PMID- 33538206
OWN - NLM
STAT- MEDLINE
DCOM- 20210825
LR  - 20210825
IS  - 2167-9223 (Electronic)
IS  - 2167-8421 (Linking)
VI  - 22
IP  - 5-6
DP  - 2021 Aug
TI  - Genetics of frontotemporal dementia in China.
PG  - 321-335
LID - 10.1080/21678421.2021.1880596 [doi]
AB  - Backgbround: Frontotemporal dementia (FTD) is the second most common presenile 
      dementia, characterized by prominent behavioral, language, and cognitive 
      impairment, which has a strong genetic component contributing to its 
      pathogenesis. Due to geographical and ethnic variability, the prevalence of the 
      causative genes of FTD may be different. Methods: To explore the genetics of FTD 
      in the Chinese population, we reviewed 97 closely related studies that were 
      searched in PubMed and Web of Science. In this review, we summarized the 
      characteristics of each FTD gene. We also reassessed their pathogenicity and 
      revised some mutations from pathogenic to uncertain significance according to the 
      American College of Medical Genetics and Genomics (ACMG). Results: Thirty-two 
      rare variants in genes of MAPT, GRN, C9orf72, CHCHD10, VCP, and TBK1 were 
      identified in Chinese FTD populations, including 25 pathogenic mutations and 
      seven variants of uncertain significance (VUS). Among them, the frequency of rare 
      variants in the CHCHD10 gene was the highest. Surprisingly, twelve variants 
      reported as pathogenic mutations were revised as VUS by ACMG. The correlations 
      between genes and clinical manifestations were MAPT and frontotemporal dementia 
      and parkinsonism linked to chromosome 17 (FTDP-17), GRN and frontotemporal lobar 
      degeneration with TDP-43 proteinopathy (FTLD-TDP), C9orf72/CHCHD10/TBK1 and 
      amyotrophic lateral sclerosis (ALS)-FTD spectrum, and VCP corresponds inclusion 
      body myopathy associated with Paget disease of bone and frontotemporal dementia 
      (IBMPFD). Conclusions: It is necessary to strictly interpret the contributions of 
      genes to diseases by ACMG. MAPT is the most common pathogenic gene for FTD in 
      China.
FAU - Jiang, Yaling
AU  - Jiang Y
AD  - Department of Neurology, Xiangya Hospital, Central South University, Changsha, 
      China.
FAU - Jiao, Bin
AU  - Jiao B
AD  - Department of Neurology, Xiangya Hospital, Central South University, Changsha, 
      China.
AD  - National Clinical Research Center for Geriatric Disorders, Central South 
      University, Changsha, China.
AD  - Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South 
      University, Changsha, China, and.
FAU - Xiao, Xuewen
AU  - Xiao X
AD  - Department of Neurology, Xiangya Hospital, Central South University, Changsha, 
      China.
FAU - Shen, Lu
AU  - Shen L
AD  - Department of Neurology, Xiangya Hospital, Central South University, Changsha, 
      China.
AD  - National Clinical Research Center for Geriatric Disorders, Central South 
      University, Changsha, China.
AD  - Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South 
      University, Changsha, China, and.
AD  - Key Laboratory of Organ Injury, Aging and Regenerative Medicine of Hunan 
      Province, Changsha, China.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20210204
PL  - England
TA  - Amyotroph Lateral Scler Frontotemporal Degener
JT  - Amyotrophic lateral sclerosis & frontotemporal degeneration
JID - 101587185
SB  - IM
MH  - *Amyotrophic Lateral Sclerosis
MH  - China/epidemiology
MH  - *Frontotemporal Dementia/epidemiology/genetics
MH  - *Frontotemporal Lobar Degeneration
MH  - Humans
MH  - Mutation/genetics
OTO - NOTNLM
OT  - China
OT  - Frontotemporal dementia
OT  - amyotrophic lateral sclerosis
OT  - genetics
EDAT- 2021/02/05 06:00
MHDA- 2021/08/26 06:00
CRDT- 2021/02/04 08:37
PHST- 2021/02/05 06:00 [pubmed]
PHST- 2021/08/26 06:00 [medline]
PHST- 2021/02/04 08:37 [entrez]
AID - 10.1080/21678421.2021.1880596 [doi]
PST - ppublish
SO  - Amyotroph Lateral Scler Frontotemporal Degener. 2021 Aug;22(5-6):321-335. doi: 
      10.1080/21678421.2021.1880596. Epub 2021 Feb 4.