We assessed seven patients with hereditary neuropathy with liability to pressure palsies (HNPP) with 16 electrophysiological tests and cranial MRI for CNS abnormalities. Mean latencies differed between patients with HNPP and controls for the blink reflex, the jaw-opening reflex, and acoustic evoked potentials. MRI abnormalities were observed in four patients. Our study suggests subclinical but functionally relevant CNS myelin damage in HNPP.
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http://dx.doi.org/10.1212/01.wnl.0000249185.78359.06 | DOI Listing |
iScience
November 2024
Department of Molecular Physiology and Biophysics, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
Peripheral Myelin Protein 22 (PMP22) and MPZ are abundant myelin membrane proteins in Schwann cells. The MPZ adhesion protein holds myelin wraps together across the intraperiod line. PMP22 is a tetraspan protein belonging to the Claudin superfamily.
View Article and Find Full Text PDFNat Commun
December 2024
Department of Chemical and Biomolecular Engineering, Rice University, Houston, TX, USA.
Programmable and modular systems capable of orthogonal genomic and transcriptomic perturbations are crucial for biological research and treating human genetic diseases. Here, we present the minimal versatile genetic perturbation technology (mvGPT), a flexible toolkit designed for simultaneous and orthogonal gene editing, activation, and repression in human cells. The mvGPT combines an engineered compact prime editor (PE), a fusion activator MS2-p65-HSF1 (MPH), and a drive-and-process multiplex array that produces RNAs tailored to different types of genetic perturbation.
View Article and Find Full Text PDFNeurol Int
December 2024
Department of Neurology, University of Texas Medical Branch, Galveston, TX 77555, USA.
Background: Hereditary Sensory Motor Neuropathy (HSMN) 1A and Multiple Sclerosis (MS) are distinct demyelinating disorders affecting the peripheral and central nervous systems, respectively. We present a case of simultaneous occurrence of both conditions, exploring the clinical presentation, diagnostic workup, and potential interplay between these diseases. Case presentation and clinical approach: A 49-year-old male with a history of optic neuritis presented with progressive numbness, weakness, and sensory loss in all extremities over four years.
View Article and Find Full Text PDFJ Neuroophthalmol
December 2024
Exploration de la Vision et Neuro-Ophtalmologie (RF, VS), CHU de Lille, Lille, France; and University of Lille (QL, VS, MB), INSERM, CNRS, UMR-S 1172-Lab, Lille Neuroscience & Cognition, Lille, France.
Background: Most of the data on visual functions in Leber hereditary optic neuropathy (LHON) is based on patient questionnaires. Our study assessed the impact of LHON on visual function by testing facial recognition and execution of purposeful actions.
Methods: Twelve participants with LHON with central scotoma ranging from 5° to 20° and 12 unaffected age-matched controls were involved in our study.
Cureus
December 2024
Clinical Neurophysiology, University Hospital of Wales, Cardiff, GBR.
Charcot-Marie-Tooth disease (CMT) is the most common hereditary peripheral neuropathy. It presents a wide range of genetic and phenotypic heterogeneity. CMT disease type 1A (CMT1A), caused by PMP22 gene duplication, represents the most common subtype of CMT in Western countries.
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