Evidence map›Paper›PMID 27098243›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2016

CNS involvement in CMTX1 caused by a novel connexin 32 mutation: a 6-year follow-up in neuroimaging and nerve conduction.

Chong Xie, Xiajun Zhou, Desheng Zhu, Wei Liu, Xiaoqing Wang, Hong Yang, Zezhi Li, Yong Hao, Guang-Xian Zhang, Yangtai Guan

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 pooled it
1.5field-weighted citation impact, top 20% 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

9 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.

  1. Systematic review of CMTX1 patients with episodic neurological dysfunction.Annals of clinical and translational neurology · 2021
    Pooled it
  2. Article
  3. Article
  4. Review
  5. Atypical Pediatric Demyelinating Diseases of the Central Nervous System.Current neurology and neuroscience reports · 2019
    Review
  6. Article
  7. Article
  8. Advances in clinical neurology through the journal "Neurological Sciences" (2015-2016).Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2017
    Article
  9. 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

10 authors at 6 institutions in 2 countries.

Chong XieDepartment of Neurology, Changhai Hospital, Second Military Medical University, Shanghai, 200433, China.
Xiajun ZhouDepartment of Neurology, Renji Hospital, Shanghai Jiaotong University, 160 Pujian Road, Shanghai, China.
Desheng ZhuDepartment of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
Wei LiuDepartment of Neurology, Changhai Hospital, Second Military Medical University, Shanghai, 200433, China.
Xiaoqing WangDepartment of Neurology, Changhai Hospital, Second Military Medical University, Shanghai, 200433, China.
Hong YangDepartment of Neurology, Shanghai Yangpu Geriatric Hospital, Shanghai, China.
Zezhi LiDepartment of Neurology, Renji Hospital, Shanghai Jiaotong University, 160 Pujian Road, Shanghai, China.
Yong HaoDepartment of Neurology, Renji Hospital, Shanghai Jiaotong University, 160 Pujian Road, Shanghai, China.
Guang-Xian ZhangDepartment of Neurology, Thomas Jefferson University, 900 Walnut Street, Suite 300, Philadelphia, PA, 19107, USA. Guang-Xian.Zhang@jefferson.edu.
Yangtai GuanDepartment of Neurology, Changhai Hospital, Second Military Medical University, Shanghai, 200433, China.
Renji Hospital · CNChanghai Hospital · CNFudan University · CNSecond Military Medical University · CNThomas Jefferson University · USYangPu Geriatric Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

X-linked Charcot-Marie-Tooth disease, type 1 (CMTX1) is one of the most common inherited neurological disorders. Obvious CNS involvement is relatively rare in CMTX1 patients. A 24-year-old male with CMTX1 presented with three transient stroke-like attacks, and was followed up regularly for 6 years with brain MRI and electrophysiological examination. Transient symmetrical high signals on T2 imaging and restricted diffusion were found in bilateral deep white matter. Electrophysiological measurement revealed a sensorimotor peripheral neuropathy with slightly reduced nerve conduction velocities. A novel thymine to cytosine mutation at nucleotide position 445 in the connexin 32 allele of the GJB1 gene was identified. During the 6-year longitudinal study, patient's motor and sensory function did not worsen; radiological abnormalities correlated with episodes of CNS dysfunction and resolved after clinical recovery; electrophysiological records showed no obvious change. Little change in the patient's clinical, radiological and electrophysiological results over the follow-up reflected a slow disease progression.

Indexed as

Magnetic Resonance ImagingMuscular Atrophy, SpinalCentral Nervous SystemConnexinsGap Junction beta-1 ProteinHumansImage Processing, Computer-AssistedLongitudinal StudiesMaleMutationNeural ConductionYoung AdultConnexinsGap Junction beta-1 ProteinCNS involvementCx32 gene mutationNerve conduction velocitySymmetrical white matter abnormalitiesX-linked Charcot-Marie-Tooth disease

Identifiers

PMID27098243
OpenAlexW2340313170

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.