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Elderly-onset severe parkinsonism in Wilson disease: A case report
Wilson Disease (WD) is a genetic disorder of copper metabolism with neurological and hepatic presentations caused by mutations in the ATP7B gene [1]. During the early stages, various clinical symptoms make WD challenging to diagnose and treat [2]. It is common for WD patients to develop parkinsonism symptoms, but it rarely occurs over 351. Here, we reported an unusual case of an elderly WD patient with progressive parkinsonism and a unique therapy regimen. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - November 5, 2023 Category: Neurology Authors: Ke-Fan Li, Jun Li, Ya-Ping Liao, Si-Huan Zhu, Jagadish K. Chhetri, Huai-Zhen Chen, Wen-Ming Yang Source Type: research

Establishment of a Labile Bound Copper Reference Interval in a Healthy Population via an Inductively Coupled Plasma Mass Spectrometry Dual Filtration-Based Assay
CONCLUSIONS.—: Sex-specific reference intervals have now been established for LBC and LBC fraction. These data in conjunction with further testing of WD populations can be used to assess the sensitivity and specificity of LBC fraction in screening, monitoring, and diagnosis.PMID:37870242 | DOI:10.5858/arpa.2023-0259-OA (Source: Archives of Pathology and Laboratory Medicine)
Source: Archives of Pathology and Laboratory Medicine - October 23, 2023 Category: Laboratory Medicine Authors: Anna C Bitzer Jessica Fox Patrick L Day Vanessa K Pazdernik Carin Y Smith Michelle Wermers Paul J Jannetto Joshua A Bornhorst Source Type: research

Tackling the neurological manifestations in Wilson's disease - currently available treatment options
Expert Rev Neurother. 2023 Oct 16:1-11. doi: 10.1080/14737175.2023.2268841. Online ahead of print.ABSTRACTINTRODUCTION: Wilson's disease (WD) is a potentially treatable, inherited disorder resulting from impaired copper metabolism. Pathological copper accumulation causes a range of symptoms, most commonly hepatic and a wide spectrum of neurological symptoms including tremor, dystonia, chorea, parkinsonism, dysphagia, dysarthria, gait and posture disturbances. To reduce copper overload, anti-copper drugs are used that improve liver function and neurological symptoms in up to 85% of patients. However, in some WD patients, tr...
Source: Expert Review of Neurotherapeutics - October 16, 2023 Category: Neurology Authors: Tomasz Litwin Petr Dusek Agnieszka Antos Anna Cz łonkowska Jan Bembenek Source Type: research