Publications by authors named "O Flabeau"
Paraneoplastic Neurologic Syndromes Associated With Merkel Cell Carcinoma.
Neurol Neuroimmunol Neuroinflamm
November 2024
Article Synopsis
- The study focuses on understanding the clinical and immunologic characteristics of patients with paraneoplastic neurologic syndromes (PNSs) linked to Merkel cell carcinoma (MCC).
- A total of 47 patients were analyzed, revealing common neurological disorders such as Lambert-Eaton myasthenic syndrome (LEMS) and encephalomyelitis, along with significant associations with specific neural antibodies.
- The findings indicate that many patients initially presented without identifiable skin tumors but had lymph node metastases, and those without a primary tumor had a lower mortality rate compared to those with identified tumors.
Heterozygous p.Leu39del is a major cause of slow-progressing juvenile ALS.
J Neurol Neurosurg Psychiatry
February 2024
[Multidisciplinary care of patients with Myotonic Dystrophy type 1 (DM1) in South Aquitaine].
Med Sci (Paris)
November 2021
DM1 is characterized by a multisystemic involvement. Our objective was to determine the proportion of adequate follow-up for each affected organ in DM1 patients based on the recently published American and Spanish recommendations. To this end, we conducted a descriptive cross-sectional survey by phone in adult, genetically proven DM1 patients followed in the two French neuromuscular centers of Bayonne and Hendaye located in South Aquitaine, France.
View Article and Find Full Text PDFAtaxia-telangiectasia (A-T) is a recessive disorder caused by biallelic pathogenic variants of ataxia-telangiectasia mutated (ATM). This disease is characterized by progressive ataxia, telangiectasia, immune deficiency, predisposition to malignancies, and radiosensitivity. However, hypomorphic variants may be discovered associated with very atypical phenotypes, raising the importance of evaluating their pathogenic effects.
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