Slowly progressive frontotemporal lobar degeneration caused by the C9ORF72 repeat expansion: a 20-year follow-up study

Neurocase

Volumn 21, Issue 1, 2015, Pages 85-89

  Suhonen, N M ^a,b   Kaivorinne, A L ^a,b   Moilanen, V ^a   Bode, M ^b   Takalo, R ^b   Hanninen T ^c,d   Remes, A M ^c,d  

^a UNIVERSITY OF OULU   (Finland)

^b OULU UNIVERSITY HOSPITAL   (Finland)

^c UNIVERSITY OF EASTERN FINLAND   (Finland)

^d KUOPIO UNIVERSITY HOSPITAL   (Finland)

Author keywords

cognition; frontotemporal dementia; genetics; neuropsychology; semantic dementia

Indexed keywords

FLUORODEOXYGLUCOSE F 18; C9ORF72 PROTEIN, HUMAN; PROTEIN; REPETITIVE DNA;

ADULT; ANOMIA; ARTICLE; BECK DEPRESSION INVENTORY; BRAIN CORTEX ATROPHY; C9ORF72 GENE; CASE REPORT; CHROMOSOME 9; ELECTROENCEPHALOGRAPHY; EXECUTIVE FUNCTION; FOLLOW UP; FRONTAL LOBE; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENETIC ASSOCIATION; GLUCOSE METABOLISM; HUMAN; LANGUAGE ABILITY; MALE; MIDDLE AGED; MILD COGNITIVE IMPAIRMENT; MUTATOR GENE; NEUROLOGIST; NEUROPSYCHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; OPEN READING FRAME; PHENOTYPE; POSITRON EMISSION TOMOGRAPHY; PROSOPAGNOSIA; TEMPORAL LOBE; VERBAL MEMORY; VISUAL MEMORY; WORKING MEMORY; DIAGNOSTIC USE; DISEASE COURSE; GENETICS; PATHOLOGY; SCINTISCANNING;

DISEASE PROGRESSION; DNA REPEAT EXPANSION; FLUORODEOXYGLUCOSE F18; FOLLOW-UP STUDIES; FRONTOTEMPORAL LOBAR DEGENERATION; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; POSITRON-EMISSION TOMOGRAPHY; PROTEINS;

EID: 84921029430     PISSN: 13554794     EISSN: 14653656     Source Type: Journal    
DOI: 10.1080/13554794.2013.873057     Document Type: Article

References (15)

1. Czarnecki, K., Duffy, J. R., Nehl, C. R., Cross, S. A., Molano, J. R., Jack, C. R. Jr, … Boeve, B. F. (2008). Very early semantic dementia with progressive temporal lobe atrophy: An 8-year longitudinal study. Archives of Neurology, 65(12), 1659–1663. doi:10.1001/archneurol.2008.507
2. Gorno-Tempini, M. L., Hillis, A. E., Weintraub, S., Kertesz, A., Mendez, M., Cappa, S. F., & Grossman, M. (2011). Classification of primary progressive aphasia and its variants. Neurology, 76(11), 1006–1014. doi:10.1212/WNL.0b013e31821103e6
3. Hodges, J. R., Davies, R., Xuereb, J., Kril, J., & Halliday, G. (2003). Survival in frontotemporal dementia. Neurology, 61(3), 349–354.
4. Hodges, J. R., Mitchell, J., Dawson, K., Spillantini, M. G., Xuereb, J. H., McMonagle, P., … Patterson, K. (2010). Semantic dementia: Demography, familial factors and survival in a consecutive series of 100 cases. Brain, 133(1), 300–306. doi:10.1093/brain/awp248
5. Hommet, C., Mondon, K., Camus, V., De Toffol, B., & Constans, T. (2008). Epilepsy and dementia in the elderly. Dementia and Geriatric Cognitive Disorders, 25(4), 293–300. doi:10.1159/000119103
6. Irwin, D. J., McMillan, C. T., Brettschneider, J., Libon, D. J., Powers, J., Rascovsky, K., … Grossman, M. (2013). Cognitive decline and reduced survival in C9orf72 expansion frontotemporal degeneration and amyotrophic lateral sclerosis. Journal of Neurology, Neurosurgery, and Psychiatry, 84(2), 163–169. doi:10.1136/jnnp-2012-303507
7. Kaivorinne, A.-L., Krüger, J., Kuivaniemi, K., Herva, R., Majamaa, K., & Remes, A. M. (2008). Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland. BMC Neurology, 8, 48. doi:10.1186/1471-2377-8-48
8. Kashibyashi, T., Ikeda, M., Komori, K., Shinagawa, S., Shimizu, H., Toyota, Y., & Tanimukai, S. (2010). Transition of distinctive symptoms of semantic dementia during longitudinal clinical observation. Dementia and Geriatric Cognitive Disorders, 29(3), 224–232. doi:10.1159/000269972
9. Khan, B. K., Yokoyama, J. S., Takada, L., 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(4), 358–364. doi:10.1136/jnnp-2011-301883
10. Krüger, J., Kaivorinne, A.-L., Udd, B., Majamaa, K., & Remes, A. M. (2009). Low prevalence of progranulin mutations in Finnish patients with frontotemporal lobar degeneration. European Journal of Neurology, 16(1), 27–30. doi:10.1111/j.1468-1331.2008.02272.x
11. Majounie, E., Renton, A. E., Mok, K., Dopper, E. G., Waite, A., Rollinson, S., … Traynor, B. J. (2012). Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study. Lancet Neurology, 11(4), 323–330. doi:10.1016/S1474-4422(12)70043-1
12. Rascovsky, K., Hodges, J. R., Knopman, D., Mendez, M. F., Kramer, J. H., Neuhaus, J., … Miller, B. L. (2011). Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain, 134(9), 2456–2477. doi:10.1093/brain/awr179
13. Rascovsky, K., Salmon, D. P., Lipton, A. M., Leverenz, J. B., DeCarli, C., Jagust, W. J., … Galasko, D. (2005). Rate of progression differs in frontotemporal dementia and Alzheimer disease. Neurology, 65(3), 397–403.
14. 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(2), 257–268. doi:10.1016/j.neuron.2011.09.010
15. Snowden, J. S., Rollinson, S., Thompson, J. C., Harris, J. M., Stopford, C. L., Richardson, A. M., … Pickering-Brown, S. M. (2012). Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain, 135(3), 693–708. doi:10.1093/brain/awr355