Frequency of common genetic forms of frontotemporal dementia in a Russian cohort of patients

2020 ◽  
pp. 30-32
Author(s):  
Ю.А. Шпилюкова ◽  
Е.Ю. Федотова ◽  
Н.Ю. Абрамычева ◽  
С.Н. Иллариошкин
Keyword(s):  
Frontotemporal Dementia ◽  
Clinical Phenotypes ◽  
Mapt Gene ◽  
First Time

Впервые в российской популяции на когорте пациентов с клиническим диагнозом ЛВД исследована частота встречаемости мутаций в наиболее частых генах, ассоциированных с данным заболеванием. Наибольшая часто мутирующими являются гены C9orf72 и GRN. Реже всего встречаются мутации в гене MAPT, что возможно связано с неравномерным представительством клинических фенотипов в нашей выборке. For the first time in the Russian cohort of FTD patients the frequency of mutations in the most common genes associated with this disease was studied. The most frequently mutating are the genes C9orf72 and GRN. Mutations in the MAPT gene are least likely to occur, which is probably due to the uneven representation of clinical phenotypes in our sample.

Frontotemporal Dementia Phenotype Associated with MAPT Gene Duplication

2010 ◽  
Vol 21 (3) ◽  
pp. 897-902 ◽  
Author(s):  
Anne Rovelet-Lecrux ◽  
Didier Hannequin ◽  
Olivier Guillin ◽  
Solenn Legallic ◽  
Snejana Jurici ◽  
...  
Keyword(s):  
Gene Duplication ◽  
Frontotemporal Dementia ◽  
Mapt Gene

scholarly journals Two pathologically confirmed cases of novel mutations in the MAPT gene causing frontotemporal dementia

2020 ◽  
Vol 87 ◽  
pp. 141.e15-141.e20 ◽  
Author(s):  
Rachelle Shafei ◽  
Ione O.C. Woollacott ◽  
Catherine J. Mummery ◽  
Martina Bocchetta ◽  
Rita Guerreiro ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Novel Mutations ◽  
Mapt Gene

scholarly journals The Frequency of Genetic Mutations Associated With Behavioral Variant Frontotemporal Dementia in Chinese Han Patients

2021 ◽  
Vol 13 ◽  
Author(s):  
Li Liu ◽  
Bo Cui ◽  
Min Chu ◽  
Yue Cui ◽  
Donglai Jing ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Genetic Variants ◽  
Genetic Mutations ◽  
Chinese Han ◽  
Behavioral Variant Frontotemporal Dementia ◽  
Pathogenic Variants ◽  
Hexanucleotide Repeat ◽  
Mapt Gene ◽  
Repeat Expansions ◽  
Expansion Mutation

BackgroundBehavioral variant frontotemporal dementia (bvFTD) is a clinically heterogeneous syndrome with high heredity. However, the frequencies of mutations associated with bvFTD have yet to be determined. The aim of the current study was to investigate the frequency of Chinese Han patients harboring genetic bvFTD variants.MethodsA total of 49 bvFTD patients selected from our frontotemporal lobar degeneration database, including 14 familial cases belonging to eight families and 35 sporadic cases were consecutively recruited from July 2014 to December 2019 at Xuanwu Hospital (Beijing, China). Whole-exome sequencing (WES) was performed and repeat-primed PCR was used to test samples for the C9orf72 hexanucleotide repeat expansion mutation. The frequency of genetic variants and the pathogenicity of the novel variants were analyzed.ResultsTen pathogenic or likely pathogenic variants were identified in 17 bvFTD patients, including C9orf72 repeat expansions, six previously reported mutations and three novel mutations (MAPT p. R5C, p. D54N, GRN p. P451L). Genetic mutations accounted for 27.9% (12/43) of total cases, 87.5% (7/8) of patients with familial bvFTD, and 14.3% (5/35) with sporadic bvFTD. Pathogenic variants mostly occurred in MAPT gene (20.9%, 9/43), followed by C9orf72 repeat expansions (2.3%, 1/43), GRN gene (2.3%, 1/43) and FUS gene (2.3%, 1/43).ConclusionThere was a high prevalence of genetic variants in Chinese bvFTD patients, highlighting the necessity of genetic testing for bvFTD.

Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations

2014 ◽  
Vol 262 (2) ◽  
pp. 375-384 ◽  
Author(s):  
Gianluca Floris ◽  
Giuseppe Borghero ◽  
Antonino Cannas ◽  
Francesca Di Stefano ◽  
Maria R. Murru ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Radiological Findings ◽  
Clinical Phenotypes

Promising therapies for the treatment of frontotemporal dementia clinical phenotypes: from symptomatic to disease-modifying drugs

2019 ◽  
Vol 20 (9) ◽  
pp. 1091-1107 ◽  
Author(s):  
Giancarlo Logroscino ◽  
Bruno P. Imbimbo ◽  
Madia Lozupone ◽  
Rodolfo Sardone ◽  
Rosa Capozzo ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Disease Modifying Drugs ◽  
Clinical Phenotypes ◽  
Disease Modifying

Mechanisms of I Ks suppression in LQT1 mutants

2000 ◽  
Vol 279 (6) ◽  
pp. H3003-H3011 ◽  
Author(s):  
Laura Bianchi ◽  
Silvia G. Priori ◽  
Carlo Napolitano ◽  
Krystyna A. Surewicz ◽  
Adrienne T. Dennis ◽  
...  
Keyword(s):  
Cell Surface ◽  
Dominant Negative ◽  
Delayed Rectifier ◽  
Poor Correlation ◽  
Type I ◽  
Missense Mutations ◽  
Wild Type ◽  
Negative Effects ◽  
Clinical Phenotypes ◽  
First Time

Mutations in the cardiac potassium ion channel gene KCNQ1 (voltage-gated K+ channel subtype KvLQT1) cause LQT1, the most common type of hereditary long Q-T syndrome. KvLQT1 mutations prolong Q-T by reducing the repolarizing cardiac current [slow delayed rectifier K+ current ( I Ks )], but, for reasons that are not well understood, the clinical phenotypes may vary considerably even for carriers of the same mutation, perhaps explaining the mode of inheritance. At present, only currents expressed by LQT1 mutants have been studied, and it is unknown whether abnormal subunits are transported to the cell surface. Here, we have examined for the first time trafficking of KvLQT1 mutations and correlated the results with the I Ks currents that were expressed. Two missense mutations, S225L and A300T, produced abnormal currents, and two others, Y281C and Y315C, produced no currents. However, all four KvLQT1 mutations were detected at the cell surface. S225L, Y281C, and Y315C produced dominant negative effects on wild-type I Ks current, whereas the mutant with the mildest dysfunction, A300T, did not. We examined trafficking of a severe insertion deletion mutant Δ544 and detected this protein at the cell surface as well. We compared the cellular and clinical phenotypes and found a poor correlation for the severely dysfunctional mutations.

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