The contribution of genetic heterogeneity to the pathogenesis of multifocal motor neuropathy (MMN) has not been elucidated. We investigated frequencies of single nucleotide polymorphisms (SNPs) in the candidate genes protein tyrosine phosphatase, non-receptor type 22 (PTPN22), B-cell scaffold protein with ankyrin repeats (BANK1), B lymphocyte kinase (Blk), and Fc gamma receptor class IIB (FCGR2B), which have been found to be associated with other autoimmune diseases, CD1A and CD1E, important for antigen presentation of glycolipids, and transient axonal glycoprotein 1 (TAG-1), which is associated with responsiveness to intravenous immunoglobulin in patients with chronic inflammatory demyelinating polyneuropathy. SNP frequencies were determined by means of TaqMan SNP genotyping assay and direct sequencing of candidate genes in 92 Dutch patients with MMN and 1152 healthy controls. SNP frequencies did not differ between patients and controls (all p-values >0.15) and disease characteristics were not associated with SNP genotypes. Our results suggest that allelic variation in these genes does not play a major role in determining MMN susceptibility.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/j.1529-8027.2011.00354.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Pediatric Acute Disseminated Encephalomyelitis Triggered by Concurrent Administration of Seasonal and H1N1 Influenza Vaccines: A Case Report and Review.
NeuroSci
December 2024
Department of Pediatrics, Dokkyo Medical University, Tochigi 321-0293, Japan.
Background: Acute disseminated encephalomyelitis (ADEM) is a rare, immune-mediated inflammatory disorder of the central nervous system (CNS), typically characterized by the acute onset of multifocal demyelination. The pathogenesis of ADEM remains unclear, but it is believed to be triggered by an autoimmune response, often following viral infections or vaccinations.
Case Report: This case report describes a 3-year-old child who developed ADEM after receiving two concurrent influenza vaccines: one for seasonal influenza and one for the 2009 H1N1 pandemic.
The effects of bilateral M1 anodal tDCS on corticomotor excitability and acquisition the of a bimanual videogame skill.
Neuroscience
January 2025
School of Health and Human Sciences, Indiana University Indianapolis Indianapolis IN USA.
Most activities of daily life involve some degree of coordinated, bimanual activity from the upper limbs. However, compared to single-handed movements, bimanual movements are processed, learned, and controlled from both hemispheres of the brain. Transcranial direct current stimulation (tDCS) is a non-invasive brain stimulation technique that enhances motor learning by modulating the activity of movement-associated brain regions.
View Article and Find Full Text PDFDiagnostic Accuracy of Median Nerve Cross-Sectional Area in Suspected Amyotrophic Lateral Sclerosis.
Muscle Nerve
January 2025
Department of Neurology, Brain Center Utrecht, University Medical Center Utrecht, Utrecht, The Netherlands.
Introduction/aims: Reduced nerve sizes obtained by nerve ultrasound (NUS) have been proposed as a potential diagnostic marker for amyotrophic lateral sclerosis (ALS). However, prospective studies evaluating patients with suspected ALS are currently lacking. We, therefore, evaluated the diagnostic accuracy of a standardized NUS protocol in a large sample of suspected ALS patients.
View Article and Find Full Text PDFPrimary care management of mild cognitive impairment in a stroke survivor: A case report on facilitating return to work.
Malays Fam Physician
December 2024
MD, MMed (Family Medicine), MPhil, Department of Family Medicine, Medical Faculty, Hospital Canselor Tuanku Muhriz (HCTM), National University of Malaysia (UKM), Kuala Lumpur, Malaysia.
This case report delves into facilitating return to work (RTW) in a working-age stroke survivor. The patient was a 42-year-old Malay man who experienced multifocal lacunar infarctions in April 2022. He demonstrated substantial motor function recovery but presented with subtle cognitive deficits impacting various domains.
View Article and Find Full Text PDFChallenging management of multifocal upper extremity fractures in a polytrauma setting: A case report.
Int J Surg Case Rep
December 2024
Department of Orthopedics and Traumatology, Faculty of Medicine, Universitas Airlangga, East Java, Surabaya, Indonesia; Department Orthopedics and Traumatology, Dr. Soetomo General Academic Hospital, East Java, Surabaya, Indonesia. Electronic address:
Introduction And Importance: Multifocal fractures in a single upper extremity represent a significant clinical challenge, often resulting from high-energy impacts such as motor vehicle accidents or severe falls. These injuries require complex, multifaceted approaches in management, spanning initial acute care to long-term rehabilitation. This paper examines the complexities of diagnosing, treating, and rehabilitating multifocal upper extremity fractures, highlighting the importance of timely intervention and a multidisciplinary approach to maximize functional recovery, minimize long-term disability and the prognosis.
View Article and Find Full Text PDFWant 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!