Clinico-Genetic Profiles of Seven Patients With PINK1-Related Parkinson’s Disease: A Case Series From a Tertiary Care Centre in India and a Review of the Literature
PARK-PINK1 presents as an EOPD with tremor-predominant phenotype, good levodopa-responsiveness, early motor fluctuation and dyskinesia. We describe five novel variants in PINK1 gene.
Authors
- Ravi Yadav (ORCID: https://orcid.org/0000-0002-8016-9089)
- Prashant Phulpagar (ORCID: https://orcid.org/0000-0002-0982-8192)
- Nitish L. Kamble (ORCID: https://orcid.org/0000-0002-7933-8826)
- Babylakshmi Muthusamy (ORCID: https://orcid.org/0000-0002-2257-3630)
- Vikram Venkappayya Holla (ORCID: https://orcid.org/0000-0002-3634-2219)
- Pramod Kumar Pal (ORCID: https://orcid.org/0000-0002-4085-2377)
- Sneha Kamath (ORCID: https://orcid.org/0000-0002-7769-3330)
- A. Gunasekaran
Institutions
- Manipal Academy of Higher Education (IN)
- Institute of Bioinformatics (IN)
- National Institute of Mental Health and Neurosciences (IN)
- Kasturba Medical College, Manipal (IN)
Publication Details
- Journal
- Journal of Movement Disorders
- Published
- 2024-09-19
- DOI
- https://doi.org/10.14802/jmd.24157
- Citations
- 1
- Primary Topic
- Phytoplasmas and Hemiptera pathogens
- Type
- article
- Field-Weighted Citation Impact
- 0.60