A case of familial frontotemporal dementia caused by a progranulin gene mutation

被引：0

作者：

Currens, Lauryn ^{[1
,6
]}

Harrison, Nigel ^{[2
]}

Schmidt, Maria ^{[2
]}

Amjad, Halima ^{[3
]}

Mu, Weiyi ^{[4
]}

Scholz, Sonja W. ^{[2
,5
]}

Bang, Jee ^{[2
]}

Pantelyat, Alexander ^{[2
]}

机构：

[1] Univ Massachusetts, Chan Med Sch, Dept Neurol, 55 N Lake Ave, Worcester, MA 01655 USA

[2] Johns Hopkins Univ, Dept Neurol, Sch Med, 600 North Wolfe St, Baltimore, MD 21287 USA

[3] Johns Hopkins Univ, Dept Med, Div Geriatr Med & Gerontol, Sch Med, 5200 Eastern Ave, Baltimore, MD 21224 USA

[4] Johns Hopkins Univ, Dept Genet Med, Sch Med, 600 North Wolfe St, Baltimore, MD 21287 USA

[5] Natl Inst Neurol Disorders & Stroke, Neurodegenerat Dis Res Unit, Bethesda, MD 20892 USA

[6] Johns Hopkins Univ, Dept Neurol, Sch Med, Baltimore, MD 21218 USA

来源：

CLINICAL PARKINSONISM & RELATED DISORDERS | 2023年 / 9卷

基金：

美国国家卫生研究院;

关键词：

Frontotemporal dementia; FTD; Progranulin; GRN; Phenotypic heterogeneity; TAU;

D O I：

10.1016/j.prdoa.2023.100213

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

After Alzheimer's disease, Frontotemporal dementia (FTD) is the most common cause of early-onset dementia. Several genetic mutations have been identified in familial FTD, with mutations in progranulin (GRN) accounting for approximately 20-25% of familial FTD cases and about 10% of total FTD cases. We report the case of a familial FTD patient with atypical parkinsonism who was found to have GRN frontotemporal dementia (GRNFTD) with a pathogenic splice site mutation (c.709-2A > G) and notable phenotypic heterogeneity among family members.

引用

页数：4

共 50 条

[1] Familial Frontotemporal Dementia with Parkinsonism Associated with a Novel Mutation in Progranulin
Owens, Emily
Boeve, Bradley
McDade, Eric
Lowe, Val
Jack, Clifford
Baker, Matt
Rademakers, Rosa
Parisi, Joseph
Dickson, Dennis
DEMENTIA AND GERIATRIC COGNITIVE DISORDERS, 2012, 33 : 213 - 214
[2] Heterosexual Pedophilia in a Frontotemporal Dementia Patient with a Mutation in the Progranulin Gene
Rainero, Innocenzo
Rubino, Elisa
Negro, Elisa
Gallone, Salvatore
Galimberti, Daniela
Gentile, Salvatore
Scarpini, Elio
Pinessi, Lorenzo
BIOLOGICAL PSYCHIATRY, 2011, 70 (09) : E43 - E44
[3] Amusia as an early manifestation of frontotemporal dementia caused by a novel progranulin mutation
Barquero, Sagrario
Gomez-Tortosa, Estrella
Baron, Manuel
Rabano, Alberto
Munoz, David G.
Jimenez-Escrig, Adriano
JOURNAL OF NEUROLOGY, 2010, 257 (03) : 475 - 477
[4] Amusia as an early manifestation of frontotemporal dementia caused by a novel progranulin mutation
Sagrario Barquero
Estrella Gomez-Tortosa
Manuel Baron
Alberto Rabano
David G. Munoz
Adriano Jimenez-Escrig
Journal of Neurology, 2010, 257 : 475 - 477
[5] Frontotemporal dementia in a large Swedish family is caused by a progranulin null mutation
Skoglund, Lena
Brundin, RoseMarie
Olofsson, Tommie
Kalimo, Hannu
Ingvast, Sofie
Blom, Elin S.
Giedraitis, Vilmantas
Ingelsson, Martin
Lannfelt, Lars
Basun, Hans
Glaser, Anna
NEUROGENETICS, 2009, 10 (01) : 27 - 34
[6] Frontotemporal dementia in a large Swedish family is caused by a progranulin null mutation
Lena Skoglund
RoseMarie Brundin
Tommie Olofsson
Hannu Kalimo
Sofie Ingvast
Elin S. Blom
Vilmantas Giedraitis
Martin Ingelsson
Lars Lannfelt
Hans Basun
Anna Glaser
neurogenetics, 2009, 10 : 27 - 34
[7] Late onset bipolar disorder and frontotemporal dementia with mutation in progranulin gene: a case report
Rubino, Elisa
Vacca, Alessandro
Gallone, Salvatore
Govone, Flora
Zucca, Milena
Gai, Annalisa
Ferrero, Patrizia
Fenoglio, Pierpaola
Giordana, Maria Teresa
Rainero, Innocenzo
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, 2017, 18 (7-8) : 624 - 626
[8] Characteristics of frontotemporal dementia patients with a progranulin mutation
Huey, Edward D.
Grafman, Jordan
Wassermann, Eric M.
Pietrini, Pietro
Tierney, Michael C.
Ghetti, Bernardino
Spina, Salvatore
Baker, Matt
Hutton, Mike
Elder, Joshua W.
Berger, Stephen L.
Heflin, Kyle A.
Hardy, John
Momeni, Parastoo
ANNALS OF NEUROLOGY, 2006, 60 (03) : 374 - 380
[9] Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin gene
Rohrer, Jonathan D.
Warren, Jason D.
Omar, Rohani
Mead, Simon
Beck, Jonathan
Revesz, Tamas
Holton, Janice
Stevens, John M.
Al-Sarraj, Safa
Pickering-Brown, Stuart M.
Hardy, John
Fox, Nick C.
Collinge, John
Warrington, Elizabeth K.
Rossor, Martin N.
ARCHIVES OF NEUROLOGY, 2008, 65 (04) : 506 - 513
[10] Familial frontotemporal dementia - ALS syndrome by TARDBP gene mutation
Olabarrieta, M.
Pujadas, F.
Palasi, A.
Turon, A.
Antonell, A.
Gelpi, E.
Sanchez-Valle, R.
JOURNAL OF NEUROCHEMISTRY, 2016, 138 : 315 - 315

← 1 2 3 4 5 →