MASA syndrome is a recessive X-linked disorder characterized by mental retardation, adducted thumbs, shuffling gait, aphasia and, in some cases, hydrocephalus. Since it has been shown that X-linked hydrocephalus can be caused by mutations in L1CAM, a neuronal cell adhesion molecule, we performed an L1CAM mutation analysis in eight unrelated patients with MASA syndrome. Three different L1CAM mutations were identified: a deletion removing part of the open reading frame and two point mutations resulting in amino acid substitutions. L1CAM, therefore, harbours mutations leading to either MASA syndrome or HSAS, and might be frequently implicated in X-linked mental retardation with or without hydrocephalus.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1038/ng0794-408 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Improving Anxiety Related to Chronic Pain Through a Sleep Circadian Intervention Program: A Pilot Study.
Behav Sci (Basel)
January 2025
Sleep Unit, Pneumology Department, Hospital Universitario de Guadalajara, 19002 Guadalajara, Spain.
The limitations of pharmacological treatments for chronic pain have become increasingly evident: dependency, side effects, resistance, and diminishing efficacy. The urgent need for innovative solutions has become a compelling focus for improving patient outcomes. Innovative non-pharmacological approaches, such as sleep management, as a strategy to reduce opioid consumption and pain control are needed.
View Article and Find Full Text PDFUnraveling the Molecular Mechanisms of OSA-Related Cardiovascular Event Recurrence: A Post Hoc Analysis From the ISAACC Study.
Arch Bronconeumol
October 2024
Centro de Investigación Biomédica en Red de Enfermedades Respiratorias (CIBERES), Madrid, Spain; Group of Precision Medicine in Chronic Diseases, Hospital Nacional de Parapléjicos, IDISCAM, Department of Nursing, Physiotherapy and Occupational Therapy, Faculty of Physiotherapy and Nursing, University of Castilla-La Mancha, Toledo, Spain. Electronic address:
Article Synopsis
- Obstructive sleep apnea (OSA) significantly impacts cardiovascular event recurrence in patients with acute coronary syndrome (ACS), particularly in those without prior cardiovascular disease.
- The study identified two groups based on the severity of OSA and utilized proteomics to analyze plasma proteins, revealing 24 differentially expressed proteins associated with OSA severity.
- Bioinformatic analysis suggested that these proteins are involved in key molecular pathways related to immune function, cell signaling, and inflammation, linking OSA to adverse cardiovascular outcomes.
A Case Report in the Management of Dysphagia in Osmotic Demyelination Syndrome Using Mann Assessment of Swallowing Ability (MASA).
Indian J Otolaryngol Head Neck Surg
June 2024
Department of Biomedical Engineering, North Eastern Hill University, Shillong, Meghalaya India.
Article Synopsis
- - Osmotic Demyelination Syndrome (ODS), commonly seen in alcoholics and malnourished individuals, results in various clinical symptoms affecting speech, language, swallowing, and movement due to demyelination in the brain.
- - A 36-year-old male with a history of alcohol use and hypertension was diagnosed with ODS after MRI showed specific brain lesions, leading to issues like spastic dysarthria and moderate dysphagia.
- - After receiving speech and swallowing therapy, the patient showed significant improvement in swallowing ability within 5 days, as measured by the Mann Assessment of Swallowing Ability (MASA), highlighting its effectiveness in assessing dysphagia prognosis in ODS cases.
Cyclogram-based evaluation of inter-limb gait symmetry in Prader-Willi Syndrome.
Gait Posture
July 2024
Department of Electronics, Information and Bioengineering, Politecnico di Milano, Piazza Leonardo da Vinci 32, Milano 20133, Italy; Orthopaedic Rehabilitation Unit and Research Laboratory in Biomechanics, Rehabilitation and Ergonomics, San Giuseppe Hospital, IRCCS Istituto Auxologico Italiano, Strada Luigi Cadorna 90, Piancavallo 28824, Italy. Electronic address:
Background: Prader-Willi syndrome (PWS) is characterized by a complex clinical condition, whose typical features lead to impaired motor and functional skills. To date, limited data is available as regards symmetry of gait in PWS.
Research Question: The aim of this study was to characterize lower-limb asymmetry during gait in a group of Prader-Willi Syndrome (PWS) individuals by using the synchronized cyclograms and to compare it with those of two different control groups, a normal-weight group and an obese group.
Single Nucleotide Polymorphism in Cell Adhesion Molecule L1 Affects Learning and Memory in a Mouse Model of Traumatic Brain Injury.
Int J Mol Sci
March 2024
Neuroscience and Cell Biology, Rutgers Robert Wood Johnson Medical School, Piscataway, NJ 08854, USA.
The L1 cell adhesion molecule (L1) has demonstrated a range of beneficial effects in animal models of spinal cord injury, neurodegenerative disease, and ischemia; however, the role of L1 in TBI has not been fully examined. Mutations in the gene affecting the extracellular domain of this type 1 transmembrane glycoprotein have been identified in patients with L1 syndrome. These patients suffer from hydrocephalus, MASA (mental retardation, adducted thumbs, shuffling gait, aphasia) symptoms, and corpus callosum agenesis.
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!