Analysis of c.801-2A>G mutation in the DNAJC6 gene in Parkinson's disease in southern Spain.

Parkinsonism Relat Disord

Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain. Electronic address:

Published: February 2014

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.parkreldis.2013.10.018DOI Listing

Publication Analysis

Top Keywords

analysis c801-2a>g
4
c801-2a>g mutation
4
mutation dnajc6
4
dnajc6 gene
4
gene parkinson's
4
parkinson's disease
4
disease southern
4
southern spain
4
analysis
1
mutation
1

Similar Publications

Comprehensive genomic and transcriptomic analyses of the anaerobic degradation of microcystin in Alcaligenes faecalis D04.

Ecotoxicol Environ Saf

January 2025

Hunan Province Key Laboratory of Typical Environmental Pollution and Health Hazards, School of Public Health, Hengyang Medical school, University of South China, Hengyang, Hunan 421001, China. Electronic address:

Microcystin LR (MC-LR) pollution is a serious threat to aquatic ecosystems and public health in China and is an environmental problem that urgently needs to be solved. However, few studies have investigated the anaerobic degradation pathway and related molecular biological mechanisms of MC-LR. In this study, a bacterium capable of degrading MC-LR with a degradation efficiency of 0.

View Article and Find Full Text PDF

The cortical tracking of the acoustic envelope is a phenomenon where the brain's electrical activity, as recorded by electroencephalography (EEG) signals, fluctuates in accordance with changes in stimulus intensity (the acoustic envelope of the stimulus). Understanding speech in a noisy background is a key challenge for people with hearing impairments. Speech stimuli are therefore more ecologically valid than clicks, tone pips, or speech tokens (e.

View Article and Find Full Text PDF

Cortical spreading depolarization (CSD), the neurophysiological event believed to underlie aura, may trigger migraine headaches through inflammatory signaling that originates in neurons and spreads to the meninges via astrocytes. Increasing evidence from studies on rodents and migraine patients supports this hypothesis. The transition from pro-inflammatory to anti-inflammatory mechanisms is crucial for resolving inflammation.

View Article and Find Full Text PDF

Conformational Antibodies to Proteolipid Protein-1 and Its Peripheral Isoform DM20 in Patients With CNS Autoimmune Demyelinating Disorders.

Neurol Neuroimmunol Neuroinflamm

March 2025

Neuroimmunology Laboratory and Neuroimmunology Research Section, IRCCS Mondino Foundation, Pavia, Italy.

Background And Objectives: Antibodies to proteolipid protein-1 (PLP1-IgG), a major central myelin protein also expressed in the peripheral nervous system (PNS) as the isoform DM20, have been previously identified mostly in patients with multiple sclerosis (MS), with unclear clinical implications. However, most studies relied on nonconformational immunoassays and included few patients with non-MS CNS autoimmune demyelinating disorders (ADDs). We aimed to investigate conformational PLP1-IgG in the whole ADD spectrum.

View Article and Find Full Text PDF

Background And Objectives: While it is well characterized in adults, little is known about the clinical features of neurofascin 155-IgG4 autoimmune nodopathy (NF155-IgG4 AN) in the pediatric population. In this study, we aimed to describe the clinical features and treatment outcomes in children diagnosed with neurofascin 155-IgG4 autoimmune nodopathy (NF155-IgG4 AN).

Methods: Pediatric and adult patients with NF155-IgG4 AN were identified retrospectively through the Mayo Clinic Neuroimmunology Laboratory database.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!