Brain 18F-FDG and 11C-PiB PET findings in two siblings with FTD/ALS associated with the C9ORF72 repeat expansion

Neurocase

Volumn 20, Issue 2, 2014, Pages 150-157

  Martikainen, Mika H ^a   Gardberg, Maria ^a   Jansson, Lilja ^b   Röyttä, Matias ^a   Rinne, Juha O ^a   Kaasinen, Valtteri ^a  

^a UNIVERSITY OF TURKU   (Finland)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

Amyotrophic lateral sclerosis; C9ORF72; Frontotemporal dementia; Frontotemporal lobar degeneration; Motor neuron disease; Positron emission tomography

Indexed keywords

FLUORODEOXYGLUCOSE F 18; PITTSBURGH COMPOUND B; TAR DNA BINDING PROTEIN; UBIQUITIN; 2 (4' (METHYLAMINO)PHENYL) 6 HYDROXYBENZOTHIAZOLE; 2-(4'-(METHYLAMINO)PHENYL)-6-HYDROXYBENZOTHIAZOLE; ANILINE DERIVATIVE; C9ORF72 PROTEIN, HUMAN; DIAGNOSTIC AGENT; PROTEIN; REPETITIVE DNA; THIAZOLE DERIVATIVE;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; BRAIN WEIGHT; CASE REPORT; CLINICAL EVALUATION; DIFFERENTIAL DIAGNOSIS; DYSARTHRIA; EPISODIC MEMORY; FEMALE; FOLLOW UP; FRONTOTEMPORAL DEMENTIA; GENETIC ANALYSIS; GENETIC SCREENING; GLUCOSE METABOLISM; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MINI MENTAL STATE EXAMINATION; MUSCLE ATROPHY; NEUROLOGIC EXAMINATION; NEUROPATHOLOGY; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; POSITRON EMISSION TOMOGRAPHY; WEIGHT REDUCTION; BRAIN; GENETICS; MIDDLE AGED; NERVE CELL; PATHOLOGY; SCINTISCANNING; SIBLING;

AMYOTROPHIC LATERAL SCLEROSIS; ANILINE COMPOUNDS; BRAIN; DIAGNOSIS, DIFFERENTIAL; DNA REPEAT EXPANSION; FEMALE; FLUORODEOXYGLUCOSE F18; FRONTOTEMPORAL DEMENTIA; HUMANS; MALE; MIDDLE AGED; NEURONS; POSITRON-EMISSION TOMOGRAPHY; PROTEINS; SIBLINGS; THIAZOLES;

EID: 84890427337     PISSN: 13554794     EISSN: 14653656     Source Type: Journal    
DOI: 10.1080/13554794.2012.741252     Document Type: Article

References (31)

