Availability of data and materials
The additional data that support the findings of this study are available from the corresponding author, ZKW, upon reasonable request.
References
Dong S, Zhu D, Yang W, Li J, Chen X (2022) Prominent lower motor neuron involvement in patients with intermediate-length CAG repeats in ATXN3 gene. Neurol Sci. https://doi.org/10.1007/s10072-022-06325-z
Rosini F, Pretegiani E, Battisti C, Dotti MT, Federico A, Rufa A (2020) Eye movement changes in autosomal dominant spinocerebellar ataxias. Neurol Sci 41(7):1719–1734. https://doi.org/10.1007/s10072-020-04318-4
Park JM, Kim SY, Park D, Park JS (2020) Effect of edaravone therapy in Korean amyotrophic lateral sclerosis (ALS) patients. Neurol Sci 41(1):119–123. https://doi.org/10.1007/s10072-019-04055-3
de Almeida FEO, do Carmo Santana AK, de Carvalho FO (2021) Multidisciplinary care in amyotrophic Lateral Sclerosis: a systematic review and meta-analysis. Neurol Sci 42(3):911–23. https://doi.org/10.1007/s10072-020-05011-2
Barć K, Kuźma-Kozakiewicz M (2020) Gastrostomy and mechanical ventilation in amyotrophic lateral sclerosis: how best to support the decision-making process? Neurol Neurochir Pol 54(5):366–377. https://doi.org/10.5603/PJNNS.a2020.0081
Funding
Gifts from the Donald G. and Jodi P. Heeringa Family.
Jaroslaw Dulski:
Employment: Medical University of Gdansk, Copernicus PL Ltd., MJ Jarosław Dulski.
Honoraria: VM Media Ltd., Radosław Lipiński 90 Consulting, Ipsen.
Grants: the Haworth Family Professorship in Neurodegenerative Diseases fund.
Alexandra Estela Soto Piña:
Employment: Universidad Autónoma del Estado de México
Rana Hanna Al-Shaikh:
Employment: Mayo Clinic Florida
Leonard Petrucelli:
Intellectual Property Rights: AAV-C9orf72 mice have been licensed.
pTD-43 antibody has been licensed.
Consultancies: Expansion Therapeutics.
Employment: Mayo Clinic Florida
Zbigniew K. Wszolek:
Intellectual Property Rights: Mayo Clinic and ZKW have a financial interest in technologies entitled, “Identification of Mutations in PARK8, a Locus for Familial Parkinson's Disease” and “Identification of a Novel LRRK2 Mutation, 6055G > A (G2019S), Linked to Autosomal Dominant Parkinsonism in Families from Several European Populations”. Those technologies have been licensed to a commercial entity, and to date, ZKW has received royalties < $1.500 through Mayo Clinic in accordance with its royalty sharing policies.
Consultancies: Vigil Neuroscience, Inc.
Advisory Boards: Vigil Neuroscience, Inc.
Employment: Mayo Clinic Florida
Honoraria: Polish Neurological Society—co-editor-in-chief of Neurologia i Neurochirurgia Polska
Grants: NIH/NIA and NIH/NINDS (1U19AG063911, FAIN: U19AG063911), Mayo Clinic Center for Regenerative Medicine, Mayo Clinic in Florida Focused Research Team Program, the gifts from the Donald G. and Jodi P. Heeringa Family, the Haworth Family Professorship in Neurodegenerative Diseases fund, and The Albertson Parkinson's Research Foundation. He serves as PI or Co-PI on Biohaven Pharmaceuticals, Inc. (BHV4157-206 and BHV3241-301), Neuraly, Inc. (NLY01-PD-1), and Vigil Neuroscience, Inc. (VGL101-01.001) grants.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Ethical approval
All aspects of the research were approved by the Institutional Review Boards of Mayo Clinic.
Informed consent
Written informed consent was collected from the patient.
Consent to participate
Written informed consent was collected from the patient.
Conflict of interest
The authors declare no competing interests.
Additional information
Publisher's note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
About this article
Cite this article
Dulski, J., Piña, A.E.S., Al-Shaikh, R.H. et al. Predominant motor neuron involvement as a manifestation of pathogenic (full range) ATXN3 mutations. Neurol Sci 44, 389–392 (2023). https://doi.org/10.1007/s10072-022-06410-3
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10072-022-06410-3