Clinical and genetic characteristics of patients with early-onset or familial parkinsonism: A retrospective single-center cohort
- 1Department of Neurology, Hebei Medical University Third Hospital, Shijiazhuang, Hebei, People’s Republic of China
- 2Department of Gastroenterology, Beijing Changping Hospital of Traditional Chinese Medicine, The Affiliated Changping Hospital of Beijing University of Chinese Medicine, Beijing, People’s Republic of China
Abstract
Background: Parkinson’s disease (PD) is the second most prevalent neurodegenerative disorder after Alzheimer’s disease. Hereditary causes account for 10–15% of cases but present considerably more complex clinical manifestations than idiopathic cases. It is therefore imperative to enhance clinicians’ recognition of hereditary forms. Methods: This study enrolled 29 patients with early‑onset or familial parkinsonism. 17 cases were identified with reportable genetic findings using PD-targeted or movement disorders gene panels. Clinical data and genetic data were collected. Results: Among 17 patients, PARK2/PRKN (n = 9) and PARK8/LRRK2 (n = 5) were predominant subtypes, with two cases of PARK14/PLA2G6, and one case of PARK18/EIF4G1. Clinically, bradykinesia affected 17/17 patients, rigidity 15/17, tremor 13/17, and dystonia 7/17 (including one oculogyric crisis). Hyperreflexia occurred in 6/17, cognitive impairment in 2/17, pyramidal signs in 2/17, ataxic dysarthria 1/17, and pes cavus in 1/17. Diurnal fluctuation and sleep benefit occurred exclusively in PARK2/PRKN and PARK14/PLA2G6 patients. Among patients with PRKN, 7/9 exhibited diurnal fluctuations: five had exon rearrangements, one had a splicing mutation, and one had a homozygous variant. Conversely, the two PARK2/PRKN patients without diurnal fluctuations showed no exon deletions/duplications. PARK18/EIF4G1 mutations may manifest incomplete penetrance. Conclusion: Among PARK2/PRKN patients in our cohort, a potential association between diurnal fluctuation and exon rearrangements may exist, although this observation requires cautious interpretation. Furthermore, these variants appear to cluster within the N-terminal region of the protein (the start of the RING1 domain and preceding regions). Beyond the common PARK2/PRKN subtype, PARK14/PLA2G6 may also be linked to diurnal fluctuation and sleep benefit.
Related
- Clinical characteristics and early hematoma dynamics in a selected cohort of 199 patients with spontaneous intracerebral hemorrhage who underwent 24-hour follow-up imaging: a retrospective single-center study
- Correlation Between Serum 25-Hydroxyvitamin D Level and Demographic and Clinical Characteristics of Patients with Vitiligo: A Single-Center Retrospective Study.
- Clinical characteristics and strabismus patterns in 61 patients with morning glory syndrome: a retrospective study
- Clinical characteristics and camouflaging behaviors in children and adolescents with late-diagnosed autism spectrum disorder: a retrospective descriptive study.
- Risk factors and immunological characteristics of SARS-CoV-2 RNA re-positivity in convalescent COVID-19 Patients: A retrospective study
BibTeX
@article{chen2026clinical,
title = {{Clinical and genetic characteristics of patients with early-onset or familial parkinsonism: A retrospective single-center cohort}},
author = {Jiannan Chen and Qi Hu and Shanshan Wei and Dongxuan Zhang and Zhe Zhao},
journal = {PLOS One},
year = {2026},
month = oct,
doi = {10.1371/journal.pone.0361198},
url = {https://doi.org/10.1371/journal.pone.0361198},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Clinical and genetic characteristics of patients with early-onset or familial parkinsonism: A retrospective single-center cohort
AU - Jiannan Chen
AU - Qi Hu
AU - Shanshan Wei
AU - Dongxuan Zhang
AU - Zhe Zhao
PY - 2026
DA - 2026/10/27
JO - PLOS One
DO - 10.1371/journal.pone.0361198
UR - https://doi.org/10.1371/journal.pone.0361198
AB - Background: Parkinson’s disease (PD) is the second most prevalent neurodegenerative disorder after Alzheimer’s disease. Hereditary causes account for 10–15% of cases but present considerably more complex clinical manifestations than idiopathic cases. It is therefore imperative to enhance clinicians’ recognition of hereditary forms. Methods: This study enrolled 29 patients with early‑onset or familial parkinsonism. 17 cases were identified with reportable genetic findings using PD-targeted or movement disorders gene panels. Clinical data and genetic data were collected. Results: Among 17 patients, PARK2/PRKN (n = 9) and PARK8/LRRK2 (n = 5) were predominant subtypes, with two cases of PARK14/PLA2G6, and one case of PARK18/EIF4G1. Clinically, bradykinesia affected 17/17 patients, rigidity 15/17, tremor 13/17, and dystonia 7/17 (including one oculogyric crisis). Hyperreflexia occurred in 6/17, cognitive impairment in 2/17, pyramidal signs in 2/17, ataxic dysarthria 1/17, and pes cavus in 1/17. Diurnal fluctuation and sleep benefit occurred exclusively in PARK2/PRKN and PARK14/PLA2G6 patients. Among patients with PRKN, 7/9 exhibited diurnal fluctuations: five had exon rearrangements, one had a splicing mutation, and one had a homozygous variant. Conversely, the two PARK2/PRKN patients without diurnal fluctuations showed no exon deletions/duplications. PARK18/EIF4G1 mutations may manifest incomplete penetrance. Conclusion: Among PARK2/PRKN patients in our cohort, a potential association between diurnal fluctuation and exon rearrangements may exist, although this observation requires cautious interpretation. Furthermore, these variants appear to cluster within the N-terminal region of the protein (the start of the RING1 domain and preceding regions). Beyond the common PARK2/PRKN subtype, PARK14/PLA2G6 may also be linked to diurnal fluctuation and sleep benefit.
SN - 1932-6203
ER -