MAPT p.V363I mutation A rare cause of corticobasal degeneration

被引：15

作者：

Ahmed, Sarah ^{[1
]}

Fairen, Monica Diez ^{[2
,3
,4
]}

Sabir, Marya S. ^{[1
]}

Pastor, Pau ^{[2
,3
,4
]}

Ding, Jinhui ^{[5
]}

Ispierto, Lourdes ^{[6
]}

Butala, Ankur ^{[7
]}

Morris, Christopher M. ^{[8
]}

Schulte, Claudia ^{[9
,10
]}

Gasser, Thomas ^{[9
,10
]}

Jabbari, Edwin ^{[11
]}

Pletnikova, Olga ^{[12
]}

Morris, Huw R. ^{[11
,13
]}

Troncoso, Juan ^{[12
]}

Gelpi, Ellen ^{[14
,15
]}

Pantelyat, Alexander ^{[7
]}

Scholz, Sonja W. ^{[1
,7
]}

机构：

[1] NINDS, Neurodegenerat Dis Res Unit, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA

[2] Univ Hosp Mutua Terrassa, Movement Disorders & Memory Unit, Barcelona, Spain

[3] Univ Hosp Mutua Terrassa, Dept Neurol, Barcelona, Spain

[4] Fundacio Recerca Biomed & Social Mutua Terrassa, Barcelona, Spain

[5] NIA, Lab Neurogenet, NIH, Bethesda, MD 20892 USA

[6] Hosp Univ Germans Trias, Neurol Serv, Badalona, Spain

[7] Johns Hopkins Univ, Med Ctr, Dept Neurol, Baltimore, MD 21218 USA

[8] Newcastle Univ, Newcastle Inst Ageing, Campus Ageing & Vital, Newcastle Upon Tyne, Tyne & Wear, England

[9] Univ Tubingen, Hertie Inst Clin Brain Res, Ctr Neurol, Dept Neurodegenerat Dis, Tubingen, Germany

[10] German Ctr Neurodegenerat Dis, Tubingen, Germany

[11] UCL, Inst Neurol, Dept Mol & Clin Neurosci, London, England

[12] Johns Hopkins Univ, Med Ctr, Dept Pathol Neuropathol, Baltimore, MD 21218 USA

[13] Inst Neurol, Dept Clin Neurosci, Royal Free Campus UCL, London, England

[14] Univ Barcelona, IDIBAPS, Hosp Clin, Neurol Tissue Bank, Barcelona, Spain

[15] Med Univ Vienna, Inst Neurol, Vienna, Austria

来源：

NEUROLOGY-GENETICS | 2019年 / 5卷 / 04期

关键词：

TAU GENE; FREQUENCY; MISSENSE;

D O I：

10.1212/NXG.0000000000000347

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Objective Patients with corticobasal syndrome (CBS) present with heterogeneous clinical features, including asymmetric parkinsonism, dyspraxia, aphasia, and cognitive impairment; to better understand the genetic etiology of this rare disease, we undertook a genetic analysis of microtubule-associated protein tau (MAPT). Methods We performed a genetic evaluation of MAPT mutations in 826 neurologically healthy controls and 173 cases with CBS using the Illumina NeuroChip genotyping array. Results We identified 2 patients with CBS heterozygous for a rare mutation in MAPT (p.V363I) that is located in the highly conserved microtubule-binding domain. One patient was pathologically confirmed and demonstrated extensive 4-repeat-tau-positive thread pathology, achromatic neurons, and astrocytic plaques consistent with corticobasal degeneration (CBD). Conclusions We report 2 CBS cases carrying the rare p.V363I MAPT mutation, one of which was pathologically confirmed as CBD. Our findings support the notion that this rare coding change is pathogenic.

引用

页数：8

共 26 条

[1] A method and server for predicting damaging missense mutations [J].

Adzhubei, Ivan A. ;

Schmidt, Steffen ;

Peshkin, Leonid ;

Ramensky, Vasily E. ;

Gerasimova, Anna ;

Bork, Peer ;

Kondrashov, Alexey S. ;

Sunyaev, Shamil R. .

NATURE METHODS, 2010, 7 (04) :248-249

[2] ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants [J].

Alirezaie, Najmeh ;

Kernohan, Kristin D. ;

Hartley, Taila ;

Majewski, Jacek ;

Hocking, Toby Dylan .

AMERICAN JOURNAL OF HUMAN GENETICS, 2018, 103 (04) :474-483

[3] MAPT V363I Variation in a Sporadic Case of Frontotemporal Dementia Variable Penetrant Mutation or Rare Polymorphism? [J].

Anfossi, Maria ;

Bernardi, Livia ;

Gallo, Maura ;

Geracitano, Silvana ;

Colao, Rosanna ;

Puccio, Gianfranco ;

Curcio, Sabrina A. M. ;

Frangipane, Francesca ;

Mirabelli, Maria ;

Tomaino, Carmine ;

Smirne, Nicoletta ;

Maletta, Raffaele ;

Bruni, Amalia Cecilia .

