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Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot-Marie-Tooth Neuropathy CMTX3.
Mol Genet Genomic Med
September 2024
Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Medical Research Center Oulu and Biocenter Oulu, University of Oulu, Oulu, Finland.
Article Synopsis
- - The study focuses on X-linked recessive type 3 Charcot-Marie-Tooth (CMTX3), a rare condition with a common genetic insertion found in affected patients.
- - Optical genome mapping (OGM) in a male patient with symptoms similar to Dejerine-Sottas disease revealed a new genetic insertion linked to atypical CMTX3, which was inherited from his mother.
- - The research suggests that further analysis of genomic rearrangements in a specific chromosome region should be included in diagnostic tests for childhood-onset CMT, as these genetic changes may disrupt important genes and contribute to related neurological symptoms.
Hyperbaric oxygen therapy for thalamic pain syndrome: case report.
Front Neurol
March 2024
David Grant USAF Medical Center, Travis Air Force Base, Fairfield, CA, United States.
Article Synopsis
- Thalamic pain syndrome is a form of central post-stroke pain that can affect up to 10% of stroke survivors, usually emerging with a delay and often leading to chronic, long-lasting discomfort.
- This condition is challenging to treat, with limited effectiveness from common therapies, and it significantly impacts daily life, potentially leading to issues like depression and suicidal thoughts.
- A case study of a 55-year-old man with thalamic pain syndrome showed marked improvement in his symptoms and quality of life after undergoing hyperbaric oxygen therapy, suggesting it could be a viable treatment option for this syndrome.
Déjerine-Roussy syndrome presenting with atypical involuntary movements.
Int J Neurosci
January 2024
Neurology, Indraprastha Apollo Hospitals, New Delhi, India.
Background: The Déjerine-Roussy syndrome is caused by a stroke in the posterior lateral nuclei of the thalamus. It has a 17 to 18% prevalence after a stroke involving the inferior lateral thalamus.
Methods: We reported a case of a 65-year-old, diabetic and hypertensive male who presented with sudden onset of superficial hemianesthesia, allodynia, severe and paroxysmal pain on the right side of the body with choreoathetoid movements in the upperN limb, along with slured speech, and unsteadiness while walking.
EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.
J Peripher Nerv Syst
September 2023
Department of Molecular Genetics Pharmacogenomics and Hormonology, APHP, CHU de Bicêtre, Le Kremlin-Bicêtre, France.
Article Synopsis
- Mutations in the EGR2 gene are linked to several hereditary neuropathies, including types of Charcot-Marie-Tooth disease and congenital neuropathy.
- A study identified 14 patients with EGR2 mutations, revealing a mean age of 44 years and a disease duration of 28 years, with common symptoms like pes cavus and distal limb weakness in all cases.
- The results show that EGR2-related neuropathies are rare progressive conditions that can present in childhood or adulthood, often misdiagnosed as inflammatory neuropathies, and include a range of previously unreported mutations.
A case report of two Moroccan patients with hereditary neurological disorders and molecular modeling study on the S72L de novo PMP22 variant.
Rev Neurol (Paris)
October 2023
Human Molecular Genetics Laboratory, Institut Pasteur du Maroc, Casablanca, Morocco. Electronic address:
Hereditary neurological disorders represent a wild group of hereditary illnesses affecting mainly the nervous system, the majority of which have a Mendelian inheritance pattern. Here we present the case of two Moroccan patients each affected by a different hereditary neurological disorder. In the first patient WES analysis revealed the presence of the p.
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