Pure Parkinsonism as Possible Phenotype Expansion of THAP1-Related Disorders

Mov Disord. 2024 Feb 15. doi: 10.1002/mds.29745. Online ahead of print.

Authors

Enrico Ambrosini¹, Rita Cancilla², Jefri Jeya Paul³, Peter Bauer³, Barbara Garavaglia⁴, Valeria Barili⁵, Antonio Percesepe^{1

5}, Anna Negrotti⁶

Affiliations

¹ Medical Genetics Unit, University Hospital of Parma, Parma, Italy.
² Neurology, Department of Medicine and Surgery, University of Parma, Parma, Italy.
³ Centogene GmbH, Rostock, Germany.
⁴ Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico "C. Besta", Milan, Italy.
⁵ Medical Genetics, Department of Medicine and Surgery, University of Parma, Parma, Italy.
⁶ Neurology Unit, University Hospital of Parma, Parma, Italy.

PMID: 38358056
DOI: 10.1002/mds.29745

No abstract available

Keywords: THAP1; dystonia; next-generation sequencing; parkinsonism; phenotype expansion.

Publication types

Letter

Grants and funding

Associazione Emma e Ernesto Rulfo per la Genetica Medica