Early Onset Behavioral Variant Frontotemporal Dementia due to the C9ORF72 Hexanucleotide Repeat Expansion: Psychiatric Clinical Presentations

被引：49

作者：

Arighi, Andrea ^{[1
]}

Fumagalli, Giorgio G. ^{[1
]}

Jacini, Francesca ^{[1
]}

Fenoglio, Chiara ^{[1
]}

Ghezzi, Laura ^{[1
]}

Pietroboni, Anna M. ^{[1
]}

De Riz, Milena ^{[1
]}

Serpente, Maria ^{[1
]}

Ridolfi, Elisa ^{[1
]}

Bonsi, Rossana ^{[1
]}

Bresolin, Nereo ^{[1
]}

Scarpini, Elio ^{[1
]}

Galimberti, Daniela ^{[1
]}

机构：

[1] Univ Milan, IRCCS Osped Policlin, Fdn Ca Granda, Dept Neurol Sci,Dino Ferrari Ctr, Milan, Italy

来源：

JOURNAL OF ALZHEIMERS DISEASE | 2012年 / 31卷 / 02期

关键词：

C9ORF72 hexanucleotide repeat expansion; delirium; dementia; frontotemporal lobar degeneration; psychosis; AMYOTROPHIC-LATERAL-SCLEROSIS; PROGRANULIN MUTATIONS; CEREBROSPINAL-FLUID; LOBAR DEGENERATION; ALZHEIMERS-DISEASE; FEATURES; COHORT; FTD; ALS;

D O I：

10.3233/JAD-2012-120523

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

A hexanucleotide repeat expansion in the first intron of C9ORF72 has been shown to be responsible for a high number of familial cases of amyotrophic lateral sclerosis or frontotemporal lobar degeneration with or without concomitant motor neuron disease phenotype and TDP-43 based pathology. Here, we report on three cases carrying the hexanucleotide repeat expansion with an atypical presentation consisting in the development of psychiatric symptoms. Patient #1, a 53 year old man with positive family history for dementia, presented with mood deflection, characterized by apathy, social withdraw, and irritability in the last two years. He was diagnosed with "mild cognitive impairment due to depressive syndrome" six months later and subsequently with Alzheimer's disease. Patient #2, a woman with positive family history for dementia, developed behavioral disturbances, aggressiveness, and swearing at 57 years of age. Patient #3 presented, in the absence of brain atrophy, with mystical delirium with auditory hallucinations at 44 years of age, and did not present neurological symptoms over a 7-year follow up. The description of these cases underlines that the hexanucleotide repeat expansion in chromosome 9 could be associated with early onset psychiatric presentations.

引用

页码：447 / 452

页数：6

共 19 条

[11] A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study [J].

Gijselinck, Ilse ;

Van Langenhove, Tim ;

van der Zee, Julie ;

Sleegers, Kristel ;

Philtjens, Stephanie ;

Kleinberger, Gernot ;

Janssens, Jonathan ;

Bettens, Karolien ;

Van Cauwenberghe, Caroline ;

Pereson, Sandra ;

Engelborghs, Sebastiaan ;

Sieben, Anne ;

De Jonghe, Peter ;

Vandenberghe, Rik ;

Santens, Patrick ;

De Bleecker, Jan ;

Maes, Githa ;

Baumer, Veerle ;

Dillen, Lubina ;

Joris, Geert ;

Cuijt, Ivy ;

Corsmit, Ellen ;

Elinck, Ellen ;

Van Dongen, Jasper ;

Vermeulen, Steven ;

Van den Broeck, Marleen ;

Vaerenberg, Carolien ;

Mattheijssens, Maria ;

Peeters, Karin ;

Robberecht, Wim ;

Cras, Patrick ;

Martin, Jean-Jacques ;

De Deyn, Peter P. ;

Cruts, Marc ;

Van Broeckhoven, Christine .

LANCET NEUROLOGY, 2012, 11 (01) :54-65

[12] Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p [J].

Hsiung, Ging-Yuek R. ;

DeJesus-Hernandez, Mariely ;

Feldman, Howard H. ;

Sengdy, Pheth ;

Bouchard-Kerr, Phoenix ;

Dwosh, Emily ;

Butler, Rachel ;

Leung, Bonnie ;

Fok, Alice ;

Rutherford, Nicola J. ;

Baker, Matt ;

Rademakers, Rosa ;

Mackenzie, Ian R. A. .

BRAIN, 2012, 135 :709-722

[13] Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features [J].

Mahoney, Colin J. ;

Beck, Jon ;

Rohrer, Jonathan D. ;

Lashley, Tammaryn ;

Mok, Kin ;

Shakespeare, Tim ;

Yeatman, Tom ;

Warrington, Elizabeth K. ;

Schott, Jonathan M. ;

Fox, Nick C. ;

Rossor, Martin N. ;

Hardy, John ;

Collinge, John ;

Revesz, Tamas ;

Mead, Simon ;

Warren, Jason D. .

