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Homozygous CADPS2 Mutations Cause Neurodegenerative Disease with Lewy Body-like Pathology in Parrots.

Oswaldo Lorenzo BetancorLivio GalosiLaura BonfiliAnna Maria EleuteriValentina CecariniRanieri VerinFabrizio DiniAnna-Rita AttiliSara BerardiLucia BiaginiPatrizia RobinoMaria Cristina StellaDora YearoutMichael O DorschnerDebby W TsuangGiacomo RossiCyrus P Zabetian
Published in: Movement disorders : official journal of the Movement Disorder Society (2022)
Our data suggest that a homozygous mutation in the CADPS2 gene causes a severe neurodegenerative phenotype with Lewy body-like pathology in parrots. Although CADPS2 variants have not been reported to cause PD, further investigation of the gene might provide important insights into the pathophysiology of Lewy body disorders. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.
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