Report of a novel ATP7A mutation causing distal motor neuropathy.

We describe a novel ATP7A gene mutation associated with distal motor neuropathy, mild connective tissue abnormalities and autonomic disturbances. Next-generation sequencing analysis of a lower-motor neuron diseases gene panel was performed in two sibs presenting with distal motor neuropathy plus an autonomic dysfunction, which main manifestations were retrograde ejaculation, diarrhea and hyperhydrosis. Probands underwent dysmorphological, neurological, electrophysiological as well as biochemical evaluations and somatic and autonomic innervation studies on skin biopsies.

SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers.

Brody disease is an inherited myopathy associated with a defective function of sarcoplasmic/endoplasmic reticulum Ca(2+)-ATPase 1 (SERCA1) protein. Mutations in the ATP2A1 gene have been reported only in some patients. Therefore it has been proposed to distinguish patients with ATP2A1 mutations, Brody disease (BD), from patients without mutations, Brody syndrome (BS).

Conversion ratio between Dysport and Botox in clinical practice: an overview of available evidence.

The optimal conversion ratio between Dysport and Botox--the two botulinum neurotoxin type A products (BoNT-As) supported by the larger bulk of evidence-has been extensively debated, because of its broad medical and economic implications. The article discusses the available evidence on the conversion ratio between Dysport and Botox in adults affected by spasticity, cervical dystonia, blepharospasm and hemifacial spasm, with a focus on clinical trials that specifically addressed this issue. In addition, some suggestions on the conversion ratio between Dysport and Xeomin can be extrapolated, since Xeomin has the same efficacy and safety profile as Botox and is exchangeable with Botox with a 1:1 conversion ratio.

Botulinum toxin treatment for slipping rib syndrome: a case report.

Background: Slipping rib syndrome (SRS) is a musculoskeletal cause of severe and recurrent thoracic or abdominal pain. The etiology of SRS is unknown, it seems to arise from costal hypermobility with a tendency of one of the ribs (usually from 8th to 10th but also 11th and 12th have been described) to slip under the superior adjacent rib. Its prevalence is underestimated because SRS is mainly a clinical diagnosis, frequently missed.

Effect of short-term electrical stimulation before and after botulinum toxin injection.

Objective: To compare the effect of electrical stimulation applied before and after botulinum toxin injection.

Subjects: Eight healthy subjects.

Methods: Both extensor digitorum brevis muscles were injected with low fixed doses of botulinum toxin.

Multiphasic acute disseminated encephalomyelitis or pediatric multiple sclerosis: report of an atypical case.

An international panel has recently proposed consensus definitions for pediatric multiple sclerosis and related disorders. These are important diagnostic improvements, but exceptions have been acknowledged. Further insight about clinical overlap between pediatric multiple sclerosis and all forms of relapsing acute disseminated encephalomyelitis may be gained from long-term follow-up.

Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence.

Paroxysmal non-kinesigenic dyskinesia (PNKD) is an autosomal-dominant movement disorder characterized by attacks of dystonia, chorea and athetosis. Myofibrillogenesis regulator-1 (MR-1), the gene responsible for PNKD, is transcribed into three alternatively spliced forms: long (MR-1L), medium (MR-1M) and small (MR-1S). Two mutations, A7V and A9V, were previously discovered in the N-terminal region common to MR-1L and MR-1S.

Brain white matter damage in SCA1 and SCA2. An in vivo study using voxel-based morphometry, histogram analysis of mean diffusivity and tract-based spatial statistics.

Background And Purpose: Neurodegeneration in spinocerebellar ataxia type 1(SCA1) and 2(SCA2) is associated with white matter(WM) damage. Voxel-Based Morphometry(VBM), histogram analysis of mean diffusivity(MD) and Tract-Based Spatial Statistics(TBSS) enable an in vivo quantitative analysis of WM volume and structure. We assessed with these 3 techniques the whole brain WM damage in SCA1 and SCA2.

Acute disseminated encephalomyelitis in children: focus on relapsing patients.

