Frontotemporal Dementia in a Brazilian Kindred With the C9orf72 Mutation

被引：29

作者：

Takada, Leonel T. ^{[1
]}

Pimentel, Maria Lucia V. ^{[3
,4
]}

DeJesus-Hernandez, Mariely ^{[5
]}

Fong, Jamie C. ^{[1
]}

Yokoyama, Jennifer S. ^{[1
]}

Karydas, Anna ^{[1
]}

Thibodeau, Marie-Pierre ^{[6
]}

Rutherford, Nicola J. ^{[5
]}

Baker, Matthew C. ^{[5
]}

Lomen-Hoerth, Catherine ^{[2
]}

Rademakers, Rosa ^{[5
]}

Miller, Bruce L. ^{[1
]}

机构：

[1] Univ Calif San Francisco, Memory & Aging Ctr, San Francisco, CA 94143 USA

[2] Univ Calif San Francisco, ALS Ctr, San Francisco, CA 94143 USA

[3] Pontif Catholic Univ, Rio De Janeiro, Brazil

[4] Univ Gama Filho, Rio De Janeiro, Brazil

[5] Mayo Clin, Dept Neurosci, Jacksonville, FL 32224 USA

[6] Univ Montreal, Hop Notre Dame, Ctr Hosp Univ Montreal, Montreal, PQ, Canada

来源：

ARCHIVES OF NEUROLOGY | 2012年 / 69卷 / 09期

基金：

美国国家卫生研究院;

关键词：

MOTOR-NEURON DISEASE; AMYOTROPHIC-LATERAL-SCLEROSIS; HEXANUCLEOTIDE REPEAT; ALS; NEURODEGENERATION; FTD;

D O I：

10.1001/archneurol.2012.650

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Objectives: To describe the clinical features of a Brazilian kindred with C9orf72 frontotemporal dementia-amyotrophic lateral sclerosis and compare them with other described families with C9orf72 and frontotemporal dementia-amyotrophic lateral sclerosis-causing mutations. Design: Report of a kindred. Setting: Dementia center at a university hospital. Patients: One kindred encompassing 3 generations. Results: The presence of a hexanucleotide (GGGGCC) expansion in C9orf72 was confirmed by repeat-primed polymerase chain reaction and Southern blot. The observed phenotypes were behavioral variant frontotemporal dementia and amyotrophic lateral sclerosis with dementia, with significant variability in age at onset and duration of disease. Parkinsonian features with focal dystonia, visual hallucinations, and more posterior atrophy on neuroimaging than is typical for frontotemporal dementia were seen. Conclusions: Behavioral variant frontotemporal dementia due to C9orf72 expansion displays some phenotypic heterogeneity and may be associated with hallucinations, parkinsonism, focal dystonia, and posterior brain atrophy. Personality changes may precede the diagnosis of dementia by many years and may be a distinguishing feature of this mutation. Arch Neurol. 2012; 69(9): 1149-1153. Published online May 14, 2012. doi:10.1001/archneurol.2012.650

引用

页码：1149 / 1153

页数：5

共 50 条

[31] Disease progression in C9orf72 mutation carriers [J].

Floeter, Mary K. ;

Traynor, Bryan J. ;

Farren, Jennifer ;

Braun, Laura E. ;

Tierney, Michael ;

Wiggs, Edythe A. ;

Wu, Tianxia .

NEUROLOGY, 2017, 89 (03) :234-241

[32] A familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma [J].

Ferrari, Raffaele ;

Kero, Mia ;

Mok, Kin ;

Paetau, Anders ;

Tienari, Pentti J. ;

Tynninen, Olli ;

Hardy, John ;

Momeni, Parastoo ;

Verkkoniemi-Ahola, Auli ;

Myllykangas, Liisa .

NEUROBIOLOGY OF AGING, 2014, 35 (02) :444.e11-444.e14

[33] Role of the C9ORF72 Gene in the Pathogenesis of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia [J].

Hao, Zongbing ;

Wang, Rui ;

Ren, Haigang ;

Wang, Guanghui .

NEUROSCIENCE BULLETIN, 2020, 36 (09) :1057-1070

[34] Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations [J].

Snowden, Julie S. ;

Rollinson, Sara ;

Thompson, Jennifer C. ;

Harris, Jennifer M. ;

Stopford, Cheryl L. ;

Richardson, Anna M. T. ;

Jones, Matthew ;

Gerhard, Alex ;

Davidson, Yvonne S. ;

Robinson, Andrew ;

Gibbons, Linda ;

Hu, Quan ;

DuPlessis, Daniel ;

Neary, David ;

Mann, David M. A. ;

Pickering-Brown, Stuart M. .

BRAIN, 2012, 135 :693-708

[35] Neuroimmune dysfunction in frontotemporal dementia: Insights from progranulin and C9orf72 deficiency [J].

Hashimoto, Kei ;

Jahan, Naznin ;

Miller, Zachary A. ;

Huang, Eric J. .

CURRENT OPINION IN NEUROBIOLOGY, 2022, 76

[36] C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function? [J].

Mizielinska, Sarah ;

Isaacs, Adrian M. .

CURRENT OPINION IN NEUROLOGY, 2014, 27 (05) :515-523

[37] RANTing about C9orf72 [J].

Lashley, Tammaryn ;

Hardy, John ;

Isaacs, Adrian M. .

NEURON, 2013, 77 (04) :597-598

[38] Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration [J].

Mizielinska, Sarah ;

Ridler, Charlotte E. ;

Balendra, Rubika ;

Thoeng, Annora ;

Woodling, Nathan S. ;

Graesser, Friedrich A. ;

Plagnol, Vincent ;

Lashley, Tammaryn ;

Partridge, Linda ;

Isaacs, Adrian M. .

ACTA NEUROPATHOLOGICA COMMUNICATIONS, 2017, 5 :29

[39] C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers [J].

Rizzu, Patrizia ;

Blauwendraat, Cornelis ;

Heetveld, Sasja ;

Lynes, Emily M. ;

Castillo-Lizardo, Melissa ;

Dhingra, Ashutosh ;

Pyz, Elwira ;

Hobert, Markus ;

Synofzik, Matthis ;

Simon-Sanchez, Javier ;

Francescatto, Margherita ;

Heutink, Peter .

ACTA NEUROPATHOLOGICA COMMUNICATIONS, 2016, 4 :37

[40] Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72 [J].

Boeve, Bradley F. ;

Boylan, Kevin B. ;

Graff-Radford, Neill R. ;

DeJesus-Hernandez, Mariely ;

Knopman, David S. ;

Pedraza, Otto ;

Vemuri, Prashanthi ;

Jones, David ;

Lowe, Val ;

Murray, Melissa E. ;

Dickson, Dennis W. ;

Josephs, Keith A. ;

Rush, Beth K. ;

Machulda, Mary M. ;

Fields, Julie A. ;

Ferman, Tanis J. ;

Baker, Matthew ;

Rutherford, Nicola J. ;

Adamson, Jennifer ;

Wszolek, Zbigniew K. ;

Adeli, Anahita ;

Savica, Rodolfo ;

Boot, Brendon ;

Kuntz, Karen M. ;

Gavrilova, Ralitza ;

Reeves, Andrew ;

Whitwell, Jennifer ;

Kantarci, Kejal ;

Jack, Clifford R., Jr. ;

Parisi, Joseph E. ;

Lucas, John A. ;

Petersen, Ronald C. ;

Rademakers, Rosa .

BRAIN, 2012, 135 :765-783

← 1 2 3 4 5 →