A double-blind placebo-controlled pilot study of immunoglobulin for small fiber neuropathy associated with TS-HDS and FGFR-3 autoantibodies.

Introduction/aims: Small fiber neuropathies (SFN) have been associated with two autoantibodies, trisulfated heparin disaccharide (TS-HDS) and fibroblast growth factor receptor 3 (FGFR-3), and intravenous immune globulin (IVIG) has been suggested as a potential therapy. The study objective is to determine the efficacy of IVIG on nerve density, pain and neurologic examinations in patients with SFN associated with TS-HDS and FGFR-3 autoantibodies.

Methods: This was a double-blind placebo-controlled pilot study.

Cutaneous alpha-synuclein deposition in postural tachycardia patients.

Objective: To report a case series of patients with neuropathic POTS and cutaneous phosphorylated alpha-synuclein (P-SYN) deposition on skin biopsy and compare these to neuropathic POTS patients without P-SYN deposition.

Methods: The medical history, physical examination findings, autonomic function testing, and skin biopsy neuropathology of patients under the age of 50 with a postural tachycardia and a diagnosis of POTS were retrospectively reviewed. Included patients completed the composite autonomic severity score (COMPASS 31), the Wood Mental Fatigue Inventory, the Epworth Sleepiness scale, the REM Behavior Disorder Questionnaire, the Patient-Reported Outcomes Measurement Information System (PROMIS-10), and the Gastroparesis Cardinal Symptom Index.

Safety of an Abbreviated Transition Period When Switching From Intravenous Immunoglobulin to Eculizumab in Patients with Treatment-Refractory Myasthenia Gravis: A Case Series.

BACKGROUND Eculizumab is a terminal complement inhibitor used to treat myasthenia gravis in patients refractory (because of insufficient efficacy or intolerance) to other therapies, including intravenous immunoglobulin. However, information is lacking on how to transition patients from intravenous immunoglobulin to eculizumab, while avoiding a crossover effect of intravenous immunoglobulin and minimizing the risk of a transient worsening of symptoms if treatment that may be at least partially effective is interrupted. The aim of this study was to determine whether eculizumab can be safely initiated before complete intravenous immunoglobulin washout, using a standardized protocol.

Review process for IVIg treatment: Lessons learned from INSIGHTS neuropathy study.

Background: This project is an effort to understand how orders for IV immunoglobulin (IVIg) are documented and prescribed by physicians, and subsequently, how they are reviewed by insurance companies for the treatment of immune neuropathies.

Methods: A panel of neuromuscular specialists reviewed case records from 248 IVIg-naive patients whose in-home IVIg infusion treatment was submitted to insurance for authorization. After reviewing a case record, 1 panelist was asked to make a diagnosis and to answer several questions about the treatment.

Small Fiber Neuropathy: Disease Classification Beyond Pain and Burning.

Small fiber neuropathy (SFN) has a poorly understood pathology, but patients would benefit from determination of clinical phenotypes that allows for better diagnosis and treatment planning. I propose that patients should be classified dependent on whether there is sodium channel dysfunction, classic neurologic symptoms only, widespread neuropathic pain, or autonomic symptoms. Patients with SFN can then be considered in light of their clinical phenotype, allowing for focus on subsets of patients who might have diagnosable conditions or be more prone to responding to a particular type of therapy that may not be efficacious in the broader patient population with SFN.

Interactive effects of leg autotomy and incline on locomotor performance and kinematics of the cellar spider, .

Leg autotomy can be a very effective strategy for escaping a predation attempt in many animals. In spiders, autotomy can be very common (5-40% of individuals can be missing legs) and has been shown to reduce locomotor speeds, which, in turn, can reduce the ability to find food, mates, and suitable habitat. Previous work on spiders has focused mostly on the influence of limb loss on horizontal movements.

The Presence of Alpha-Synuclein in Skin from Melanoma and Patients with Parkinson's Disease.

Background: The misfolding and prion-like propagation of the protein α-synuclein (α-syn) is the leading molecular signature in Parkinson's disease (PD). There is a significant coincidence of PD and melanoma that may suggest a shared pathophysiology. This study compared the presence of α-syn in neural crest-derived tissues, such as nevi, melanoma, skin tags, and skin biopsies from patients with PD and healthy controls.

Renal and hematologic side effects of long-term intravenous immunoglobulin therapy in patients with neurologic disorders.

Introduction: For patients receiving intravenous immunoglobulin (IVIg), renal and hemolytic side effects are well recognized. However, there are very few data on the effects of chronic IVIg therapy.

Methods: We retrospectively analyzed laboratory data on 166 patients who received IVIg for 12 months with a dose range of 0.

Phase I clinical trial of safety of L-serine for ALS patients.

We performed a randomized, double-blind phase I clinical trial for six months on the effects of oral L-serine in patients with ALS. The protocol called for enrollment of patients with a diagnosis of probable or definite ALS, age 18-85 years, disease duration of less than three years and forced vital capacity (FVC) ≥ 60%. Patients were randomly assigned to four different oral twice-daily dose regimens (0.

Routine use of punch biopsy to diagnose small fiber neuropathy in fibromyalgia patients.

Fibromyalgia is a clinical syndrome that currently does not have any specific pathological finding to aid in diagnosis. Therefore, fibromyalgia is most likely a heterogeneous group of diseases with similar symptoms. Identifying and understanding the pathological basis of fibromyalgia will allow physicians to better categorize patients, increasing prospective treatment options, and improving potential therapeutic endeavors.

Laboratory evaluation of peripheral neuropathy.

The question of how to evaluate peripheral neuropathies is complicated by there being hundreds of potential causes, both acquired and inherited. This article focuses on a targeted and thoughtful approach to the laboratory evaluation of patients with peripheral neuropathy, designed to allow the identification of treatable neuropathies without undue expense and risk to patients. After determining which clinical patterns are present, the patterns are used to define a discrete manageable subset of diseases underlying these neuropathies.

Usefulness of skin biopsies in the evaluation and management of patients with suspected small fiber neuropathy.

Objective: To assess the usefulness of skin biopsy in the assessment of patients with suspeted small fiber neuropathy (SFN).

Methods: Retrospective chart review of patients with sensory symptoms or findings restricted to small nerve fibers and normal nerve conduction studies (NCS) seen in a subspecialty neuromuscular private practice.

Results: Assessments were made on 145 patients.

A Pilot Trial of Pioglitazone HCl and Tretinoin in ALS: Cerebrospinal Fluid Biomarkers to Monitor Drug Efficacy and Predict Rate of Disease Progression.

Objectives. To determine if therapy with pioglitazone HCl and tretinoin could slow disease progression in patients with ALS. Levels of tau and pNFH in the cerebrospinal fluid were measured to see if they could serve as prognostic indicators.

A pilot trial of memantine and riluzole in ALS: correlation to CSF biomarkers.

The objective of this trial was to determine the safety and tolerability of memantine in patients with sporadic ALS and to examine changes in CSF biomarkers during drug therapy. Twenty patients on stable doses of riluzole were enrolled. Patients received memantine, 10 mg b.

Rituximab in the treatment of dermatomyositis: an open-label pilot study.

Objective: To test the hypothesis that B cells play a role in the pathophysiology of dermatomyositis (DM) by examining the effect of B cell depletion in patients with symptomatic DM. Patients were treated with rituximab, a CD20+ B cell-depleting monoclonal antibody.

Methods: This was an open-label uncontrolled pilot trial in 7 adult patients with DM, 6 of whom had longstanding illness that was responding inadequately to a number of currently available immunosuppressive agents.