Intracortical motor conduction is associated with hand dexterity in progressive multiple sclerosis.

Background: Hand dexterity dysfunction is a key feature of disability in people with progressive multiple sclerosis (PMS). It underlies corticospinal tract (CST) and cerebellar integrity, as well as disruption of cortical networks, which are hardly assessed by standard techniques. Transcranial magnetic stimulation is a promising tool for evaluating the integrity of intracortical motor pathways.

Repetitive Transcranial Magnetic Stimulation With H-Coil Coupled With Cycling for Improving Lower Limb Motor Function After Stroke: An Exploratory Study.

Background/objectives: Repetitive transcranial magnetic stimulation (rTMS) has been recognized as a promising intervention for the treatment of post-stroke motor deficits. Here, we explore safety, feasibility, and potential effectiveness of high-frequency rTMS (HF-rTMS) delivered with the Hesed coil (H-coil) during active cycling on paretic lower extremity (LE) motor function in chronic stroke.

Materials And Methods: Twelve subjects with a first-ever stroke were recruited in this double-blind, placebo controlled, crossover study.

Serum phosphorylated neurofilament heavy-chain levels reflect phenotypic heterogeneity and are an independent predictor of survival in motor neuron disease.

To investigate the prognostic role and the major determinants of serum phosphorylated neurofilament heavy -chain (pNfH) concentration across a large cohort of motor neuron disease (MND) phenotypes. Enzyme-linked immunosorbent assay (ELISA) was used to measure serum pNfH concentration in 219 MND patients consecutively enrolled in our tertiary MND clinic. A multifactorial analysis was carried out to investigate the major clinical determinants of serum pNfH.

Safety and efficacy of nabiximols on spasticity symptoms in patients with motor neuron disease (CANALS): a multicentre, double-blind, randomised, placebo-controlled, phase 2 trial.

Background: Spasticity is a major determinant of disability and decline in quality of life in patients with motor neuron disease. Cannabinoids have been approved for symptomatic treatment of spasticity in multiple sclerosis. We investigated whether cannabinoids might also reduce spasticity in patients with motor neuron disease.

mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation.

Background: () gene has been recently identified as a causative gene of amyotrophic lateral sclerosis (ALS).

Methods: We sequenced the gene in a cohort of 154 Italian patients with ALS with unclear genetic aetiology. We subsequently assessed the pathogenic potential of novel identified variants using functional in vitro studies: expression, targeting and activity were evaluated in patient-derived fibroblasts and in cells transfected with mutated- plasmids.

Pharmacogenetic influence of eNOS gene variant on endothelial and glucose metabolism responses to L-arginine supplementation: Post hoc analysis of the L-arginine trial.

Objective: To evaluate whether variants of the eNOS gene are associated with endothelial and metabolic responses to L-arginine (L-arg) supplementation.

Material And Methods: We examined a single nucleotide polymorphism of the eNOS gene (rs753482-A>C) to investigate the effects of this variant on endothelial function (EF), colony-forming unit-endothelial cell (CFU-EC) number, asymmetric-dimethylarginine (ADMA) level, insulin sensitivity index (ISI), and insulin secretion (IS) in a post hoc analysis of the L-arg trial. The L-arg trial (6.

Corneal confocal microscopy reveals trigeminal small sensory fiber neuropathy in amyotrophic lateral sclerosis.

Although subclinical involvement of sensory neurons in amyotrophic lateral sclerosis (ALS) has been previously demonstrated, corneal small fiber sensory neuropathy has not been reported to-date. We examined a group of sporadic ALS patients with corneal confocal microscopy, a recently developed imaging technique allowing in vivo observation of corneal small sensory fibers. Corneal confocal microscopy (CCM) examination revealed a reduction of corneal small fiber sensory nerve number and branching in ALS patients.

Improving hand functional use in subjects with multiple sclerosis using a musical keyboard: a randomized controlled trial.

Background And Purpose: Playing an instrument implies neuroplasticity in different cerebral regions. This phenomenon has been described in subjects with stroke, suggesting that it could play a role in hand rehabilitation. The aim of this study is to analyse the effectiveness of playing a musical keyboard in improving hand function in subjects with multiple sclerosis.

Balance exercise in patients with chronic sensory ataxic neuropathy: a pilot study.

Although exercise therapy is considered part of the treatment of neuropathic patients, and somatosensory input is essential for motor learning, performance and neural plasticity, rehabilitation of patients with sensory ataxia has received little attention so far. The aim of this prospective pilot study was to explore the short- and medium-term efficacy of a 3-week intensive balance and treadmill exercise program in chronic ataxic neuropathy patients; 20 consecutive patients with leg overall disability sum score (ODSS-leg) ≥2, absent/mild motor signs, clinical and therapeutic stability ≥4 months were enrolled. Evaluations were done at baseline, at the end of treatment and at 3- and 6-month follow-up.

Deep repetitive transcranial magnetic stimulation with H-coil on lower limb motor function in chronic stroke: a pilot study.

Objectives: To assess the efficacy of high-frequency (20 Hz) brain stimulation on lower limb motor function in subjects with chronic (> 6 mo) subcortical stroke.

Design: Double-blind, placebo-controlled crossover study.

Setting: University hospital.

Different Frontal Involvement in ALS and PLS Revealed by Stroop Event-Related Potentials and Reaction Times.

