C9orf72 immunohistochemistry in Alzheimer's disease

doi:10.1186/alzrt140

. 2012 Sep 26;4(5):37.

doi: 10.1186/alzrt140. eCollection 2012.

C9orf72 immunohistochemistry in Alzheimer's disease

Tibor Hortobágyi¹

Affiliations

Affiliation

¹ Department of Neuropathology, Institute of Pathology, Medical and Health Science Centre, University of Debrecen, 4032 Debrecen, Nagyerdei krt. 98., Hungary ; Department of Clinical Neuroscience, Institute of Psychiatry, King's College London, De Crespigny Park, London, SE5 8AF, UK.

PMID: 23014271
PMCID: PMC3580394
DOI: 10.1186/alzrt140

C9orf72 immunohistochemistry in Alzheimer's disease

Tibor Hortobágyi. Alzheimers Res Ther. 2012.

. 2012 Sep 26;4(5):37.

doi: 10.1186/alzrt140. eCollection 2012.

Author

Tibor Hortobágyi¹

Affiliation

¹ Department of Neuropathology, Institute of Pathology, Medical and Health Science Centre, University of Debrecen, 4032 Debrecen, Nagyerdei krt. 98., Hungary ; Department of Clinical Neuroscience, Institute of Psychiatry, King's College London, De Crespigny Park, London, SE5 8AF, UK.

PMID: 23014271
PMCID: PMC3580394
DOI: 10.1186/alzrt140

Abstract

Mutation in chromosome 9 open reading frame 72 (C9orf72) is a major genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), referred to as C9FTD/ALS. The function of the protein is currently unknown, and the pathomechanism of C9FTD/ALS remains to be elucidated. The study by Satoh and colleagues in the previous issue of Alzheimer's Research & Therapy presents important new findings on C9orf72 protein expression in neurodegenerative disorders along with characterization of C9orf72 antibodies.

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References

1. 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. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011;72:245–256. doi: 10.1016/j.neuron.2011.09.011. - DOI - PMC - PubMed
1. 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. et al.A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011;72:257–268. doi: 10.1016/j.neuron.2011.09.010. - DOI - PMC - PubMed
1. Schymick JC, Traynor BJ. Expanding the genetics of amyotrophic lateral sclerosis and frontotemporal dementia. Alzheimers Res Ther. 2012;4:30. doi: 10.1186/alzrt133. - DOI - PMC - PubMed
1. Al-Chalabi A, Jones A, Troakes C, King A, Al-Sarraj S, van den Berg LH. The genetics and neuropathology of amyotrophic lateral sclerosis. Acta Neuropathol. 2012;124:339–352. doi: 10.1007/s00401-012-1022-4. - DOI - PubMed
1. Sieben A, Van Langenhove T, Engelborghs S, Martin JJ, Boon P, Cras P, De Deyn PP, Santens P, Van Broeckhoven C, Cruts M. The genetics and neuropathology of frontotemporal lobar degeneration. Acta Neuropathol. 2012;124:353–372. doi: 10.1007/s00401-012-1029-x. - DOI - PMC - PubMed

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[1] 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. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011;72:245–256. doi: 10.1016/j.neuron.2011.09.011. - DOI - PMC - PubMed

[2] 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. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011;72:245–256. doi: 10.1016/j.neuron.2011.09.011. - DOI - PMC - PubMed

[3] 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. et al.A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011;72:257–268. doi: 10.1016/j.neuron.2011.09.010. - DOI - PMC - PubMed

[4] 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. et al.A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011;72:257–268. doi: 10.1016/j.neuron.2011.09.010. - DOI - PMC - PubMed

[5] Schymick JC, Traynor BJ. Expanding the genetics of amyotrophic lateral sclerosis and frontotemporal dementia. Alzheimers Res Ther. 2012;4:30. doi: 10.1186/alzrt133. - DOI - PMC - PubMed

[6] Schymick JC, Traynor BJ. Expanding the genetics of amyotrophic lateral sclerosis and frontotemporal dementia. Alzheimers Res Ther. 2012;4:30. doi: 10.1186/alzrt133. - DOI - PMC - PubMed

[7] Al-Chalabi A, Jones A, Troakes C, King A, Al-Sarraj S, van den Berg LH. The genetics and neuropathology of amyotrophic lateral sclerosis. Acta Neuropathol. 2012;124:339–352. doi: 10.1007/s00401-012-1022-4. - DOI - PubMed

[8] Al-Chalabi A, Jones A, Troakes C, King A, Al-Sarraj S, van den Berg LH. The genetics and neuropathology of amyotrophic lateral sclerosis. Acta Neuropathol. 2012;124:339–352. doi: 10.1007/s00401-012-1022-4. - DOI - PubMed

[9] Sieben A, Van Langenhove T, Engelborghs S, Martin JJ, Boon P, Cras P, De Deyn PP, Santens P, Van Broeckhoven C, Cruts M. The genetics and neuropathology of frontotemporal lobar degeneration. Acta Neuropathol. 2012;124:353–372. doi: 10.1007/s00401-012-1029-x. - DOI - PMC - PubMed

[10] Sieben A, Van Langenhove T, Engelborghs S, Martin JJ, Boon P, Cras P, De Deyn PP, Santens P, Van Broeckhoven C, Cruts M. The genetics and neuropathology of frontotemporal lobar degeneration. Acta Neuropathol. 2012;124:353–372. doi: 10.1007/s00401-012-1029-x. - DOI - PMC - PubMed

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C9orf72 immunohistochemistry in Alzheimer's disease

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C9orf72 immunohistochemistry in Alzheimer's disease

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