Evidence map›Paper›PMID 42891364›Full record

ArticleTremor and other hyperkinetic movements (New York, N.Y.)2026

Clinical and Genetic Spectrum of

Archita Makharia, Atif I Shaikh, Jacky Ganguly, Ayush Agarwal, Vijayashankar Paramanandam, Mitesh Chandarana, Soaham Desai, Vaibhav Mathur, Kartika Gulati, Sanjay Pandey and 3 more

Abstract readMulticenter Study
In one paragraph

Article in Tremor and other hyperkinetic movements (New York, N.Y.), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

13 authors.

Archita MakhariaDepartment of Neurology, All India Institute of Medical Sciences, New Delhi, India.ORCID https://orcid.org/0000-0002-6639-3949
Atif I ShaikhDepartment of Neurosciences, Christian Medical College, Vellore, India.ORCID https://orcid.org/0000-0002-7934-8071
Jacky GangulyDepartment of Neurology, Institute of Neurosciences, Kolkata, India.ORCID https://orcid.org/0000-0002-5098-3311
Ayush AgarwalDepartment of Neurology, All India Institute of Medical Sciences, New Delhi, India.ORCID https://orcid.org/0000-0003-2303-1961
Vijayashankar ParamanandamDepartment of Neurology, Apollo Hospitals, Greams Road, Chennai, India.ORCID https://orcid.org/0000-0003-1197-5308
Mitesh ChandaranaMarengo CIMS Hospital, Ahmedabad, India.ORCID https://orcid.org/0000-0003-1108-4046
Soaham DesaiZydus Hospitals, Anand, India.ORCID https://orcid.org/0000-0003-0378-1888
Vaibhav MathurNarayana Health, Jaipur, India.ORCID https://orcid.org/0000-0003-0781-339X
Kartika GulatiAmrita Institute of Medical Sciences, Faridabad, India.ORCID https://orcid.org/0000-0001-6064-712X
Sanjay PandeyAmrita Institute of Medical Sciences, Faridabad, India.ORCID https://orcid.org/0000-0003-1771-9137
Hrishikesh KumarDepartment of Neurology, Institute of Neurosciences, Kolkata, India.ORCID https://orcid.org/0000-0002-9789-7832
Achal Kumar SrivastavaDepartment of Neurology, All India Institute of Medical Sciences, New Delhi, India.ORCID https://orcid.org/0000-0002-4590-7947
Divyani GargDepartment of Neurology, All India Institute of Medical Sciences, New Delhi, India.ORCID https://orcid.org/0000-0003-0532-3370

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: To characterize the geographic and molecular spectrum of genetically confirmed Methods: We conducted a multicentre retrospective study across eight tertiary movement disorder centres in India. Clinical, investigational, genetic, treatment, and follow-up data were collected. Results: Eighteen unrelated patients from eight tertiary centres were included. Chorea was the most common initial manifestation (10/18), and 8/18 patients were evaluated more than five years after symptom onset. Longer intervals to tertiary evaluation were descriptively more frequent among patients with non-choreic presentations, particularly seizures. Twenty-three distinct Conclusion:

Indexed as

ChoreaNeuroacanthocytosisVesicular Transport ProteinsAdolescentAdultFemaleHumansIndiaMaleMiddle AgedRetrospective StudiesYoung AdultVesicular Transport ProteinsVPS13A protein, humanchorea-acanthocytosisdiagnostic delaygenetic spectrumIndiaVPS13A disease

Identifiers

PMID42891364
PMCPMC13674526

What OpenQuestion holds

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Registered trials

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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.