ArticleAnnals of clinical and translational neurology2021
Peripheral synucleinopathy in Parkinson disease with LRRK2 G2385R variants.
Article in Annals of clinical and translational neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.
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Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 21 citations in OpenAlex.
- Genetic heterogeneity on sleep disorders in Parkinson's disease: a systematic review and meta-analysis.Translational neurodegeneration · 2022Pooled it
- Self-Reported Visual Complaints in People with Parkinson's Disease: A Systematic Review.Journal of Parkinson's disease · 2022Pooled it
- Review
- Characterizing Cutaneous α-Synuclein Deposition and Seeding Activity in Parkinson's Disease Subtypes.Annals of clinical and translational neurology · 2026Article
- Cutaneous Phosphorylated Alpha-Synuclein in Lewy Body Dementia.Annals of clinical and translational neurology · 2026Article
- Review
- A cross-database bibliometric analysis of rapid eye movement sleep behavior disorder in Parkinson's disease research.Frontiers in aging neuroscience · 2025Article
- Advances in autonomic dysfunction research in Parkinson's disease.Frontiers in aging neuroscience · 2025Review
- Longitudinal decline in DAT binding in Parkinson's disease: connections with sleep disturbances.BMC medicine · 2024Article
- Peripheral cutaneous synucleinopathy characteristics in genetic Parkinson's disease.Frontiers in neurology · 2024Article
- A comprehensive study of clinicopathological and genetic features of neuronal intranuclear inclusion disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Article
- Alpha-Synuclein in Peripheral Tissues as a Possible Marker for Neurological Diseases and Other Medical Conditions.Biomolecules · 2023Review
- Fluid and Biopsy Based Biomarkers in Parkinson's Disease.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2023Review
- Neuroprotective Potentials of Flavonoids: Experimental Studies and Mechanisms of Action.Antioxidants (Basel, Switzerland) · 2023Review
- Movement disorders and neuropathies: overlaps and mimics in clinical practice.Journal of neurology · 2022Review
- Pathophysiological evaluation of the LRRK2 G2385R risk variant for Parkinson's disease.NPJ Parkinson's disease · 2022Article
- Skin alpha-synuclein deposit patterns: A predictor of Parkinson's disease subtypes.EBioMedicine · 2022Review
- α-Synuclein Deposition in Sympathetic Nerve Fibers in Genetic Forms of Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2021Observational
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveRecent studies demonstrated cutaneous phosphorylated α synuclein (p-syn) deposition in idiopathic and some monogenetic Parkinson disease (PD) patients, suggesting synucleinopathy identical to that in the brain. Although the LRRK2 Gly2385Arg (G2385R) variant is a common PD risk factor in the Chinese population, the pathogenesis of PD with G2385R variant has not been reported. We investigated whether synucleinopathy and small fiber neuropathy (SFN) are associated with the G2385R variant.
methodsWe performed genotyping in 59 PD patients and 30 healthy controls from the skin biopsy database. The scale of SFN was assessed, as well as bright-field immunohistochemistry against antiprotein gene product 9.5 (PGP9.5) and double-labeling immunofluorescence with anti-PGP9.5 and anti-p-syn.
results(1) p-syn deposited in the skin nerve fibers of G2385R carrier PD patients, which was a different pattern from noncarriers, without no difference observed between proximal and distal regions; (2) decreased distal intraepidermal nerve fiber density was found in both the G2385R carrier and the noncarrier PD group, and was negatively correlated with composite autonomic symptom score-31 item (COMPASS-31) scores; (3) PD patients with the G2385R variant showed a more peculiar clinical profile than noncarriers with a higher nonmotor symptoms scale, COMPASS-31 score, and levodopa equivalent dose, in addition to an increased prevalence of certain autonomic symptoms or rapid eye movement sleep behavior disorders.
interpretationSynucleinopathy is related to the LRRK2 G2385R genotype and implies a different pathogenesis in G2385R variant carriers and noncarriers. This study also extended the clinical profiles of PD patients with the G2385R variant.
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