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Evaluating plasma biomarkers NfL, GFAP, GDF15, and FGF21 as indicators of disease severity in Charcot-Marie Tooth patients.
Front Neurol
January 2025
14th European Reference Network in Neuromuscular Disorders (EURO-NMD), Scientific Laboratory of Molecular Genetics, Riga Stradins University, Riga, Latvia.
Background: Charcot-Marie-Tooth disease (CMT), a slowly advancing hereditary nerve disorder, presents a significant challenge in the medical field. Effective drugs for treatment are lacking, and we struggle to find sensitive markers to track the disease's severity and progression. In this study, our objective was to investigate the levels of neurofilament light chain (NfL), glial fibrillary acid protein (GFAP), fibroblast growth factor 21 (FGF-21) and growth differentiation factor 15 (GDF-15) in individuals with CMT and to compare them to a control group.
View Article and Find Full Text PDFHereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics.
Eur J Neurol
February 2025
Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv, Israel.
Background: Hereditary transthyretin (ATTRv) amyloidosis is a rare, adult-onset autosomal-dominant disorder caused by pathogenic variants in the transthyretin (TTR) gene. Data about relevant variants in specific populations and typical initial manifestations may facilitate early diagnosis and treatment. We here describe the genetic landscape of ATTRv amyloidosis in Israel.
View Article and Find Full Text PDFTransthyretin variants impact blood-nerve barrier and neuroinflammation in amyloidotic neuropathy.
Brain
January 2025
Department of Neurology, National Taiwan University Hospital, Taipei, 100225, Taiwan.
Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a neurodegenerative disease caused by mutations in the gene encoding transthyretin (TTR). Despite amyloid deposition being pathognomonic for diagnosis, this pathology in nervous tissues cannot fully account for nerve degeneration, implying additional pathophysiology for neurodegeneration, which, however, has not yet been fully elucidated. In this study, neuroinflammation in ATTRv-PN was investigated by examining nerve morphometry, the blood-nerve barrier, and macrophage infiltration in the sural nerves of ATTRv-PN patients and the sciatic nerves of a complementary mouse system, i.
View Article and Find Full Text PDFDiagnostic Utility of Relative Apical Sparing Index in Cardiac Amyloidosis Subtypes: A Comparative Study of Immunoglobulin Light Chain and Transthyretin Amyloid Cardiomyopathy.
Echocardiography
February 2025
Cardiovascular Department, Tokushima University Hospital, Tokushima, Japan.
Background: Speckles tracking echocardiography imaging enables clinicians to detect subtle systolic dysfunction. The aim of the present study was to elucidate the differences in speckle tracking echocardiographic findings between immunoglobulin light chain amyloid cardiomyopathy (AL-CM) and transthyretin amyloid cardiomyopathy (TTR-CM).
Methods: The patients with a confirmed diagnosis of cardiac amyloidosis through cardiac biopsy from March 2013 to October 2022 were included.
Central Serous Chorioretinopathy Associated with Corticosteroid Use in a Patient with Leber Hereditary Optic Neuropathy: A Case Report.
Medicina (Kaunas)
December 2024
Clinic for Eye Disease, University Clinical Center of Serbia, 11000 Belgrade, Serbia.
. Leber hereditary optic neuropathy (LHON) is a condition characterized by bilateral acute or subacute vision loss in seemingly healthy individuals. Depending on the disease stage and initial presentation, it is often diagnosed as optic neuritis.
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