Frontotemporal lobar degeneration with TDP-43 proteinopathy and chromosome 9p repeat expansion in C9ORF72: Clinicopathologic correlation

Neuropathology

Volumn 33, Issue 2, 2013, Pages 122-133

  Bigio, Eileen H ^a   Weintraub, Sandra ^a   Rademakers, Rosa ^b   Baker, Matt ^b   Ahmadian, Saman S ^a   Rademaker, Alfred ^a   Weitner, Bing Bing ^a   Mao, Qinwen ^a   Lee, Kyung Hwa ^a   Mishra, Manjari ^a   Ganti, Rakhee A ^a   Mesulam, M Marsel ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

^b MAYO CLINIC   (United States)

Author keywords

ALS; C9ORF72; FTLD; P62; TDP 43; Ubiquitin

Indexed keywords

PROTEIN P62;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; BASAL GANGLION; CELL EXPANSION; CELL INCLUSION; CELL NUCLEUS INCLUSION BODY; CEREBELLUM; CHROMOSOME 9P; CLINICAL ARTICLE; CLINICAL FEATURE; CORPUS STRIATUM; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENETIC TRAIT; GENOTYPE; GLIOSIS; HIPPOCAMPAL CA1 REGION; HIPPOCAMPAL SCLEROSIS; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MOTOR NEURON DISEASE; NEOCORTEX; NEUROPATHOLOGY; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DNA BINDING; TDP 43 PROTEINOPATHY; TEMPORAL LOBE;

AGED; AGED, 80 AND OVER; CHROMOSOMES, HUMAN, PAIR 9; DNA REPEAT EXPANSION; FEMALE; FRONTOTEMPORAL LOBAR DEGENERATION; HIPPOCAMPUS; HUMANS; IMMUNOPHENOTYPING; MALE; MIDDLE AGED; PROTEINS; TDP-43 PROTEINOPATHIES;

EID: 84875806504     PISSN: 09196544     EISSN: 14401789     Source Type: Journal    
DOI: 10.1111/j.1440-1789.2012.01332.x     Document Type: Article

References (29)

1. DeJesus-Hernandez M, Mackenzie IR, Boeve BF etal. Expanded GGGGCC hexanucleotide repeat in non-coding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011; 72: 245-256.
2. Renton AE, Majounie E, Waite A etal. A nexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011; 72: 257-268.
3. Gijselinck I, Van Langenhove T, van der Zee J etal. A Cporf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol 2012; 11: 54-65.
4. Murray ME, DeJesus-Hernandez M, Rutherford N etal. Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathol 2011; 122: 673-690.
5. Al-Sarraj S, King A, Troakes C etal. p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72 linked FTLD and MND/ALS. Acta Neuropathol 2011; 122: 691-702.
6. Troakes C, Maekawa S, Wijesekera L etal. An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline. Neuropathology Dec 19 2011. doi: 10.1111/j.1440-1789.2011.01286.x.
7. Stewart H, Rutherford NJ, Briemberg H etal. Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene of chromosome 9p. Acta Neuropathol 2012; 123: 409-417. DOI 10.1007/s00401-011-0937-5.
8. Simon-Sanchez J, Dopper EGP, Cohn-Hokke PE etal. The clinical and pathological phenotype of C9orf72 hexanucleotide repeat expansions. Brain 2012; 135: 723-735. doi:10.1093/brain/awr353.
9. Snowden JS, Rollinson S, Thompson JC etal. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain 2012; 135: 693-708. doi:10.1093/brain/awr355.
10. Pikkarainen M, Hartikainen P, Alafuzoff I. Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions visualized with ubiquitin-binding protein p62 immunohistochemistry. J Neuropathol Exp Neurol 2008; 67: 280-298.
11. Boxer AL, Mackenzie IR, Boeve BF etal. Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. J Neurol Neurosurg Psychiatry 2011; 82: 196-203.
12. King A, Al-Sarraj S, Shaw C. Frontotemporal lobar degeneration with ubiquitinated tau-negative inclusions and additional alpha-synuclein pathology but also unusual cerebellar ubiquitinated p62-positive, TDP-43 negative inclusions. Neuropathology 2009; 29: 466-471.
13. King A, Maekawa S, Bodi I, Troakes C, Al-Sarraj S. Ubiquitinated p62 immunopositive cerebellar cortical neuronal inclusions are evident across the spectrum of TDP-43 proteinopathies but are only rarely additionally immunopositive for phosphorylation-dependent TDP-43. Neuropathology 2011; 31: 239-249.
14. Mackenzie IRA, Neumann M, Baborie A etal. A harmonized classification system for FTLD-TDP pathology. Acta Neuropathol 2011; 122: 111-113.
15. Mirra SS, Heyman A, McKeel D etal. The Consortium to Establish a Registry for Alzheimer's Disease (CERAD), II: standardization of neuropathological assessment of Alzheimer's disease. Neurology 1991; 41: 479-486.
16. Braak H, Braak E. Neuropathological stageing of Alzheimer-related changes. Acta Neuropathol 1991; 82: 239-259.
17. Baker M, Mackenzie IR, Pickering-Brown SM etal. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 2006; 442: 916-919.
18. DeJesus-Hernandez M, Kocerha J, Finch N etal. De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis. Hum Mutat 2010; 31: E1377-E1389. Online DOI: 10.1002/humu.21241.
19. Hutton M, Lendon CL, Rizzu P etal. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998; 393: 702-705.
20. Rutherford NJ, Zhang Y-J BM etal. Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. PLoS Genet 2008; 4: e1000193. doi:10.1371/journal.pgen.1000193.
21. Montine TJ, Phelps CH, Beach TG etal. National Institute on Aging-Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease: a practical approach. Acta Neuropathol 2012; 123: 1-11.
22. Hyman BT, Phelps CH, Beach TG etal. National Institute on Aging-Alzheimer's Association guidelines for the neuropathology assessment of Alzheimer's disease. Alzheimer's Dement 2012; 8: 1-13.
23. Gitcho MA, Bigio EH, Mishra M etal. TARDBP 3′ UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy. Acta Neuropathol 2009; 118: 633-645.
24. Wang I-F, Wu L-S, Chang H-Y, Shen C-KJ. TDP-43, the signature protein of FTLD-U, is a neuronal activity-responsive factor. J Neurochem 2008; 105: 797-806.
25. Kocerha J, Kouri N, Baker M etal. Altered microRNA expression in frontotemporal lobar degeneration with TDP-43 pathology caused by progranulin mutations. BMC Genomics 2011; 12: 527-536.
26. Lipton AM, Cullum CM, Satumtira S etal. Contribution of asymmetric synapse loss to lateralizing clinical deficits in frontotemporal dementias. Arch Neurol 2001; 58: 1233-1239.
27. Connelly SJ, Mukaetova-Ladinska EB, Abdul-All Z etal. Synaptic changes in frontotemporal lobar degeneration: correlation with MAPT haplotype and APOE genotype. Neuropathol Appl Neurobiol 2011; 37: 366-380.
28. Baumer D, Ansorge O, Almeida M, Talbot K. The role of RNA processing in the pathogenesis of motor neuron degeneration. Expert Rev Mol Med 2010; 12: e21.
29. Lin CL, Bristol LA, Jin L etal. Aberrant RNA processing in a neurodegenerative disease: the cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis. Neuron 1998; 20: 589-602.