Evidence map›Paper›PMID 38622158›Full record

ArticleNPJ Parkinson's disease2024

Resequencing the complete SNCA locus in Indian patients with Parkinson's disease.

Asha Kishore, Marc Sturm, Kanchana Soman Pillai, Christopher Hakkaart, Divya Kalikavil Puthanveedu, Madhusoodanan Urulangodi, Syam Krishnan, Ashwin Ashok Kumar Sreelatha, Roopa Rajan, Pramod Kumar Pal and 7 more

Open access · goldAbstract read
In one paragraph

Article in NPJ Parkinson's disease, 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
1.8field-weighted citation impact, top 15% of its field
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, 5 citations in OpenAlex.

  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

17 authors at 7 institutions in 2 countries.

Asha KishoreComprehensive Care Centre for Movement Disorders, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Kochi, Kerala, India.
Marc SturmInstitute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.ORCID http://orcid.org/0000-0002-6552-8362
Kanchana Soman PillaiParkinson and Movement Disorder Centre, Centre for Excellence in Neurosciences, Aster Medcity, Kochi, Kerala, India.
Christopher HakkaartInstitute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Divya Kalikavil PuthanveeduComprehensive Care Centre for Movement Disorders, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Kochi, Kerala, India.
Madhusoodanan UrulangodiComprehensive Care Centre for Movement Disorders, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Kochi, Kerala, India.ORCID http://orcid.org/0000-0002-1536-3686
Syam KrishnanComprehensive Care Centre for Movement Disorders, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Kochi, Kerala, India.ORCID http://orcid.org/0000-0002-2889-2771
Ashwin Ashok Kumar SreelathaCentre for Genetic Epidemiology, Institute for Clinical Epidemiology and Applied Biometry, University of Tübingen, Tübingen, Germany.
Roopa RajanDepartment of Neurology, All India Institute for Medical Sciences, New Delhi, India.
Pramod Kumar PalDepartment of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
Ravi YadavDepartment of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
Gangadhara SarmaComprehensive Care Centre for Movement Disorders, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Kochi, Kerala, India.
Nicolas CasadeiInstitute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.ORCID http://orcid.org/0000-0003-2209-0580
Thomas GasserDepartment for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.ORCID http://orcid.org/0000-0002-1069-1146
Peter BauerInstitute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Olaf RiessInstitute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Manu SharmaCentre for Genetic Epidemiology, Institute for Clinical Epidemiology and Applied Biometry, University of Tübingen, Tübingen, Germany. manu.sharma@uni-tuebingen.de.ORCID http://orcid.org/0000-0002-1260-5416
University of Tübingen · DESree Chitra Thirunal Institute for Medical Sciences and Technology · INNational Institute of Mental Health and Neurosciences · INAll India Institute of Medical Sciences · INAster Medcity · INCentogene (Germany) · DEGerman Center for Neurodegenerative Diseases · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The genetic loci implicated in familial Parkinson's disease (PD) have limited generalizability to the Indian PD population. We tested mutations and the frequency of known mutations in the SNCA gene in a PD cohort from India. We selected 298 PD cases and 301 age-matched controls for targeted resequencing (before QC), along with 363 PD genomes of Indian ancestry and 1029 publicly available whole genomes from India as healthy controls (IndiGenomes), to determine the frequency of monogenic SNCA mutations. The raw sequence reads were analyzed using an in-house analysis pipeline, allowing the detection of small variants and structural variants using Manta. The in-depth analysis of the SNCA locus did not identify missense or structural variants, including previously identified SNCA mutations, in the Indian population. The familial forms of SNCA gene variants do not play a major role in the Indian PD population and this warrants further research in the under-represented population.

Identifiers

PMID38622158
PMCPMC11018851
OpenAlexW4394822660

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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.