PMID- 36816038
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20230224
IS  - 1664-8021 (Print)
IS  - 1664-8021 (Electronic)
IS  - 1664-8021 (Linking)
VI  - 14
DP  - 2023
TI  - Case Report: A novel mutation in WFS1 gene (c.1756G>A p.A586T) is responsible for 
      early clinical features of cognitive impairment and recurrent ischemic stroke.
PG  - 1072978
LID - 10.3389/fgene.2023.1072978 [doi]
LID - 1072978
AB  - Wolfram syndrome 1 (WFS1) gene mutations can be dominantly or recessively 
      inherited, and the onset of the clinical picture is highly heterogeneity in both 
      appearance and degree of severity. Different types of WFS1 mutations have been 
      identified. Autosomal recessive mutations in the WFS1 gene will underlie Wolfram 
      syndrome 1 (WS1), a rare and severe neurodegenerative disease characterized by 
      diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other 
      neurological, urological and psychiatric abnormalities. Other WFS1-related 
      disorders such as low-frequency sensorineural hearing impairment (LFSNHI) and 
      Wolfram syndrome-like disease with autosomal dominant transmission have been 
      described. It is difficult to establish genotype-phenotype correlations because 
      of the molecular complexity of wolframin protein. In this report, we presented a 
      case of WSF1 gene mutation-related disease with cognitive impairment as the 
      initial symptom and recurrent cerebral infarction in the course of the disease. 
      Brain structural imaging results suggested decreased intracranial volume, 
      dramatically reduced in cerebral cortex and cerebellum regions. Multimodal 
      molecular imaging results suggested Tau protein deposition in the corresponding 
      brain regions without Abeta pathology changes. These pathological changes may 
      indicate a role of WFS1 in neuronal vulnerability to tau pathology associated 
      with neurodegeneration and ischemia-induced damage.
CI  - Copyright (c) 2023 Chen, Zhang, Zhou and Li.
FAU - Chen, Yuan
AU  - Chen Y
AD  - Department of Neurology, Tianjin Huanhu Hospital, Clinical College of Neurology, 
      Neurosurgery, and Neurorehabilitation, Tianjin Medical University, Tianjin, 
      China.
AD  - Department of Neurology, Tianjin Huanhu Hospital affiliated to Nankai University, 
      Tianjin University Huanhu Hospital, Tianjin, China.
AD  - Tianjin Key Laboratory of Cerebral Vascular and Neurodegenerative Diseases, 
      Tianjin Neurosurgery Institute, Tianjin Huanhu Hospital, Tianjin, China.
FAU - Zhang, Miao
AU  - Zhang M
AD  - Department of Neurology, Tianjin Huanhu Hospital, Clinical College of Neurology, 
      Neurosurgery, and Neurorehabilitation, Tianjin Medical University, Tianjin, 
      China.
AD  - Department of Neurology, Tianjin Huanhu Hospital affiliated to Nankai University, 
      Tianjin University Huanhu Hospital, Tianjin, China.
AD  - Tianjin Key Laboratory of Cerebral Vascular and Neurodegenerative Diseases, 
      Tianjin Neurosurgery Institute, Tianjin Huanhu Hospital, Tianjin, China.
FAU - Zhou, Yuying
AU  - Zhou Y
AD  - Department of Neurology, Tianjin Huanhu Hospital, Clinical College of Neurology, 
      Neurosurgery, and Neurorehabilitation, Tianjin Medical University, Tianjin, 
      China.
AD  - Department of Neurology, Tianjin Huanhu Hospital affiliated to Nankai University, 
      Tianjin University Huanhu Hospital, Tianjin, China.
AD  - Tianjin Key Laboratory of Cerebral Vascular and Neurodegenerative Diseases, 
      Tianjin Neurosurgery Institute, Tianjin Huanhu Hospital, Tianjin, China.
FAU - Li, Pan
AU  - Li P
AD  - Department of Neurology, Tianjin Huanhu Hospital, Clinical College of Neurology, 
      Neurosurgery, and Neurorehabilitation, Tianjin Medical University, Tianjin, 
      China.
AD  - Department of Neurology, Tianjin Huanhu Hospital affiliated to Nankai University, 
      Tianjin University Huanhu Hospital, Tianjin, China.
AD  - Tianjin Key Laboratory of Cerebral Vascular and Neurodegenerative Diseases, 
      Tianjin Neurosurgery Institute, Tianjin Huanhu Hospital, Tianjin, China.
LA  - eng
PT  - Case Reports
DEP - 20230202
PL  - Switzerland
TA  - Front Genet
JT  - Frontiers in genetics
JID - 101560621
PMC - PMC9932685
OTO - NOTNLM
OT  - WFS1 gene mutation
OT  - cognitive impairment (CI)
OT  - ischemic cerebral infarction
OT  - neurodegeneration
OT  - wolframin protein
COIS- The authors declare that the research was conducted in the absence of any 
      commercial or financial relationships that could be construed as a potential 
      conflict of interest.
EDAT- 2023/02/24 06:00
MHDA- 2023/02/24 06:01
PMCR- 2023/02/02
CRDT- 2023/02/23 09:17
PHST- 2022/10/18 00:00 [received]
PHST- 2023/01/06 00:00 [accepted]
PHST- 2023/02/23 09:17 [entrez]
PHST- 2023/02/24 06:00 [pubmed]
PHST- 2023/02/24 06:01 [medline]
PHST- 2023/02/02 00:00 [pmc-release]
AID - 1072978 [pii]
AID - 10.3389/fgene.2023.1072978 [doi]
PST - epublish
SO  - Front Genet. 2023 Feb 2;14:1072978. doi: 10.3389/fgene.2023.1072978. eCollection 
      2023.