1. Brooks, B. R. (1994). El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial "Clinical limits of amyotrophic lateral sclerosis" workshop contributors. Journal of the Neurological Sciences, 124 (Suppl.), 96-107.
2. Chen-Plotkin, A. S., Lee, V. M. Y., & Trojanowski, J. Q. (2010). TAR DNA-binding protein 43 in neurodegenerative disease. Nature Reviews Neurology, 6, 211-220.
3. DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N., Rademakers, R. (2011). Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron, 72, 245-256.
4. Engler, H., Santillo, A. F., Wang, S. X., Lindau, M., Savitcheva, I., Nordberg, A., Kilander, L. (2008). In vivo amyloid imaging with PET in frontotemporal dementia. European Journal of Nuclear Medicine and Molecular Imaging, 35, 100-106.
5. Foster, N. L., Heidebrink, J. L., Clark, C. M., Jagust, W. J., Arnold, S. E., Barbas, N. R., Minoshima, S. (2007). FDG-PET improves accuracy in distinguishing frontotemporal dementia and Alzheimer's disease. Brain, 130, 2616-2635.
6. Kadir, A., & Nordberg, A. (2010). Target-specific PET probes for neurodegenerative disorders related to dementia. Journal of Nuclear Medicine, 51, 1418-1430.
7. Khan, B. K., Yokoyama, J. S., Takada, L. T., Sha, S. J., Rutherford, N. J., Fong, J. C., Miller, B. L. (2012). Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion. Journal of Neurology, Neurosurgery, and Psychiatry, 83, 358-364.
8. Laforce Jr, R., Buteau, J. P., Paquet, N., Verret, L., Houde, M., & Bouchard, R. W. (2010). The Value of PET in mild cognitive impairment, typical and atypical/unclear dementias: A retrospective memory clinic study. American Journal of Alzheimer's Disease and Other Dementias, 25, 324-332.
9. Lillo, P., & Hodges, J. R. (2009). Frontotemporal dementia and motor neurone disease: Overlapping clinic-pathological disorders. Journal of Clinical Neuroscience, 16, 1131-1135.
10. Lomen-Hoerth, C., Anderson, T., & Miller, B. (2002). The overlap of amyotrophic lateral sclerosis and frontotemporal dementia. Neurology, 59, 1077-1079.
11. The Lund and Manchester Groups. (1994). Clinical and neuropathological criteria for frontotemporal dementia. Journal of Neurology, Neurosurgery, and Psychiatry, 57, 416-418.
12. Mackenzie, I. R. A. (2007). The Neuropathology of FTD associated with ALS. Alzheimer Disease and Associated Disorders, 21, S44-S49.
13. Majounie, E., Abramzon, Y., Renton, A. E., Perry, R., Bassett, S. S., Pletnikova, O., Traynor, B. J. (2012a). Repeat expansion in C9ORF72 in Alzheimer's disease. New England Journal of Medicine, 366, 283-284.
14. Majounie, E., Renton, A. E., Mok, K., Dopper, E. G., Waite, A., Rollinson, S., Traynor, B. J. (2012b). Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study. Lancet Neurology, 11, 323-330.
15. McKhann, G., Drachman, D., Folstein, M., Katzman, R., Price, D., & Stadlan, E. M. (1984). Clinical diagnosis of Alzheimer's disease: Report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology, 34, 939-944.
16. Mendez, M. F., Shapira, J. S., McMurtray, A., Licht, E., & Miller, B. L. (2007). Accuracy of the Clinical Evaluation for Frontotemporal Dementia. Archives of Neurology, 64, 830-835.
17. Morita, M., Al-Chalabi, A., Andersen, P. M., Hosler, B., Sapp, P., Englund, E., Brown, R. H., Jr. (2006). A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology, 66, 839-844.
18. Mosconi, L., Tsui, W. H., Herholz, K., Pupi, A., Drzezga, A., Lucignani, G., de Leon, M. J. (2008). Multicenter standardized 18F-FDG PET diagnosis of mild cognitive impairment, Alzheimer's disease and other dementias. Journal of Nuclear Medicine, 49, 390-398. doi: 10.2967/jnumed.107.045385
19. Neary, D., Snowden, J. S., Gustafson, L., Passant, U., Stuss, D., Black, S., Benson, D. F. (1998). Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria. Neurology, 51, 1546-1554.
20. Nordberg, A., Rinne, J. O., Kadir, A., & Långström, B. (2010). The use of PET in Alzheimer disease. Nature Reviews Neurology, 6, 78-87.
21. Piguet, O., Halliday, G. M., Creasey, H., Broe, G. A., & Kril, J. J. (2009). Frontotemporal dementia and dementia with Lewy bodies in a case-control study of Alzheimer's disease. International Psychogeriatrics, 21, 688-695.
22. 11C-PIB PET imaging in Alzheimer disease and frontotemporal lobar degeneration. Neurology, 68, 1205-1212.
23. Rabinovici, G. D., Rosen, H. J., Alkalay, A., Kornak, J., Furst, A. J., Agarwal, N., Jaqust, W. J. (2011). Amyloid vs FDG-PET in the differential diagnosis of AD and FTLD. Neurology, 77, 2034-2042.
24. Ratnavalli, E., Brayne, C., Dawson, K., & Hodges, J. R. (2002). The prevalence of frontotemporal dementia. Neurology, 58, 1615-1621.
25. Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Traynor, B. J. (2011). A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron, 72, 257-268.
26. Seelaar, H., Schelhaas, H. J., Azmani, A., Küsters, B., Rosso, S., Majoor-Krakauer, D., van Swieten, J. C. (2007). TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations. Brain, 130, 1375-1385.
27. Teune, L. K., Bartels, A. L., de Jong, B. M., Willemsen, A. T., Eshuis, S. A., de Vries, J. J., Leenders, K. L. (2010). Typical cerebral metabolic patterns in neurodegenerative brain diseases. Movement Disorders, 25, 2395-2404.
28. Valdmanis, P. N., Dupre, N., Bouchard, J. P., Camu, W., Salachas, F., Meininger, V., Rouleau, G. A. (2007). Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p. Archives of Neurology, 64, 240-245.
29. Vance, C., Al-Chalabi, A., Ruddy, D., Smith, B. N., Hu, X., Sreedharan, J., Shaw, C. E. (2006). Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. Brain, 129, 868-876.
30. Womack, K. B., Diaz-Arrastia, R., Aizenstein, H. J., Arnold, S. E., Barbas, N. R., Boeve, B. F., Foster, N. L. (2011). Temporoparietal hypometabolism in frontotemporal lobar degeneration and associated imaging diagnostic errors. Archives of Neurology, 68, 329-337.
31. Yamakawa, Y., Shimada, H., Ataka, S., Tamura, A., Masaki, H., Naka, H., Miki, T. (2012). Two cases of dementias with motor neuron disease evaluated by Pittsburgh compound B-positron emission tomography. Neurological Sciences, 33, 87-92. doi: 10.1007/s10072-011-0479-6