BRAIN, 2012, 135 :736-750

[14] Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study [J].

Majounie, Elisa ;

Renton, Alan E. ;

Mok, Kin ;

Dopper, Elise G. P. ;

Waite, Adrian ;

Rollinson, Sara ;

Chio, Adrian ;

Restagno, Gabriella ;

Nicolaou, Nayia ;

Simon-Sanchez, Javier ;

van Swieten, John C. ;

Abramzon, Yevgeniya ;

Johnson, Janel O. ;

Sendtner, Michael ;

Pamphlett, Roger ;

Orrell, Richard W. ;

Mead, Simon ;

Sidle, Katie C. ;

Houlden, Henry ;

Rohrer, Jonathan D. ;

Morrison, Karen E. ;

Pall, Hardev ;

Talbot, Kevin ;

Ansorge, Olaf ;

Hernandez, Dena G. ;

Arepalli, Sampath ;

Sabatelli, Mario ;

Mora, Gabriele ;

Corbo, Massimo ;

Giannini, Fabio ;

Calvo, Andrea ;

Englund, Elisabet ;

Borghero, Giuseppe ;

Foris, Gian Luca ;

Remes, Anne M. ;

Laaksovirta, Hannu ;

McCluskey, Leo ;

Trojanowski, John Q. ;

Van Deerlin, Vivianna M. ;

Schellenberg, Gerard D. ;

Nalls, Michael A. ;

Drory, Vivian E. ;

Lu, Chin-Song ;

Yeh, Tu-Hsueh ;

Ishiura, Hiroyuki ;

Takahashi, Yuji ;

Tsuji, Shoji ;

Le Ber, Isabelle ;

Brice, Alexis ;

Drepper, Carsten .

LANCET NEUROLOGY, 2012, 11 (04) :323-330

[15] Repeat Expansion in C9ORF72 in Alzheimer's Disease [J].

Majounie, Elisa ;

Abramzon, Yevgeniya ;

Renton, Alan E. ;

Perry, Rodney ;

Bassett, Susan S. ;

Pletnikova, Olga ;

Troncoso, Juan C. ;

Hardy, John ;

Singleton, Andrew B. ;

Traynor, Bryan J. .

NEW ENGLAND JOURNAL OF MEDICINE, 2012, 366 (03) :283-284

[16] A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD [J].

Renton, Alan E. ;

Majounie, Elisa ;

Waite, Adrian ;

Simon-Sanchez, Javier ;

Rollinson, Sara ;

Gibbs, J. Raphael ;

Schymick, Jennifer C. ;

Laaksovirta, Hannu ;

van Swieten, John C. ;

Myllykangas, Liisa ;

Kalimo, Hannu ;

Paetau, Anders ;

Abramzon, Yevgeniya ;

Remes, Anne M. ;

Kaganovich, Alice ;

Scholz, Sonja W. ;

Duckworth, Jamie ;

Ding, Jinhui ;

Harmer, Daniel W. ;

Hernandez, Dena G. ;

Johnson, Janel O. ;

Mok, Kin ;

Ryten, Mina ;

Trabzuni, Danyah ;

Guerreiro, Rita J. ;

Orrell, Richard W. ;

Neal, James ;

Murray, Alex ;

Pearson, Justin ;

Jansen, Iris E. ;

Sondervan, David ;

Seelaar, Harro ;

Blake, Derek ;

Young, Kate ;

Halliwell, Nicola ;

Callister, Janis Bennion ;

Toulson, Greg ;

Richardson, Anna ;

Gerhard, Alex ;

Snowden, Julie ;

Mann, David ;

Neary, David ;

Nalls, Michael A. ;

Peuralinna, Terhi ;

Jansson, Lilja ;

Isoviita, Veli-Matti ;

Kaivorinne, Anna-Lotta ;

Holtta-Vuori, Maarit ;

Ikonen, Elina ;

Sulkava, Raimo .

NEURON, 2011, 72 (02) :257-268

[17] The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions [J].

Simon-Sanchez, Javier ;

Dopper, Elise G. P. ;

Cohn-Hokke, Petra E. ;

Hukema, Renate K. ;

Nicolaou, Nayia ;

Seelaar, Harro ;

de Graaf, J. Roos A. ;

de Koning, Inge ;

van Schoor, Natasja M. ;

Deeg, Dorly J. H. ;

Smits, Marion ;

Raaphorst, Joost ;

van den Berg, Leonard H. ;

Schelhaas, Helenius J. ;

De Die-Smulders, Christine E. M. ;

Majoor-Krakauer, Danielle ;

Rozemuller, Annemieke J. M. ;

Willemsen, Rob ;

Pijnenburg, Yolande A. L. ;

Heutink, Peter ;

van Swieten, John C. .

BRAIN, 2012, 135 :723-735

[18]

Sjögren M, 2001, CLIN CHEM, V47, P1776

[19] 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

← 1 2 →