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

被引：1
|
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
收藏
页数：4
相关论文
共 50 条
  • [21] Preclinical Interventions in Mouse Models of Frontotemporal Dementia Due to Progranulin Mutations
    Kashyap, Shreya N.
    Boyle, Nicholas R.
    Roberson, Erik D.
    NEUROTHERAPEUTICS, 2023, 20 (01) : 140 - 153
  • [22] Novel TARDBP missense mutation caused familial amyotrophic lateral sclerosis with frontotemporal dementia and parkinsonism
    Chen, Sheng
    Zhou, Rui-Ling
    Zhang, Wei
    Che, Chun-Hui
    Feng, Shu-Yan
    Huang, Hua-Pin
    Liu, Chang-Yun
    Zou, Zhang-Yu
    NEUROBIOLOGY OF AGING, 2021, 107 : 168 - 173
  • [23] Inflammatory molecules in Frontotemporal Dementia: Cerebrospinal fluid signature of progranulin mutation carriers
    Galimberti, D.
    Bonsi, R.
    Fenoglio, C.
    Serpente, M.
    Cioffi, S. M. G.
    Fumagalli, G.
    Arighi, A.
    Ghezzi, L.
    Arcaro, M.
    Mercurio, M.
    Rotondo, E.
    Scarpini, E.
    BRAIN BEHAVIOR AND IMMUNITY, 2015, 49 : 182 - 187
  • [24] Frequency of progranulin mutations in a German cohort of 79 frontotemporal dementia patients
    Schlachetzki, Johannes Carolus Magnus
    Schmidtke, Klaus
    Beckervordersandforth, Jan
    Borozdin, Wiktor
    Wilhelm, Christian
    Huell, Michael
    Kohlhase, Juergen
    JOURNAL OF NEUROLOGY, 2009, 256 (12) : 2043 - 2051
  • [25] Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia
    Snowden, J. S.
    Pickering-Brown, S. M.
    Mackenzie, I. R.
    Richardson, A. M. T.
    Varma, A.
    Neary, D.
    Mann, D. M. A.
    BRAIN, 2006, 129 : 3091 - 3102
  • [26] Manic behavior and asymmetric right frontotemporal dementia from a novel progranulin mutation
    Mendez, Mario F.
    NEUROPSYCHIATRIC DISEASE AND TREATMENT, 2018, 14 : 657 - 662
  • [27] Loss of exosomes in progranulin-associated frontotemporal dementia
    Benussi, Luisa
    Ciani, Miriam
    Tonoli, Elisa
    Morbin, Michela
    Palamara, Luisa
    Albani, Diego
    Fusco, Federica
    Forloni, Gianluigi
    Glionna, Michela
    Baco, Monika
    Paterlini, Anna
    Fostinelli, Silvia
    Santini, Benedetta
    Galbiati, Elisabetta
    Gagni, Paola
    Cretich, Marina
    Binetti, Giuliano
    Tagliavini, Fabrizio
    Prosperi, Davide
    Chiari, Marcella
    Ghidoni, Roberta
    NEUROBIOLOGY OF AGING, 2016, 40 : 41 - 49
  • [28] TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations
    Seelaar, Harro
    Schelhaas, H. Jurgen
    Azmani, Asma
    Kusters, Benno
    Rosso, Sonia
    Majoor-Krakauer, Danielle
    de Rijk, Maarten C.
    Rizzu, Patrizia
    ten Brummelhuis, Ming
    van Doorn, Pieter A.
    Kamphorst, Wouter
    Willemsen, Rob
    van Swieten, John C.
    BRAIN, 2007, 130 : 1375 - 1385
  • [29] Novel G335V mutation in the tau gene associated with early onset familial frontotemporal dementia
    Manuela Neumann
    Silvia Diekmann
    Uwe Bertsch
    Ben Vanmassenhove
    Bernhard Bogerts
    Hans A. Kretzschmar
    Neurogenetics, 2005, 6 : 91 - 95
  • [30] Novel G335V mutation in the tau gene associated with early onset familial frontotemporal dementia
    Neumann, M
    Diekmann, S
    Bertsch, U
    Vanmassenhove, B
    Bogerts, B
    Kretzschmar, HA
    NEUROGENETICS, 2005, 6 (02) : 91 - 95
12345