Publications by authors named "J Berciano"
The aim of this paper is to analyze the pathophysiological mechanisms acting in very early classic Guillain-Barré syndrome (GBS) (≤4 days of symptomatic onset). In this inaugural period, both in GBS and its animal model, experimental autoimmune neuritis, the outstanding pathological feature is inflammatory edema predominating in proximal nerve trunks, particularly spinal nerves, and possibly in preterminal nerve segments. Nerve trunks external to the subarachnoid angle possess epi- perineurium that is relatively inelastic and of low compliance.
View Article and Find Full Text PDFIntroduction: Alexander disease is caused by mutations in , the glial fibrillary acidic protein gene. External laryngeal tremor has not been reported in adult-onset Alexander disease (AOAxD). The aims of this work were to report one such case and to review the literature on palatopharyngeal tremor and AOAxD.
View Article and Find Full Text PDFArticle Synopsis
- - Spinocerebellar ataxia type 34 (SCA34) is a genetic disorder that leads to late-onset coordination issues and skin lesions, caused by mutations in the ELOVL4 gene, which is crucial for producing certain fatty acids important for brain health.
- - Research indicates that SCA34 patients may have lower levels of important fatty acids (C28, C30, C32, C34, and C36) and show myelin damage in the brain, potentially linked to the ELOVL4 mutations.
- - The authors propose that measuring specific fatty acid levels could help identify deficiencies in SCA34, and suggest that treatment with these fatty acids might improve symptoms, similar to treatments used for other
Purpose: We describe 3 families with Charcot-Marie-Tooth neuropathy (CMT), harboring a homozygous NDUFS6 NM_004553.6:c.309+5G>A variant previously linked to fatal Leigh syndrome.
View Article and Find Full Text PDFLetter to the Editor regarding "Immune-inflammation mapping in Guillain-Barré syndrome".
Clin Neurol Neurosurg
February 2024