Clinical and pathological continuum of multisystem TDP-43 proteinopathies

Archives of Neurology

Volumn 66, Issue 2, 2009, Pages 180-189

  Geser, Felix ^a   Martinez Lage, Maria ^a   Robinson, John ^a   Uryu, Kunihiro ^a   Neumann, Manuela ^a   Brandmeir, Nicholas J ^a   Xie, Sharon X ^a   Kwong, Linda K ^a   Elman, Lauren ^a   McCluskey, Leo ^a   Clark, Chris M ^a   Malunda, Joe ^a   Miller, Bruce L ^a   Zimmerman, Earl A ^a   Qian, Jiang ^a   Van Deerlin, Vivianna ^a   Grossman, Murray ^a   Lee, Virginia M Y ^a   Trojanowski, John Q ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA BINDING PROTEIN; TAR DNA BINDING PROTEIN;

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUTOPSY; CENTRAL NERVOUS SYSTEM; CLINICAL FEATURE; COGNITIVE DEFECT; CONTROLLED STUDY; EXTRAPYRAMIDAL SYMPTOM; FEMALE; FRONTOTEMPORAL DEMENTIA; GLIA CELL; HUMAN; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; MOLECULAR WEIGHT; MORBIDITY; MOTOR NERVE; NERVE CELL; NERVE DEGENERATION; NERVE FIBER; PERFORMANCE; PRIORITY JOURNAL;

AGED; AMYOTROPHIC LATERAL SCLEROSIS; BRAIN; BRAIN MAPPING; COGNITION DISORDERS; DEMENTIA; DISEASE PROGRESSION; DNA-BINDING PROTEINS; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; INCLUSION BODIES; MALE; MIDDLE AGED; MOTOR NEURON DISEASE; MOVEMENT DISORDERS; NEUROGLIA; NEURONS; RETROSPECTIVE STUDIES; UBIQUITIN; UBIQUITINATION;

EID: 60549117972     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2008.558     Document Type: Article

References (17)

1. Sampathu DM, Neumann M, Kwong LK, et al. Pathological heterogeneity of fron-totemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies. Am J Pathol. 2006;169(4):1343-1352.
2. Cairns NJ, Bigio EH, Mackenzie IR, et al; Consortium for Frontotemporal Lobar Degeneration. Neuropathologic diagnostic and nosologic criteria for frontotem-poral lobar degeneration: consensus of the Consortium for Frontotemporal Lo-bar Degeneration. Acta Neuropathol. 2007;114(1):5-22.
3. Mackenzie IR, Baborie A, Pickering-Brown S, et al. Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype. Acta Neuropathol. 2006;112(5):539-549.
4. Neumann M, Sampathu DM, Kwong LK, et al. Ubiquitinated TDP-43 in fronto-temporal lobar degeneration and amyotrophic lateral sclerosis. Science. 2006; 314(5796):130-133.
5. Brooks BR, Miller RG, Swash M, MunsatTL; World Federation of Neurology Research Group on Motor Neuron Diseases. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000;1(5):293-299.
6. Geser F, Brandmeir NJ, Kwong LK, et al. Evidence of multisystem disorder in whole-brain map of pathological TDP-43 in amyotrophic lateral sclerosis. Arch Neurol. 2008;65(5):636-641.
7. Brandmeir NJ, Geser F, Kwong LK, et al. Severe subcortical TDP-43 pathology in sporadic frontotemporal lobar degeneration with motor neuron disease. Acta Neuropathol. 2008;115(1):123-131.
8. Nishihira Y, Tan CF, Onodera O, et al. Sporadic amyotrophic lateral sclerosis: two pathological patterns shown by analysis of distribution of TDP-43-immunoreactive neuronal and glial cytoplasmic inclusions. Acta Neuropathol. 2008; 116(2):169-182.
9. Kwong LK, Uryu K, Trojanowski JQ, Lee VM. TDP-43 proteinopathies: neurode-generative protein misfolding diseases without amyloidosis. Neurosignals. 2008; 16(1):41-51.
10. Davidson Y, Kelley T, Mackenzie IR, et al. Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43. Acta Neuropathol. 2007;113(5):521-533.
11. Bigio EH. Update on recent molecular and genetic advances in frontotemporal lobar degeneration. J Neuropathol Exp Neurol. 2008;67(7):635-648.
12. Neary D, Snowden JS, Gustafson L, et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology. 1998;51(6):1546-1554.
13. Mackenzie IR, Feldman HH. Ubiquitin immunohistochemistry suggests classic motor neuron disease, motor neuron disease with dementia, and frontotempo-ral dementia of the motor neuron disease type represent a clinicopathologic spectrum. J Neuropathol Exp Neurol. 2005;64(8):730-739.
14. Grossman M, Wood EM, Moore P, et al. TDP-43 pathologic lesions and clinical phenotype in frontotemporal lobar degeneration with ubiquitin-positive inclusions. Arch Neurol. 2007;64(10):1449-1454.
15. Sleegers K, Brouwers N, Maurer-Stroh S, et al. Progranulin genetic variability contributes to amyotrophic lateral sclerosis. Neurology. 2008;71(4):253-259.
16. Chen-Plotkin AS, Geser F, Plotkin JB, et al. Variations in the progranulin gene affect global gene expression in frontotemporal lobar degeneration. Hum Mol Genet. 2008;17(10):1349-1362.
17. Morita M, Al Chalabi A, Andersen PM, et al. A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology. 2006;66(6):839-844.