Gender Differences in Skin Biopsy Findings in Small Fiber Neuropathy: A Retrospective Chart Review.

Objectives: To determine whether there are gender differences in the clinical presentation or skin biopsy measures of nerve fiber density in patients with small fiber neuropathy (SFN).

Methods: Retrospective chart review of subjects with suspected SFN.

Results: Of 218 cases (137 women and 81 men) with suspected SFN, 96 (44%), including 63% of the men and 33% of the women (P < 0.

Changes in spatiotemporal gait parameters following intravenous immunoglobulin treatment for chronic inflammatory demyelinating polyneuropathy.

Introduction: Gait impairment is a common presenting symptom in patients with chronic inflammatory demyelinating polyneuropathy (CIDP). However, gait parameters have not previously been evaluated in detail as potential independent outcome measures.

Methods: We prospectively measured changes in spatiotemporal gait parameters of 20 patients with CIDP at baseline and following treatment with intravenous immunoglobulin (IVIG), using GAITRite® a computerized walkway system with embedded sensors.

Abnormal Nutritional Factors in Patients Evaluated at a Neuropathy Center.

Abnormal concentrations of nutritional factors were found in 24.1% of 187 patients with neuropathy who were newly seen at our academic neuropathy referral center over a 1-year period. All patients presented with sensory axonal or small fiber neuropathy.

Follow-up nerve conduction studies in CIDP after treatment with IGIV-C: Comparison of patients with and without subsequent relapse.

Introduction: Electrodiagnostic studies (EDX) are not performed routinely before treatment suspension in CIDP, and no data exist regarding their value in predicting clinical relapse.

Methods: Serial EDX (baseline and after IGIV-C therapy) were analyzed from subjects in the ICE clinical trial who responded to IGIV-C treatment and were subsequently re-randomized to placebo in an extension phase. Comparisons were made between subjects who relapsed and those who did not.

Peripheral neuropathies of rheumatologic disease and gluten-related disorders.

Peripheral nervous system disease is a common and often debilitating feature of many systemic rheumatologic disorders. Such involvement takes many forms, reflecting the variety of underlying pathophysiology, though most patients present with painful multifocal neuropathy (usually vasculitic) or a distal sensory more than motor peripheral neuropathy (sometimes vasculitic and nearly always axonal). The presence of peripheral nervous system involvement is often an early signal of the generalization of inflammatory disease in blood vessels or extravascular tissues, though peripheral neuropathy is not itself an independent predictor of mortality.

Small fiber abnormalities in skin biopsies of patients with benign fasciculations.

Objective: To determine whether patients with benign fasciculations have evidence for axonal loss in skin biopsies.

Methods: Epidermal sensory and sweat gland nerve fiber densities were quantified in skin biopsies of 11 patients with benign fasciculations and no other known cause for neuropathy.

Results: Nine of the 11 patients (82%) had significantly reduced epidermal or sweat gland nerve fiber densities at the calf or thigh, in comparison with control values.

Comparison of 2-limb versus 3-limb electrodiagnostic studies in the evaluation of chronic inflammatory demyelinating polyneuropathy.

Introduction: European Federation of Neurological Societies/Peripheral Nerve Society electrodiagnostic (EDx) criteria for the definite diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP) require the presence of demyelinating findings (DF) in at least 2 nerves. Data are lacking, however, regarding the optimal number of nerves to test.

Methods: We retrospectively reviewed EDx data from 53 patients with CIDP and compared the number of DF found on 2- and 3-limb testing.

Prolongation of the tibialis anterior CMAP duration in chronic inflammatory demyelinating polyneuropathy.

Objective: To assess the duration of the distal compound muscle action potential (dCMAP) recording from the tibialis anterior (TA) as a supportive electrodiagnostic feature in chronic inflammatory demyelinating polyneuropathy (CIDP).

Methods: We performed peroneal motor conduction studies with recording from the TA in 35 CIDP patients, 30 normal controls, and 21 disease controls. The normal cut-off for the TA dCMAP duration was determined to be 14 ms.

Demyelinating neuropathy in patients with hepatitis C virus infection.

Infection with hepatitis C virus (HCV) can be associated with demyelinating polyneuropathy that may be responsive to immunomodulatory therapy. In this case report series, we review four patients (all male, ages 47-60 years) with HCV and demyelinating polyneuropathy. Two of the four patients were diagnosed with HCV during the course of initial neuropathy evaluation.

Differential gene expression in chronic inflammatory demyelinating polyneuropathy (CIDP) skin biopsies.

Gene expression analysis previously identified molecular markers that are up-regulated in sural nerve biopsies from patients with chronic inflammatory demyelinating polyneuropathy (CIDP). To determine whether the same or additional genes are also up-regulated in skin, we applied gene microarray profiling and quantitative real-time PCR (qPCR) analysis to skin punch biopsies from patients with CIDP and controls. Five genes, allograft inflammatory factor 1 (AIF-1), lymphatic hyaluronan receptor (LYVE-1/XLKD1), FYN binding protein (FYB), P2RY1 (purinergic receptor P2Y, G-protein-coupled, 1), and MLLT3 (myeloid/lymphoid or mixed-lineage leukemia translocated to, 3), all associated with immune cells or inflammatory processes, were elevated in punch skin biopsies from patients with CIDP as compared to normal subjects or patients with Charcot-Marie-Tooth Type 1 (CMT1).

