ArticleCase reports in neurological medicine2018
A Case of Parkinson's Disease with No Lewy Body Pathology due to a Homozygous Exon Deletion in
Article in Case reports in neurological medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 52 citations in OpenAlex.
- Improved Parkinsons disease motor score in a single-arm open-label trial of febuxostat and inosine.Medicine · 2020Trial
- Neuropathology in genetic Parkinson's disease: a focused review of pathological and clinical findings.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Tracking Motor Progression and Device-Aided Therapy Eligibility in Parkinson's Disease.Annals of clinical and translational neurology · 2026Article
- Imaging spatial transcriptomics reveals molecular patterns underlying accumulation of p-Ser129 α-synuclein in a transgenic mouse model.NPJ Parkinson's disease · 2026Article
- A unifying theory of brain signaling and its possible role in acquired chronic disease.Frontiers in neuroscience · 2026Article
- Alpha-Synuclein Neurobiology in Parkinson's Disease: A Comprehensive Review of Its Role, Mechanisms, and Therapeutic Perspectives.Brain sciences · 2025Review
- A personalised and comprehensive approach is required to suppress or replenish SNCA for Parkinson's disease.NPJ Parkinson's disease · 2025Review
- Unravelling the Role of Tyrosine and Tyrosine Hydroxylase in Parkinson's Disease: Exploring Nanoparticle-based Gene Therapies.CNS & neurological disorders drug targets · 2025Review
- Review
- Molecular properties and diagnostic potential of monoclonal antibodies targeting cytotoxic α-synuclein oligomers.NPJ Parkinson's disease · 2024Article
- Refining the clinical diagnosis of Parkinson's disease.Parkinsonism & related disorders · 2024Review
- History of Parkinson's Disease-Associated Gene,International journal of molecular sciences · 2023Review
- Mitochondrial Dysfunction in Dopaminergic Neurons Derived from Patients with LRRK2- and SNCA-Associated Genetic Forms of Parkinson's Disease.Current issues in molecular biology · 2023Article
- A new metabolic model ofLife science alliance · 2023Article
- Analysis of α-syn andFrontiers in cellular neuroscience · 2023Article
- Precision Medicine in Parkinson's Disease: From Genetic Risk Signals to Personalized Therapy.Brain sciences · 2022Review
- Molecular mechanisms of amyloid formation in living systems.Chemical science · 2022Review
- Effects of a Ketogenic Diet on Symptoms, Biomarkers, Depression, and Anxiety in Parkinson's Disease: A Case Study.Cureus · 2022Article
- Motor and non-motor circuit disturbances in early Parkinson disease: which happens first?Nature reviews. Neuroscience · 2022Review
- Neuroglial Senescence, α-Synucleinopathy, and the Therapeutic Potential of Senolytics in Parkinson's Disease.Frontiers in neuroscience · 2022Review
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Parkinson's disease (PD) is a clinical diagnosis based on the presence of cardinal motor signs, good response to levodopa, and no other explanations of the syndrome. Earlier diagnostic criteria required autopsy for a definite diagnosis based on neuronal loss in the substantia nigra pars compacta (SNpc) and the presence of Lewy bodies and neurites. Here, we present a patient who developed parkinsonism around the age of 20, with an excellent response to levodopa who, at age 65, received bilateral STN deep brain stimulation (DBS). The patient died at age 79. The autopsy showed severe neuronal loss in the SN without any Lewy bodies in the brainstem or in the hemispheres. Genetic screening revealed a homozygous deletion of exon 3-4 in the
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.