Evidence map›Paper›PMID 39294919›Full record

ArticleJournal of movement disorders2024

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.

Aravind Gunasekaran, Vikram V Holla, Prashant Phulpagar, Sneha D Kamath, Nitish Kamble, Ravi Yadav, Babylakshmi Muthusamy, Pramod Kumar Pal

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of movement disorders, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Genetic Sketch of Parkinson's Disease in India.Annals of Indian Academy of Neurology · 2025
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Aravind GunasekaranDepartment of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India.
Vikram V HollaDepartment of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India.
Prashant PhulpagarInstitute of Bioinformatics, International Technology Park, Bangalore, India.
Sneha D KamathDepartment of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India.
Nitish KambleDepartment of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India.
Ravi YadavDepartment of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India.
Babylakshmi MuthusamyInstitute of Bioinformatics, International Technology Park, Bangalore, India.
Pramod Kumar PalDepartment of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India.

Funding

Department of Biotechnology, Government of India BT/PR26428/MED/12/783/2017
6 · The paper itself

Abstract

objectiveRecessive variants in the PINK1 gene are known causes of early-onset Parkinson's disease (EOPD). To describe the clinical features and genetic profiles of patients with PINK1-related Parkinson's disease (PARK-PINK1) mutations.

methodsWe conducted a retrospective chart review of the demographic, clinical and genetic details of patients from our database carrying biallelic PINK1 variants.

resultsA total of 7 patients whose median age at onset was 33 years (range: 20-49) were recruited. All had asymmetrical onset, tremors were present in 4 patients, abnormal posturing was present in 2 patients, and slowness was present in 1 patient. The parkinsonism phenotype was noted in 6 patients (with dystonia in four) and isolated dystonia in one. Among the 6 patients with parkinsonism, five had rest tremors, all had good levodopa responses, and four had motor fluctuations with choreiform dyskinesia. Exome sequencing revealed biallelic pathogenic/likely pathogenic variants, five of which were novel.

conclusionPARK-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.

Indexed as

Autosomal recessive parkinsonismEarly onset Parkinson’s diseaseGeneticsPARK-PINK1

Identifiers

PMID39294919
PMCPMC11540546

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

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.