This study explored whether inherited variants in genes causing the hereditary neuropathy condition Charcot-Marie-Tooth disease are associated with sensitivity to paclitaxel-induced peripheral neuropathy (PN). Hereditary neuropathy genes previously associated with risk of paclitaxel-induced PN were sequenced in paclitaxel-treated patients. Eight putative genetic predictors in five hereditary neuropathy genes (, , , and ) were tested for association with PN sensitivity after accounting for systemic exposure and clinical variables. rs7833751, a proxy for rs7001034, decreased PN sensitivity (additive model, β = -0.41; 95% CI: -0.66 to -0.17; p = 0.0011). None of the other genetic predictors were associated with PN sensitivity. Our results support prior evidence that rs7001034 is protective of PN and may be useful for individualizing paclitaxel treatment to prevent PN.
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http://dx.doi.org/10.2217/pgs-2020-0053 | DOI Listing |
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 PDFEchocardiography
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.
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.
View Article and Find Full Text PDFGenes (Basel)
January 2025
Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
The study presents a detailed examination and follow-up of a Slovenian patient with an Leber Hereditary Optic Neuropathy (LHON)-like phenotype and bilateral optic neuropathy in whom genetic analysis identified a novel variant :m.15309T>C (Ile188Thr). We provide detailed analysis of the clinical examinations of a male patient with bilateral optic neuropathy from the acute stage to 8 years of follow-up.
View Article and Find Full Text PDFInt J Pharm
January 2025
Université Paris-Saclay, Inserm, Maladies et hormones du système nerveux, 94276 Le Kremlin-Bicêtre, France. Electronic address:
Small interfering RNA (siRNA) has shown promising results for the treatment of Charcot-Marie-Tooth disease 1A (CMT1A) caused by overexpression of peripheral myelin protein (PMP22), leading to myelin dysfunction and axonal damage. Recently, we developed siRNA PMP22-squalene (SQ) nanoparticles (NPs) for intravenous use. Three consecutive injections of siRNA PMP22-SQ NPs at a cumulative dose of 1.
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