Pallidonigral TDP-43 pathology in Perry syndrome

Parkinsonism and Related Disorders

Volumn 15, Issue 4, 2009, Pages 281-286

  Wider, Christian ^a   Dickson, Dennis W ^b   Stoessl, A Jon ^c   Tsuboi, Yoshio ^d   Chapon, Françoise ^e   Gutmann, Ludwig ^f   Lechevalier, Bernard ^e   Calne, Donald B ^c   Personett, David A ^b   Hulihan, Mary ^b   Kachergus, Jennifer ^b   Rademakers, Rosa ^b   Baker, Matthew C ^b   Grantier, Linda L ^c   Sujith, O K ^c   Brown, Laura ^a   Calne, Susan ^c   Farrer, Matthew J ^b   Wszolek, Zbigniew K ^a  

^a MAYO CLINIC   (United States)

^b MAYO GRADUATE SCHOOL   (United States)

^c Pacific Parkinson's Research Centre   (Canada)

^d FUKUOKA UNIVERSITY   (Japan)

^e CAEN UNIVERSITY HOSPITAL   (France)

^f WEST VIRGINIA UNIVERSITY   (United States)

Author keywords

Autosomal dominant; Axonal dystrophy; Neuronal cytoplasmic inclusions; Pallidonigral; Parkinsonism; Perry syndrome; TARDBP; TDP 43

Indexed keywords

PROGRANULIN; TAR DNA BINDING PROTEIN;

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRAIN REGION; BRAIN TISSUE; CELL INCLUSION; CLINICAL FEATURE; DEPRESSION; DYSTROPHY; ELECTROPHORETIC MOBILITY; FRONTOTEMPORAL DEMENTIA; GENEALOGY; GENETIC ANALYSIS; GLOBUS PALLIDUS; HUMAN; HYPOVENTILATION; IMMUNOHISTOCHEMISTRY; LEWY BODY; MOTONEURON; NERVE CELL NECROSIS; NEUROPATHOLOGY; PARKINSONISM; PERRY SYNDROME; PRIORITY JOURNAL; SPHEROID CELL; SUBSTANTIA NIGRA; WEIGHT REDUCTION;

DEPRESSION; DNA-BINDING PROTEINS; FEMALE; GLOBUS PALLIDUS; HUMANS; HYPOVENTILATION; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MIDDLE AGED; PARKINSONIAN DISORDERS; SUBSTANTIA NIGRA; WEIGHT LOSS;

EID: 64249085517     PISSN: 13538020     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2008.07.005     Document Type: Article

References (39)

