Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype?

Zurück zum Zitat Mok K, Traynor B, Schymick J, Tienari PJ, Laaksovirta H, Peuralinna T, Myllykangas L, Chiò A, Shatunov A, Boeve BF, Boxer AL, Dejesus-Hernandez M, Mackenzie IR, Waite A, Williams N, Morris HR, Simón-Sánchez J, Van Swieten JC, Heutink P, Restagno G, Mora G, Morrison KE, Shaw PJ, Rollinson PS, Al-Chalabi A, Rademakers R, Pickering-Brown S, Orrell RW, Nalls MA, Hardy J (2011) The chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol of Aging (in press) Mok K, Traynor B, Schymick J, Tienari PJ, Laaksovirta H, Peuralinna T, Myllykangas L, Chiò A, Shatunov A, Boeve BF, Boxer AL, Dejesus-Hernandez M, Mackenzie IR, Waite A, Williams N, Morris HR, Simón-Sánchez J, Van Swieten JC, Heutink P, Restagno G, Mora G, Morrison KE, Shaw PJ, Rollinson PS, Al-Chalabi A, Rademakers R, Pickering-Brown S, Orrell RW, Nalls MA, Hardy J (2011) The chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol of Aging (in press)

Zurück zum Zitat Morita M, Al-Chalabi A, Andersen PM, Hosler B, Sapp P, Englund E, Mitchell JE, Habgood JJ, De Belleroche J, Xi J, Jongjaroenprasert W, Horvitz HR, Gunnarsson LG, Brown RH Jr (2006) A locus on chromosome 9 confers susceptibility to amyotrophic lateral sclerosis and frontotemporal dementia. Neurology 66:839–844PubMedCrossRef Morita M, Al-Chalabi A, Andersen PM, Hosler B, Sapp P, Englund E, Mitchell JE, Habgood JJ, De Belleroche J, Xi J, Jongjaroenprasert W, Horvitz HR, Gunnarsson LG, Brown RH Jr (2006) A locus on chromosome 9 confers susceptibility to amyotrophic lateral sclerosis and frontotemporal dementia. Neurology 66:839–844PubMedCrossRef

Zurück zum Zitat Vance C, Al-Chalabi A, Ruddy D, Smith BN, Hu X, Sreedharan J, Siddique T, Schelhaas HJ, Kusters B, Troost D, Baas F, De Jong V, Shaw CE (2006) Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. Brain 129:868–876PubMedCrossRef Vance C, Al-Chalabi A, Ruddy D, Smith BN, Hu X, Sreedharan J, Siddique T, Schelhaas HJ, Kusters B, Troost D, Baas F, De Jong V, Shaw CE (2006) Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. Brain 129:868–876PubMedCrossRef

Zurück zum Zitat DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford, NR, Rademakers R (2011) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-Linked FTD and ALS. Neuron (in press) DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford, NR, Rademakers R (2011) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-Linked FTD and ALS. Neuron (in press)

Zurück zum Zitat Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, Van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M; The ITALSGEN Consortium, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (in press) Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, Van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M; The ITALSGEN Consortium, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (in press)

Zurück zum Zitat Claassen DO, Parisi JE, Giannini C, Boeve BF, Dickson DW, Josephs KA (2008) Frontotemporal dementia mimicking dementia with Lewy bodies. Cogn Behav Neurol 21(3):157–163PubMedCrossRef Claassen DO, Parisi JE, Giannini C, Boeve BF, Dickson DW, Josephs KA (2008) Frontotemporal dementia mimicking dementia with Lewy bodies. Cogn Behav Neurol 21(3):157–163PubMedCrossRef

Zurück zum Zitat Mendez FM, Lauterbach EC, Sampson SM, ANPA Committee on Research (2008) An evidence-based review of the psychopathology of frontotemporal dementia: a report of the ANPA committee on research. J Neuropsychiatry Clin Neurosci 20(2):130–148PubMedCrossRef Mendez FM, Lauterbach EC, Sampson SM, ANPA Committee on Research (2008) An evidence-based review of the psychopathology of frontotemporal dementia: a report of the ANPA committee on research. J Neuropsychiatry Clin Neurosci 20(2):130–148PubMedCrossRef

Zurück zum Zitat McKeith IG, Dickson DW, Lowe J, Emre M, O’Brien JT, Feldman H, Cummings J, Duda JE, Lippa C, Perry EK, Aarsland D, Arai H, Ballard CG, Boeve B, Burn DJ, Costa D, Del Ser T, Dubois B, Galasko D, Gauthier S, Goetz CG, Gomez-Tortosa E, Halliday G, Hansen LA, Hardy J, Iwatsubo T, Kalaria RN, Kaufer D, Kenny RA, Korczyn A, Kosaka K, Lee VM, Lees A, Litvan I, Londos E, Lopez OL, Minoshima S, Mizuno Y, Molina JA, Mukaetova-Ladinska EB, Pasquier F, Perry RH, Schulz JB, Trojanowski JQ, Yamada M, Consortium on DLB (2005) Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium. Neurology 65(12):1863–1872 McKeith IG, Dickson DW, Lowe J, Emre M, O’Brien JT, Feldman H, Cummings J, Duda JE, Lippa C, Perry EK, Aarsland D, Arai H, Ballard CG, Boeve B, Burn DJ, Costa D, Del Ser T, Dubois B, Galasko D, Gauthier S, Goetz CG, Gomez-Tortosa E, Halliday G, Hansen LA, Hardy J, Iwatsubo T, Kalaria RN, Kaufer D, Kenny RA, Korczyn A, Kosaka K, Lee VM, Lees A, Litvan I, Londos E, Lopez OL, Minoshima S, Mizuno Y, Molina JA, Mukaetova-Ladinska EB, Pasquier F, Perry RH, Schulz JB, Trojanowski JQ, Yamada M, Consortium on DLB (2005) Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium. Neurology 65(12):1863–1872

Zurück zum Zitat Boxer AL, Mackenzie IR, Boeve BF, Baker M, Seeley WW, Crook R, Feldman H, Hsiung GR, Rutheford N, Laluz V, Whitwell J, Foti D, McDade E, Molano J, Karydas A, Wojtas A, Goldman J, Mirsky J, Sengdy P, DeArmond S, Miller BL, Rademakers R (2011) Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. J Neurol Neurosurg Psychiatry 82(2):196–203PubMedCrossRef Boxer AL, Mackenzie IR, Boeve BF, Baker M, Seeley WW, Crook R, Feldman H, Hsiung GR, Rutheford N, Laluz V, Whitwell J, Foti D, McDade E, Molano J, Karydas A, Wojtas A, Goldman J, Mirsky J, Sengdy P, DeArmond S, Miller BL, Rademakers R (2011) Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. J Neurol Neurosurg Psychiatry 82(2):196–203PubMedCrossRef

Zurück zum Zitat Pearson JP, Williams NM, Majounie E, Waite A, Stott J, Newsway V, Murray A, Hernandez D, Guerreiro R, Singleton AB, Neal J, Morris HR (2011) Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. J Neurol 258(4):647–655PubMedCrossRef Pearson JP, Williams NM, Majounie E, Waite A, Stott J, Newsway V, Murray A, Hernandez D, Guerreiro R, Singleton AB, Neal J, Morris HR (2011) Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. J Neurol 258(4):647–655PubMedCrossRef