Brain-first forms of Parkinson's disease are over-represented in patients with non-responsive resting tremor
Motor subtypes in Parkinson's Disease (PD) are unstable over time, limiting mechanistic insights and biomarker discovery. We focused on Rest Tremor (RT) as a symptom to test for phenotype stability and link it to specific circuits and disease mechanisms. Using the PPMI cohort data over 5 years we found that RT is more stable than classical Tremor-Dominant definitions, a stability also seen for RT response to therapy. At time of diagnosis, the population of therapy-resistant RT patients was enriched with a brain-first PD profile as predicted by a-Synuclein origin site and connectome (SOC) model. Resistant-RT patients have lower gastrointestinal and cardiovascular symptoms, lower prevalence of probable REM-Sleep behaviour disorder, and higher dopaminergic asymmetry compared to therapy-responsive or no tremor patients. Treating RT as a distinct phenomenon revealed a relative phenotypic stability with treatment response being linked to different patterns of disease progression.
Authors
- Raquel Barbosa (ORCID: https://orcid.org/0000-0002-3138-2975)
- Joaquim Alves da Silva (ORCID: https://orcid.org/0000-0002-3967-3603)
- Marcelo Mendonça (ORCID: https://orcid.org/0000-0003-3587-8553)
- Pedro Antônio Muniz Ferreira (ORCID: https://orcid.org/0000-0002-9301-8298)
Institutions
- French Clinical Research Infrastructure Network (FR)
Publication Details
- Journal
- Neurobiology of Disease
- Published
- 2024-10-01
- DOI
- https://doi.org/10.1016/j.nbd.2024.106691
- Citations
- 1
- Primary Topic
- Neurological disorders and treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.37
Funders
- Michael J. Fox Foundation for Parkinson's Research
- Horizon 2020 Framework Programme
- HORIZON EUROPE Framework Programme
- Fundação para a Ciência e a Tecnologia