Evidence map›Paper›PMID 40927191›Full record

ArticleFrontiers in medicine2025

Neuronal ceroid lipofuscinosis type 5 in Russia: first case report and literature review.

Olga P Parshina, Anastasiia A Buianova, Svetlana V Mikhaylova, Sergey V Piliya, Alikhan A Alikhanov, Elena K Donyush, Zinaida A Kondrashova, Nadezhda V Liakhova, Oleg N Suchalko, Alina F Samitova and 4 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in medicine, 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

14 authors.

Olga P ParshinaGenomics Laboratory, Institute of Translational Medicine Pirogov Russian National Research Medical University, Moscow, Russia.
Anastasiia A BuianovaGenomics Laboratory, Institute of Translational Medicine Pirogov Russian National Research Medical University, Moscow, Russia.
Svetlana V MikhaylovaRussian Children's Clinical Hospital, Moscow, Russia.
Sergey V PiliyaRussian Children's Clinical Hospital, Moscow, Russia.
Alikhan A AlikhanovRussian Children's Clinical Hospital, Moscow, Russia.
Elena K DonyushRussian Children's Clinical Hospital, Moscow, Russia.
Zinaida A KondrashovaRussian Children's Clinical Hospital, Moscow, Russia.
Nadezhda V LiakhovaRussian Children's Clinical Hospital, Moscow, Russia.
Oleg N SuchalkoGenomics Laboratory, Institute of Translational Medicine Pirogov Russian National Research Medical University, Moscow, Russia.
Alina F SamitovaGenomics Laboratory, Institute of Translational Medicine Pirogov Russian National Research Medical University, Moscow, Russia.
Anna O ShmitkoGenomics Laboratory, Institute of Translational Medicine Pirogov Russian National Research Medical University, Moscow, Russia.
Mayya V ZazhivikhinaRussian Children's Clinical Hospital, Moscow, Russia.
Natalya A VotyakovaRussian Children's Clinical Hospital, Moscow, Russia.
Dmitriy O KorostinGenomics Laboratory, Institute of Translational Medicine Pirogov Russian National Research Medical University, Moscow, Russia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Neuronal ceroid lipofuscinosis (NCL) is one of the most common causes of childhood dementia. NCL type 5 is characterized by epileptic seizures, cognitive decline, and progressive vision loss. Whole exome sequencing was performed, and the identified variant was confirmed by Sanger sequencing. Despite various therapeutic regimens, including novel approaches, seizure control could not be achieved. The disease was caused by a previously undescribed pathogenic variant

Indexed as

CLN5epilepsyneurodegenerative diseaseneuronal ceroid lipofuscinosisnext-generation sequencing

Identifiers

PMID40927191
PMCPMC12415006

What Socratic 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 Socratic graph.