Background: A growing body of evidence suggests a link between cognitive and pathological changes in amyotrophic lateral sclerosis (ALS) and in frontotemporal lobar degeneration (FTLD). Cognitive deficits have been investigated much less extensively in primary lateral sclerosis (PLS) than in ALS.

Objective: To investigate bioelectrical activity to Stroop test, assessing frontal function, in ALS, PLS, and control groups.

Mapping early changes of cortical motor output after subcortical stroke: a transcranial magnetic stimulation study.

After acute stroke several changes in cortical excitability occur involving affected (AH) and unaffected hemisphere (UH) but whether they contribute to motor recovery is still controversial. We performed transcranial magnetic stimulation mapping of several upper limb muscles over the two hemispheres in thirteen patients at 4-12 days from subcortical stroke and after 1 month. The occurrence of mirror movements (MMs) on the healthy side during contraction of paretic muscles was measured.

Impact of fatigue on the efficacy of rehabilitation in multiple sclerosis.

Fatigue is considered to be one of the most common and disabling symptoms among individuals with multiple sclerosis (MS). The aim of this study is to investigate if an intensive, short-term inpatient rehabilitation program is able to improve fatigue in MS, and if fatigue is able to negatively influence the clinical and functional outcome of rehabilitation in MS. One-hundred eighty six consecutively recruited MS patients underwent an intensive, short-term inpatient rehabilitation program.

Giant anterior arachnoid cyst associated with syringomyelia: implications for treatment and follow-up.

Study Design: A case report of a unique anterior intradural spinal arachnoid cyst (ISAC) associated with syringomyelia.

Objective: To discuss the surgical treatment and follow-up of anterior ISACs associated with syringomyelia.

Summary Of Background Data: Fenestration is commonly performed in arachnoid cysts with a large craniocaudal extension and in arachnoid cysts associated with syringomyelia.

Acute myelopathy selectively involving lumbar anterior horns following intranasal insufflation of ecstasy and heroin.

We report a patient who developed acute myelopathy after intranasal insufflation of amphetamines and heroin. The functional prognosis was very poor; after 4 months, she remained paraplegic. MRI imaging showed selective T2 hyperintensity and intense enhancement confined to the spinal anterior horns and lumbar nerve roots and plexus.

Impaired short-term motor learning in multiple sclerosis: evidence from virtual reality.

Objective: Virtual reality (VR) has been proposed as a potentially useful tool for motor assessment and rehabilitation. The objective of this study was to investigate the usefulness of VR in the assessment of short-term motor learning in multiple sclerosis (MS).

Methods: Twelve right-handed MS patients and 12 control individuals performed a motor-tracking task with their right upper limb, following the trajectory of an object projected on a screen along with online visual feedback on hand position from a sensor on the index finger.

Axonal injury and overall tissue loss are not related in primary progressive multiple sclerosis.

Background: There is an increasing body of evidence that magnetic resonance imaging-occult tissue damage is an important component of primary progressive multiple sclerosis (PPMS) pathology. Proton magnetic resonance spectroscopy (1H-MRS) can be used to measure in vivo whole-brain N-acetylaspartate (WBNAA) concentrations, the decrease of whose levels is considered a marker of neuronal-axonal injury.

Objectives: To study WBNAA 1H-MRS as a tool to provide information about irreversible brain damage in PPMS and to investigate the relationship between WBNAA and other magnetic resonance imaging measures of MS disease burden, including brain atrophy.

Persistence of congenital mirror movements after hemiplegic stroke.

We describe a case of hereditary congenital mirror movements (MMs) in a 76-year-old man, who after an ischemic stroke, had persistence of MMs in the paretic hand during voluntary movements of the contralateral arm. By using functional MR imaging to investigate the performance of motor and sensory tasks with the affected and the unaffected hands, we found evidence for increased ipsilateral primary motor cortex activity and reduced transcallosal inhibition. Both these mechanisms are likely to be involved in the genesis of MMs.

Postabsorptive and insulin-stimulated energy and protein metabolism in patients with myotonic dystrophy type 1.

Background: Exaggerated insulin resistance was described as the major metabolic abnormality in myotonic dystrophy type 1 (DM1). We reported recently that the severity of the impairment in insulin-stimulated glucose metabolism in these patients was overestimated.

Objective: The aim was to dissect out insulin action with respect to whole-body energy homeostasis and glucose, protein, and lipid metabolism in patients with DM1 to assess the relevance of insulin resistance to the heterogeneous clinical manifestations of this syndrome.

Contribution of abnormal insulin secretion and insulin resistance to the pathogenesis of type 2 diabetes in myotonic dystrophy.

Objective: Myotonic dystrophy (MyD), the most common adult form of muscular dystrophy, is often complicated by diabetes. MyD is dominantly inherited and is due to heterozygosity for a trinucleotide repeat expansion mutation in a protein kinase gene able to induce derangement of RNA metabolism responsible of an aberrant insulin receptor expression.

Research Design And Methods: To assess insulin sensitivity and secretion before the onset of diabetes, we studied 10 MyD patients, 10 offspring of type 2 diabetes (OFF), and 10 healthy subjects with no family history of diabetes (control subjects) with dual X-ray energy absorption, euglycemic-hyperinsulinemic clamp (40 mU/[m(2).