ALZHEIMER DISEASE & ASSOCIATED DISORDERS, 2011, 25 (01) :96-99

[4] Criteria for the diagnosis of corticobasal degeneration [J].

Armstrong, Melissa J. ;

Litvan, Irene ;

Lang, Anthony E. ;

Bak, Thomas H. ;

Bhatia, Kailash P. ;

Borroni, Barbara ;

Boxer, Adam L. ;

Dickson, Dennis W. ;

Grossman, Murray ;

Hallett, Mark ;

Josephs, Keith A. ;

Kertesz, Andrew ;

Lee, Suzee E. ;

Miller, Bruce L. ;

Reich, Stephen G. ;

Riley, David E. ;

Tolosa, Eduardo ;

Troester, Alexander I. ;

Vidailhet, Marie ;

Weiner, William J. .

NEUROLOGY, 2013, 80 (05) :496-503

[5] Semantic dementia associated with mutation V363I in the tau gene [J].

Bessi, Valentina ;

Bagnoli, Silvia ;

Nacmias, Benedetta ;

Tedde, Andrea ;

Sorbi, Sandro ;

Bracco, Laura .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2010, 296 (1-2) :112-114

[6] NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases [J].

Blauwendraat, Cornelis ;

Faghri, Faraz ;

Pihlstrom, Lasse ;

Geiger, Joshua T. ;

Elbaz, Alexis ;

Lesage, Suzanne ;

Corvol, Jean-Christophe ;

May, Patrick ;

Nicolas, Aude ;

Abramzon, Yevgeniya ;

Murphy, Natalie A. ;

Gibbs, J. Raphael ;

Ryten, Mina ;

Ferrari, Raffaele ;

Bras, Jose ;

Guerreiro, Rita ;

Williams, Julie ;

Sims, Rebecca ;

Lubbe, Steven ;

Hernandez, Dena G. ;

Mok, Kin Y. ;

Robak, Laurie ;

Campbell, Roy H. ;

Rogaeva, Ekaterina ;

Traynor, Bryan J. ;

Chia, Ruth ;

Chung, Sun Ju ;

Hardy, John A. ;

Brice, Alexis ;

Wood, NicholasW. ;

Houlden, Henry ;

Shulman, Joshua M. ;

Morris, Huw R. ;

Gasser, Thomas ;

Krueger, Rejko ;

Heutink, Peter ;

Sharma, Manu ;

Simon-Sanchez, Javier ;

Nalls, Mike A. ;

Singleton, Andrew B. ;

Scholz, SonjaW. .

NEUROBIOLOGY OF AGING, 2017, 57 :247.e9-247.e13

[7] Cryo-EM structures of tau filaments from Alzheimer's disease [J].

Fitzpatrick, Anthony W. P. ;

Falcon, Benjamin ;

He, Shaoda ;

Murzin, Alexey G. ;

Murshudov, Garib ;

Garringer, Holly J. ;

Crowther, R. Anthony ;

Ghetti, Bernardino ;

Goedert, Michel ;

Scheres, Sjors H. W. .

NATURE, 2017, 547 (7662) :185-+

[8] Frontotemporal dementia caused by microtubule-associated protein tau gene (MAPT) mutations: a chameleon for neuropathology and neuroimaging [J].

Ghetti, B. ;

Oblak, A. L. ;

Boeve, B. F. ;

Johnson, K. A. ;

Dickerson, B. C. ;

Goedert, M. .

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2015, 41 (01) :24-46

[9] Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17 [J].

Hutton, M ;

Lendon, CL ;

Rizzu, P ;

Baker, M ;

Froelich, S ;

Houlden, H ;

Pickering-Brown, S ;

Chakraverty, S ;

Isaacs, A ;

Grover, A ;

Hackett, J ;

Adamson, J ;

Lincoln, S ;

Dickson, D ;

Davies, P ;

Petersen, RC ;

Stevens, M ;

de Graaff, E ;

Wauters, E ;

van Baren, J ;

Hillebrand, M ;

Joosse, M ;

Kwon, JM ;

Nowotny, P ;

Che, LK ;

Norton, J ;

Morris, JC ;

Reed, LA ;

Trojanowski, J ;

Basun, H ;

Lannfelt, L ;

Neystat, M ;

Fahn, S ;

Dark, F ;

Tannenberg, T ;

Dodd, PR ;

Hayward, N ;

Kwok, JBJ ;

Schofield, PR ;

Andreadis, A ;

Snowden, J ;

Craufurd, D ;

Neary, D ;

Owen, F ;

Oostra, BA ;

Hardy, J ;

Goate, A ;

van Swieten, J ;

Mann, D ;

Lynch, T .

NATURE, 1998, 393 (6686) :702-705

[10] Tauopathies as clinicopathological entities [J].

Irwin, David J. .

PARKINSONISM & RELATED DISORDERS, 2016, 22 :S29-S33

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