This study investigated the possible prognostic factors for relapse, and the diagnostic criteria for multiple sclerosis and related disorders, in pediatric acute disseminated encephalomyelitis. The study population comprised 24 Italian children with a mean age at onset of 6.9 years, and a mean follow-up time of 52.

Brain structural damage in spinocerebellar ataxia type 1 : a VBM study.

Background And Objective: Neuropathological description of the brain in spinocerebellar ataxia type 1(SCA1) is limited to a few cases. Voxel-based morphometry (VBM) enables an unbiased in vivo whole-brain quantitative analysis of regional differences in gray matter (GM) and white matter (WM) volume. We assessed with VBM the structural damage in patients with genetically confirmed SCA1.

Reliability of a novel neurostimulation method to study involuntary muscle phenomena.

Experimental methods involving painful electrical stimulation of a peripheral nerve showed the existence of a minimum stimulation frequency capable of inducing cramp, termed "threshold frequency" (TF). Our aim was to test an alternative method to induce fasciculations and cramps electrically. Two daily sessions of electrical stimulation of the abductor hallucis muscle were performed in 19 volunteers on 3 days: stimulation trains of 150 monophasic square pulses (duration 152 micros) of increasing frequency (current intensity 30% higher than maximal; frequency of the first trial, 4 pps; recovery between trials, 1 min) were delivered to the main muscle motor point until a cramp developed.

Acetyl-L-carnitine for the treatment of chemotherapy-induced peripheral neuropathy: a short review.

Peripheral neurotoxicity is a major complication associated with the use of chemotherapeutic agents such as platinum compounds, taxanes and vinca alkaloids. The neurotoxicity of chemotherapy depends not only on the anticancer agent(s) used, the cumulative dose and the delivery method, but also on the capacity of the nerve to cope with the nerve-damaging process. The sensory and motor symptoms and signs of neurotoxicity are disabling, and have a significant impact on the quality of life of cancer patients.

Recovery of swallowing disorders in patients undergoing supracricoid laryngectomy with botulinum toxin therapy.

In recent decades, functional laryngeal surgery has become a widespread method of treating glottic and supraglottic neoplasms, since it ensures an oncological outcome comparable to that of radical surgery and functional results that are conducive to a good quality of life. The most common postoperative complaints for this type of surgery are swallowing disorders, which can thwart good surgical results, especially when severe. Five supracricoid laryngectomees with swallowing disorders unresolved by speech therapy were treated by percutaneous injection of botulinum toxin under electromyographic control.

Acetyl-L-carnitine (levacecarnine) in the treatment of diabetic neuropathy. A long-term, randomised, double-blind, placebo-controlled study.

Objective: To assess the efficacy and tolerability of acetyl-L-carnitine (levacecarnine; LAC) versus placebo in the treatment of diabetic neuropathy, mainly by evaluating the effects of treatment on electrophysiological parameters and pain symptoms.

Design: This was a multicentre (n = 20), randomised, double-blind, placebo-controlled, parallel-group study.

Patients: 333 patients meeting clinical and/or neurophysiological criteria for diabetic neuropathy were enrolled.

Botulinum neurotoxin serotypes A and C do not affect motor units survival in humans: an electrophysiological study by motor units counting.

Objectives: Botulinum neurotoxin serotype A (BoNT/A) is a valid therapy for dystonia but repeated BoNT/A injections may induce a clinical immuno-resistance that could be overcome by using other BoNT serotypes. In vitro experiments and our preliminary investigations in vivo, indicate that botulinum neurotoxin serotype C (BoNT/C) could be an effective alternative to BoNT/A. Moreover, in cultured neurons 'in vitro' BoNT/C has been reported to be more toxic than BoNT/A.

Hemihypoglossal nerve transfer in brachial plexus repair: technique and results.

Objective: In multiple avulsions of the brachial plexus, the search for extraplexal donor nerves in the hope of achieving motor neurotization is a major goal. We explored the possibility of using the hypoglossal nerve as a transfer point to reanimate muscles in the upper limb.

Methods: The hypoglossal nerve was used as a donor nerve for neurotization in seven patients with avulsive injuries of the brachial plexus.