Evidence map›Paper›PMID 36809423›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2023

Autonomic dysfunction-dominant phenotype in a Chinese family with biallelic GGC repeat expansions in NOTCH2NLC.

Bin Chen, Jing Jing, Gehong Dong, Yuzhi Shi, Cuiping Zhang, Yumei Zhang, An Wang, Hongfei Tai, Songtao Niu, Xingao Wang and 2 more

Abstract read
PubMed Publisher
In one paragraph

Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 48% 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

2 citing papers in PubMed, 1 citations in OpenAlex.

  1. Article
  2. 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

12 authors at 1 institution in 1 country.

Bin ChenDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, No.119 South 4Th Ring West Road, Fengtai District, Beijing, 100070, China.
Jing JingDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, No.119 South 4Th Ring West Road, Fengtai District, Beijing, 100070, China.
Gehong DongDepartment of Pathology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Yuzhi ShiDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, No.119 South 4Th Ring West Road, Fengtai District, Beijing, 100070, China.
Cuiping ZhangDepartment of Ultrastructural Pathology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Yumei ZhangChina National Clinical Research Center for Neurological Diseases, Beijing, China.
An WangDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, No.119 South 4Th Ring West Road, Fengtai District, Beijing, 100070, China.
Hongfei TaiDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, No.119 South 4Th Ring West Road, Fengtai District, Beijing, 100070, China.
Songtao NiuDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, No.119 South 4Th Ring West Road, Fengtai District, Beijing, 100070, China.
Xingao WangDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, No.119 South 4Th Ring West Road, Fengtai District, Beijing, 100070, China.
Hua PanDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, No.119 South 4Th Ring West Road, Fengtai District, Beijing, 100070, China.
Zaiqiang ZhangDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, No.119 South 4Th Ring West Road, Fengtai District, Beijing, 100070, China. ttyy0142011@126.com.ORCID http://orcid.org/0000-0002-0053-3451
Capital Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The GGC repeat expansions in the NOTCH2NLC gene are associated with multiple neurodegenerative disorders. Herein, we report the clinical phenotype in a family with biallelic GGC expansions in NOTCH2NLC. Autonomic dysfunction was a prominent clinical manifestation in three genetically confirmed patients without dementia, parkinsonism, and cerebellar ataxia for > 12 years. A 7-T brain magnetic resonance imaging in two patients revealed a change in the small cerebral veins. The biallelic GGC repeat expansions may not modify the disease progression in neuronal intranuclear inclusion disease. Autonomic dysfunction-dominant may expand the clinical phenotype of NOTCH2NLC.

Indexed as

Autonomic Nervous System DiseasesNerve Tissue ProteinsNeurodegenerative DiseasesTrinucleotide Repeat ExpansionBrainEast Asian PeopleHumansIntercellular Signaling Peptides and ProteinsIntranuclear Inclusion BodiesPhenotypeIntercellular Signaling Peptides and ProteinsNerve Tissue ProteinsNOTCH2NLC protein, humanAutonomic dysfunctionBiallelic GGC repeat expansionsDeep medullary veinsNeuronal intranuclear inclusion diseaseNOTCH2NLC

Identifiers

PMID36809423
OpenAlexW4321437224

What OpenQuestion holds

Textmetadata
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.