheral nerve disease.

Introduction: High-resolution ultrasound (US) of the peripheral nerves is now a standard means of assessing neuromuscular disorders in many centers. Currently used in conjunction with electrodiagnostic (EDX) studies, nerve US is especially effective in the diagnosis of entrapment neuropathies.

Areas Covered: This article reviews the basic physics of peripheral nerve US, guidelines for its current use and future directions.

Strategies adopted by cerebellar ataxia patients to perform U-turns.

Cerebellar ataxia is associated with unsteady, stumbling gait, and affected patients report a high rate of falls, particularly during locomotor tasks. U-turns (180° turns while walking) require a high level of coordination in order to completely reverse the body trajectory during ongoing motion, and they are particularly challenging for patients with cerebellar ataxia. The aim of this study was to investigate the kinematic strategies adopted by ataxic patients when performing U-turns.

Ultrasound study is useful to discriminate between axonotmesis and neurotmesis also in very small nerves: a case of sensory digital ulnar branch study.

Discrimination between axonotmesis and neurotmesis is crucial in traumatic nerve injury. We present the case of a 43-year-old woman which presented hypoesthesia in the fourth and fifth right fingers, started after surgery for Dupuytren syndrome. At ultrasound study, the ulnar digital sensory branch was identified.