1. Wider C., and Wszolek Z.K. Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome) - a literature review. Parkinsonism Relat Disord 14 1 (2008) 1-7
2. Perry T.L., Bratty P.J., Hansen S., Kennedy J., Urquhart N., and Dolman C.L. Hereditary mental depression and Parkinsonism with taurine deficiency. Arch Neurol 32 2 (1975) 108-113
3. Perry T.L., Wright J.M., Berry K., Hansen S., and Perry Jr. T.L. Dominantly inherited apathy, central hypoventilation, and Parkinson's syndrome: clinical, biochemical, and neuropathologic studies of 2 new cases. Neurology 40 12 (1990) 1882-1887
4. Purdy A., Hahn A., Barnett H.J., Bratty P., Ahmad D., Lloyd K.G., et al. Familial fatal Parkinsonism with alveolar hypoventilation and mental depression. Ann Neurol 6 6 (1979) 523-531
5. Lechevalier B., Schupp C., Fallet-Bianco C., Viader F., Eustache F., Chapon F., et al. [Familial parkinsonian syndrome with athymhormia and hypoventilation]. Rev Neurol (Paris) 148 1 (1992) 39-46
6. Lechevalier B., Chapon F., Defer G., Rivrain Y., Le Doze F., Schupp C., et al. [Perry and Purdy's syndrome (familial and fatal parkinsonism with hypoventilation and athymhormia)]. Bull Acad Natl Med 189 3 (2005) 481-490 (discussion 490-2)
7. Elibol B., Kobayashi T., Atac F.B., Hattori N., Sahin G., and Gurer G. Familial parkinsonism with apathy, depression and central hypoventilation (Perry's syndrome) (2002), Kluwer Academic/Plenum Publishers, Boston, MA
8. Tsuboi Y., Wszolek Z.K., Kusuhara T., Doh-ura K., and Yamada T. Japanese family with parkinsonism, depression, weight loss, and central hypoventilation. Neurology 58 7 (2002) 1025-1030
9. Bhatia K.P., Daniel S.E., and Marsden C.D. Familial parkinsonism with depression: a clinicopathological study. Ann Neurol 34 6 (1993) 842-847
10. Roy III E.P., Riggs J.E., Martin J.D., Ringel R.A., and Gutmann L. Familial parkinsonism, apathy, weight loss, and central hypoventilation: successful long-term management. Neurology 38 4 (1988) 637-639
11. Tsuboi Y., Dickson D.W., Nabeshima K., Schmeichel A.M., Wszolek Z.K., Yamada T., et al. Neurodegeneration involving putative respiratory neurons in Perry syndrome. Acta Neuropathol 115 2 (2008) 263-268
12. Neumann M., Sampathu D.M., Kwong L.K., Truax A.C., Micsenyi M.C., Chou T.T., et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314 5796 (2006) 130-133
13. Arai T., Hasegawa M., Akiyama H., Ikeda K., Nonaka T., Mori H., et al. TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Res Commun 351 3 (2006) 602-611
14. Cairns N.J., Neumann M., Bigio E.H., Holm I.E., Troost D., Hatanpaa K.J., et al. TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions. Am J Pathol 171 1 (2007) 227-240
15. Davidson Y., Kelley T., Mackenzie I.R., Pickering-Brown S., Du Plessis D., Neary D., et al. Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43. Acta Neuropathol 113 5 (2007) 521-533
16. Wszolek Z.K., Tsuboi Y., Farrer M., Uitti R.J., and Hutton M.L. Hereditary tauopathies and parkinsonism. Adv Neurol 91 (2003) 153-163
17. Josephs K.A., and Dickson D.W. Diagnostic accuracy of progressive supranuclear palsy in the Society for Progressive Supranuclear Palsy brain bank. Mov Disord 18 9 (2003) 1018-1026
18. Amador-Ortiz C., Lin W.L., Ahmed Z., Personett D., Davies P., Duara R., et al. TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease. Ann Neurol 61 5 (2007) 435-445
19. Kwong L.K., Neumann M., Sampathu D.M., Lee V.M., and Trojanowski J.Q. TDP-43 proteinopathy: the neuropathology underlying major forms of sporadic and familial frontotemporal lobar degeneration and motor neuron disease. Acta Neuropathol 114 1 (2007) 63-70
20. Baker M., Mackenzie I.R., Pickering-Brown S.M., Gass J., Rademakers R., Lindholm C., et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 442 7105 (2006) 916-919
21. Cruts M., Gijselinck I., van der Zee J., Engelborghs S., Wils H., Pirici D., et al. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 442 7105 (2006) 920-924
22. Gitcho M.A., Baloh R.H., Chakraverty S., Mayo K., Norton J.B., Levitch D., et al. TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol 63 4 (2008) 535-538
23. Sreedharan J., Blair I.P., Tripathi V.B., Hu X., Vance C., Rogelj B., et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 319 5870 (2008) 1668-1672
24. Kabashi E., Valdmanis P.N., Dion P., Spiegelman D., McConkey B.J., Vande Velde C., et al. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet 40 5 (2008) 572-574
25. Dickson D.W., Josephs K.A., and Amador-Ortiz C. TDP-43 in differential diagnosis of motor neuron disorders. Acta Neuropathol 114 1 (2007) 71-79
26. Mackenzie I.R. The neuropathology and clinical phenotype of FTD with progranulin mutations. Acta Neuropathol 114 1 (2007) 49-54
27. Josephs K.A., Ahmed Z., Katsuse O., Parisi J.F., Boeve B.F., Knopman D.S., et al. Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations. J Neuropathol Exp Neurol 66 2 (2007) 142-151
28. Forman M.S., Mackenzie I.R., Cairns N.J., Swanson E., Boyer P.J., Drachman D.A., et al. Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations. J Neuropathol Exp Neurol 65 6 (2006) 571-581
29. Neumann M., Mackenzie I.R., Cairns N.J., Boyer P.J., Markesbery W.R., Smith C.D., et al. TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations. J Neuropathol Exp Neurol 66 2 (2007) 152-157
30. Mackenzie I.R., Baborie A., Pickering-Brown S., Du Plessis D., Jaros E., Perry R.H., et al. Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype. Acta Neuropathol 112 5 (2006) 539-549
31. Sampathu D.M., Neumann M., Kwong L.K., Chou T.T., Micsenyi M., Truax A., et al. Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies. Am J Pathol 169 4 (2006) 1343-1352
32. Cairns N.J., Bigio E.H., Mackenzie I.R., Neumann M., Lee V.M., Hatanpaa K.J., et al. Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration. Acta Neuropathol 114 1 (2007) 5-22
33. Neumann M., Kwong L.K., Truax A.C., Vanmassenhove B., Kretzschmar H.A., Van Deerlin V.M., et al. TDP-43-positive white matter pathology in frontotemporal lobar degeneration with ubiquitin-positive inclusions. J Neuropathol Exp Neurol 66 3 (2007) 177-183
34. Geser F., Winton M.J., Kwong L.K., Xu Y., Xie S.X., Igaz L.M., et al. Pathological TDP-43 in parkinsonism-dementia complex and amyotrophic lateral sclerosis of Guam. Acta Neuropathol 115 1 (2008) 133-145
35. Zhang H., Tan C.F., Mori F., Tanji K., Kakita A., Takahashi H., et al. TDP-43-immunoreactive neuronal and glial inclusions in the neostriatum in amyotrophic lateral sclerosis with and without dementia. Acta Neuropathol 115 1 (2008) 115-122
36. Mackenzie I.R., Bigio E.H., Ince P.G., Geser F., Neumann M., Cairns N.J., et al. Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Ann Neurol 61 5 (2007) 427-434
37. Nakashima-Yasuda H., Uryu K., Robinson J., Xie S.X., Hurtig H., Duda J.E., et al. Co-morbidity of TDP-43 proteinopathy in Lewy body related diseases. Acta Neuropathol 114 3 (2007) 221-229
38. Zhang Y.J., Xu Y.F., Dickey C.A., Buratti E., Baralle F., Bailey R., et al. Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43. J Neurosci 27 39 (2007) 10530-10534
39. Dickson D.W. TDP-43 immunoreactivity in neurodegenerative disorders: disease versus mechanism specificity. Acta Neuropathol 115 1 (2008) 147-149