Small fiber neuropathy following vaccination for rabies, varicella or Lyme disease.

Neuropathy following vaccination has been reported; however, biopsy-confirmed small fiber neuropathy has not been described. We report five patients who developed paresthesias within one day to two months following vaccination for rabies, varicella zoster, or Lyme disease. On examination, there was mild sensory loss in distal extremities, preserved strength, normal or minimally abnormal electrodiagnostic findings, and decreased epidermal nerve fiber densities per skin biopsy.

Demyelinating findings in typical and atypical chronic inflammatory demyelinating polyneuropathy: sensitivity and specificity.

Objective: The objective of this study was to evaluate how the number of demyelinating findings (DF) on nerve conductions affects sensitivity and specificity of electrodiagnostic criteria for chronic inflammatory demyelinating polyneuropathy (CIDP).

Methods: Electrodiagnostic findings of 26 consecutive patients with CIDP were compared with amyotrophic lateral sclerosis (ALS) and diabetic polyneuropathy controls. Patients with CIDP were divided into typical and atypical CIDP, as defined elsewhere.

Rare myelin protein zero sequence variant in late onset CMT1B.

Myelin protein zero (MPZ) mutations cause demyelinating neuropathies that range from severe neonatal to milder adult forms. We report a 65-year-old woman with slowly progressive leg weakness starting at 47. Examination revealed distal weakness and atrophy in all extremities, impaired light touch in both feet and pin perception to proximal calves, absent leg reflexes, and unsteady gait.

Small-fiber neuropathy/neuronopathy associated with celiac disease: skin biopsy findings.

Background: Celiac disease (CD) is increasingly recognized in North America and is associated with a peripheral neuropathy.

Objective: To report the clinical characteristics and skin biopsy results in patients with CD and small-fiber neuropathy symptoms.

Design: Case series.

Multifocal acquired sensory and motor neuropathy: electrodiagnostic features.

The electrodiagnostic studies of 13 consecutive patients with multifocal sensory and motor neuropathy of unknown etiology were reviewed to determine whether they exhibit features of demyelination or axonal degeneration. The type and frequency of demyelinating features, fulfillment of electrodiagnostic criteria for chronic inflammatory demyelinating polyneuropathy (CIDP), and response to immunotherapy were noted. Of 13 patients, 11 had at least one electrodiagnostic feature of demyelination at presentation and 2 had none.

Peripheral Neuropathy and Celiac Disease.

Peripheral neuropathy (PN) is one of the most frequently reported neurologic manifestations associated with celiac disease (CD), a multigenetic, T-cell-mediated autoimmune disorder that results from a loss of tolerance to gluten. Sensory axonal and small fiber sensory polyneuropathies are the most frequently reported PN subtypes. Multifocal motor or sensorimotor neuropathies and a more fulminant neuropathy, associated with ataxia and other neurologic manifestations, also have been reported.

Central nervous system manifestations of rheumatologic diseases.

Purpose Of Review: To summarize the current literature on central nervous system manifestations of vasculitides and connective tissue diseases.

Recent Findings: There have been advances in understanding the mechanisms behind the initiation and perpetuation of inflammatory processes in vasculitic neuropathy. Clinically relevant data have been obtained on the predictive criteria for a positive biopsy result in giant cell arteritis, the imaging characteristics of primary angiitis of the central nervous system, and Behçet disease, and the clinical and radiologic features of neuro-Behçet disease.

Neuropathy and cognitive impairment following vaccination with the OspA protein of Borrelia burgdorferi.

Neurological syndromes that follow vaccination or infection are often attributed to autoimmune mechanisms. We report six patients who developed neuropathy or cognitive impairment, within several days to 2 months, following vaccination with the OspA antigen of Borrelia burgdorferi. Two of the patients developed cognitive impairment, one chronic inflammatory demyelinating polyneuropathy (CIDP), one multifocal motor neuropathy, one both cognitive impairment and CIDP, and one cognitive impairment and sensory axonal neuropathy.

Sensory CIDP presenting as cryptogenic sensory polyneuropathy.

The objective of this study was to report that patients with chronic inflammatory demyelinating polyneuropathy (CIDP) can present with a clinical picture of cryptogenic sensory neuropathy. Patients with distal sensory neuropathy and electrodiagnostic studies that are minimally abnormal or consistent with an axonal pathology are usually diagnosed as having cryptogenic sensory neuropathy if no cause for neuropathy can be found. Some of these patients, however, may have sensory CIDP.

Neurologic complications of celiac disease.

Neurologic complications of celiac disease (CD) include ataxia and peripheral neuropathy, which can be the presenting symptoms and signs. Early diagnosis and intervention could prevent development of further neurologic and systemic complications. Questions remain regarding the prevalence of the neurologic complications, the pathophysiological mechanisms, and the effectiveness of therapy or response to a gluten-free diet.

Comparison of electrodiagnostic abnormalities and criteria in a cohort of patients with chronic inflammatory demyelinating polyneuropathy.

Background: Current electrodiagnostic criteria for chronic inflammatory demyelinating polyneuropathy (CIDP) are research oriented favoring specificity over sensitivity. Application of such criteria in clinical practice may miss the diagnosis in potentially treatable patients.

Objectives: To analyze the electrophysiologic abnormalities in a cohort of patients with clinically defined CIDP, to compare these data with published electrodiagnostic criteria, and to identify a set of abnormalities that is shared by all patients with CIDP.