Evidence map›Paper›PMID 40799282›Full record

ArticleBrain communications2025

Rare

Badri N Vardarajan, Pedro Sanchez Roa, Christine Y Kim, Peter Stoeter, Diones Rivera Mejia, Alexander Houck, Amanda Chan, Dolly Reyes-Dumeyer, Angel Piriz, Robert Fee and 10 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Brain communications, 2025. 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

20 authors.

Badri N VardarajanDepartment of Neurology, Vagelos College of Physicians and Surgeons, Columbia University, and the New York Presbyterian Hospital, New York, NY 10032, USA.
Pedro Sanchez RoaDepartment of Neurology, Centro Medico de Diabetes, Obesidad y Especialidades (CEMDOE), Santo Domingo, 10135, Dominican Republic.
Christine Y KimDepartment of Neurology, Vagelos College of Physicians and Surgeons, Columbia University, and the New York Presbyterian Hospital, New York, NY 10032, USA.
Peter StoeterDepartment of Radiology, CEDIMAT, Plaza de la Salud, Santo Domingo, 10514, Dominican Republic.
Diones Rivera MejiaDepartment of Neurosurgery, CEDIMAT, Plaza de la Salud, Santo Domingo, 10514, Dominican Republic.
Alexander HouckDepartment of Neurology, Vagelos College of Physicians and Surgeons, Columbia University, and the New York Presbyterian Hospital, New York, NY 10032, USA.
Amanda ChanDepartment of Neurology, Vagelos College of Physicians and Surgeons, Columbia University, and the New York Presbyterian Hospital, New York, NY 10032, USA.
Dolly Reyes-DumeyerDepartment of Neurology, Vagelos College of Physicians and Surgeons, Columbia University, and the New York Presbyterian Hospital, New York, NY 10032, USA.
Angel PirizDepartment of Neurology, Vagelos College of Physicians and Surgeons, Columbia University, and the New York Presbyterian Hospital, New York, NY 10032, USA.
Robert FeeDepartment of Neurology, Vagelos College of Physicians and Surgeons, Columbia University, and the New York Presbyterian Hospital, New York, NY 10032, USA.
Francisco Blanco-AbinaderDepartment of Neurology, Vagelos College of Physicians and Surgeons, Columbia University, and the New York Presbyterian Hospital, New York, NY 10032, USA.
Francisco A RoedanThe Gertrude H. Sergievsky Center, Vagelos College of Physicians and Surgeons, Columbia University, and the New York Presbyterian Hospital, New York, NY 10032, USA.
Elizabeth RiceDepartment of Anatomy, Physiology and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD 20814-4799, USA.
Samantha ChristensonDepartment of Anatomy, Physiology and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD 20814-4799, USA.
Rebecca ChiuDepartment of Neurology, Vagelos College of Physicians and Surgeons, Columbia University, and the New York Presbyterian Hospital, New York, NY 10032, USA.
Tamil I GunasekaranDepartment of Neurology, Vagelos College of Physicians and Surgeons, Columbia University, and the New York Presbyterian Hospital, New York, NY 10032, USA.
Rafael A LantiguaDepartment of Medicine, Vagelos College of Physicians and Surgeons, Columbia University, and the New York Presbyterian Hospital, New York, NY 10032, USA.
Clifton DalgardDepartment of Anatomy, Physiology and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD 20814-4799, USA.
Serge PrzedborskiDepartment of Neurology, Vagelos College of Physicians and Surgeons, Columbia University, and the New York Presbyterian Hospital, New York, NY 10032, USA.
Richard MayeuxDepartment of Neurology, Vagelos College of Physicians and Surgeons, Columbia University, and the New York Presbyterian Hospital, New York, NY 10032, USA.ORCID https://orcid.org/0000-0001-6519-9696

Funding

Development of a Genetic Testing and Counseling for Pantothenate Kinase Associated Neurodegeneration in the Dominican RepublicR21NS139338 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MAYEUX, RICHARD P · 2025 to 2025
$358k
NINDS NIH HHS R21 NS139338
6 · The paper itself

Abstract

Pantothenate-kinase-associated neurodegeneration (PKAN) is a rare, autosomal recessive neurological disorder characterized by the progressive degeneration of specific regions in the brain and is invariably fatal. Several individuals in families affected by PKAN were known to live in an isolated region in a southwestern province of the Dominican Republic and had been previously studied. Forty-six individuals with PKAN in 34 families were evaluated for disease manifestations using the PKAN-Disease Rating Scale and the Leiter-3 Cognitive and Neuropsychological assessment. We completed whole genome sequencing in the 46 affected individuals and their 80 unaffected relatives. Haplotype analysis was used to identify shared genetic patterns among individuals with the mutation to identify common ancestral and founder effects. The classic form of PKAN was observed in 22 individuals with moderate-to-severe oromandibular dystonia and limb dystonia and onset in early childhood. The atypical form was observed in 24 individuals with Parkinsonism, dystonia, cognitive deficits, and later onset of disease. A

Indexed as

dystoniafounder effectsgenetic sequencingpantothenate-kinase

Identifiers

PMID40799282
PMCPMC12342184

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.