Abstract
ObjectivesTo present our experience with ammonium tetrathiomolybdate (ATTM) in the decoppering phase treatment of Wilson's disease (WD) with neurological symptoms.MethodsAn uncontrolled longitudinal study was carried out to describe a case series of five patients diagnosed of WD with neurological symptoms in our hospital over the last 5 years and receiving ATTM for 8 (or 16) weeks. Unified Wilson's Disease Rating Scale (UWDRS), Global Assessment Scale (GAS) for WD and the Brewer‐adapted Unified Huntington's Disease Rating Scale (UHDRS) for WD, magnetic resonance imaging, and monitoring for potential adverse effects were carried out in all patients before starting ATTM and 3 months later when ATTM was stopped and zinc treatment was initiated.ResultsAll five patients presented neurological clinical improvement in UWDRS, GAS, and Brewer‐adapted UHDRS for WD. Neuroimaging improvement was present in 2/5 patients with brain edema reduction. Mild anemia, leukopenia, and elevation of transaminases were detected in 1 patient, with complete remission after stopping ATTM for 1 week and then restarting at a half dose.ConclusionATTM could be a good treatment for the initial treatment of WD with neurological symptoms due to its high efficacy, with a lower rate of neurological deterioration than the drugs currently available, despite the potential adverse effects.
Highlights
Wilson's disease (WD) is an inherited autosomal recessive disorder caused by mutations in the ATP7B gene that encodes for aP-type ATPase protein involved in copper transport and excretion
An uncontrolled longitudinal study was carried out to describe a case series of all patients who were diagnosed of WD with neurological symptoms in our hospital during the last 5 years and who were treated in the Department of Neurology with ammonium tetrathiomolybdate (ATTM) for 8 weeks
We present five patients affected of WD with neurological impairment treated as compassionate use with ATTM at a dose of 120 mg per day for 8 weeks
Summary
Wilson's disease (WD) is an inherited autosomal recessive disorder caused by mutations in the ATP7B gene that encodes for aP-type ATPase protein involved in copper transport and excretion. | wileyonlinelibrary.com/journal/brb3 1 of 7 | 2 of 7. ATP7B copper transporter, and its accumulation, it is less clear how ATP7B mutations influence the phenotype (Medici & LaSalle, 2019). The clinical symptoms are a result of organ dysfunction due to the direct or indirect effects of copper accumulation (Litwin et al, 2018). Subsequent copper accumulation in organs, mainly liver and brain and other organs, produces clinical manifestations that include hepatic, neurological, psychiatric, and ophthalmologic disorders (Ala, Walker, Ashkan, Dooley, & Schilsky, 2007; Kieffer & Medici, 2017; Pfeiffer, 2007)
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
