Adult-onset Niemann-Pick disease type C masquerading as spinocerebellar ataxia.

Background: Adult-onset Nieman-Pick disease type C (NPC) is a rare progressive ataxia caused by lysosomal accumulation of unesterified cholesterol resulting in severe disability and death. The diagnosis of NPC can be challenging as clinical features overlap with other more common hereditary ataxias. This study pursued the molecular genetic basis of adult-onset cerebellar ataxia manifesting in two siblings.

Commonly Used Drugs for Medical Illness and the Nervous System.

Purpose Of Review: This article provides an overview of the neurologic side effects of commonly prescribed medications, some of which can result in significant impairment if not addressed. This article aims to help clinicians recognize neurologic adverse drug reactions of a range of medication classes.

Recent Findings: Adverse drug reactions are a source of significant morbidity and rising health care costs.

Corneal confocal microscopy: Neurologic disease biomarker in Friedreich ataxia.

Objective: Friedreich ataxia (FRDA), an autosomal recessive neurodegenerative disease caused by mutations in the gene encoding for the mitochondrial protein frataxin, is characterized by ataxia and gait instability, immobility, and eventual death. We evaluated corneal confocal microscopy (CCM) quantification of corneal nerve morphology as a novel, noninvasive, in vivo quantitative imaging biomarker for the severity of neurological manifestations in FRDA.

Methods: Corneal nerve fiber density, branch density, and fiber length were quantified in individuals with FRDA (n = 23) and healthy age-matched controls (n = 14).

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.

Correlation of Changes in Gait Parameters, With Phenotype, Outcome Measures, and Electrodiagnostic Abnormalities in a Patient With Anti-MAG Neuropathy After Exacerbation and Improvement.

Gait impairment is a common presentation in patients with IgM anti-myelin-associated glycoprotein (anti-MAG) antibody demyelinating neuropathy. However, current methods used to assess gait are limited. We report spatiotemporal gait parameters captured by GAITRite, a computerized walkway with embedded pressure sensors.

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.