Elucidating the genetics and pathology of Perry syndrome

Journal of the Neurological Sciences

Volumn 289, Issue 1-2, 2010, Pages 149-154

  Wider, Christian ^a,b   Dachsel, Justus C ^b   Farrer, Matthew J ^b   Dickson, Dennis W ^a   Tsuboi, Yoshio ^c   Wszolek, Zbigniew K ^a  

^a MAYO CLINIC   (United States)

^b MAYO GRADUATE SCHOOL   (United States)

^c FUKUOKA UNIVERSITY   (Japan)

Author keywords

DCTN1; Depression; Dynactin; Hypoventilation; p150glued; Parkinsonism; Perry syndrome; TDP 43

Indexed keywords

DYNACTIN; PROTEIN P50; PROTEIN P62; TAR DNA BINDING PROTEIN;

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CELL INCLUSION; CELL NUCLEUS INCLUSION BODY; DEGENERATIVE DISEASE; DEPRESSION; FAMILY; GENE MUTATION; GENETIC ANALYSIS; GENETICS; GLIA CELL; HISTOLOGY; HUMAN; HYPOVENTILATION; IMMUNOHISTOCHEMISTRY; LOCUS CERULEUS; MICROTUBULE; NERVE FIBER; NEUROPATHOLOGY; NUCLEAR EXPORT SIGNAL; NUCLEAR LOCALIZATION SIGNAL; PARKINSON DISEASE; PERRY SYNDROME; PRIORITY JOURNAL; RETROGRADE NERVE FIBER TRANSPORT; SUBSTANTIA NIGRA; WEIGHT REDUCTION;

ADULT; AGE OF ONSET; AGED; ANIMALS; BRAIN; CERCOPITHECUS AETHIOPS; COS CELLS; DEPRESSION; DNA-BINDING PROTEINS; FAMILY HEALTH; FEMALE; GLYCINE; HUMANS; HYPOVENTILATION; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MIDDLE AGED; MODELS, MOLECULAR; MUTATION; PARKINSONIAN DISORDERS; SERINE; TRANSFECTION;

EID: 74149090119     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2009.08.044     Document Type: Article

References (33)

1. 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
2. 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
3. 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
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 90-2
7. Bhatia K.P., Daniel S.E., and Marsden C.D. Familial parkinsonism with depression: a clinicopathological study. Ann Neurol 34 6 (1993) 842-847
8. 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
9. 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
10. 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
11. Wider C., Dickson D.W., Stoessl A.J., Tsuboi Y., Chapon F., Gutmann L., et al. Pallidonigral TDP-43 pathology in Perry syndrome. Parkinsonism Relat Disord 15 4 (2009) 281-286
12. 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
13. Dickson D.W. TDP-43 immunoreactivity in neurodegenerative disorders: disease versus mechanism specificity. Acta Neuropathol 115 1 (2008) 147-149
14. Josephs K.A., Whitwell J.L., Knopman D.S., Hu W.T., Stroh D.A., Baker M., et al. Abnormal TDP-43 immunoreactivity in AD modifies clinicopathologic and radiologic phenotype. Neurology 70 (2008) 1850-1857
15. 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
16. 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
17. 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
18. 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
19. Farrer M.J., Hulihan M.M., Kachergus J.M., Dächsel J.C., Stoessl A.J., Grantier L.L., et al. DCTN1 mutations in Perry syndrome. Nat Genet 41 2 (2009) 163-165
20. Puls I., Jonnakuty C., LaMonte B.H., Holzbaur E.L., Tokito M., Mann E., et al. Mutant dynactin in motor neuron disease. Nat Genet 33 4 (2003) 455-456
21. Puls I., Oh S.J., Sumner C.J., Wallace K.E., Floeter M.K., Mann E.A., et al. Distal spinal and bulbar muscular atrophy caused by dynactin mutation. Ann Neurol 57 5 (2005) 687-694
22. Munch C., Rosenbohm A., Sperfeld A.D., Uttner I., Reske S., Krause B.J., et al. Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD. Ann Neurol 58 5 (2005) 777-780
23. Munch C., Sedlmeier R., Meyer T., Homberg V., Sperfeld A.D., Kurt A., et al. Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. Neurology 63 4 (2004) 724-726
24. Schroer T.A. Dynactin. Annu Rev Cell Dev Biol 20 (2004) 759-779
25. LaMonte B.H., Wallace K.E., Holloway B.A., Shelly S.S., Ascano J., Tokito M., et al. Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration. Neuron 34 5 (2002) 715-727
26. Levy J.R., Sumner C.J., Caviston J.P., Tokito M.K., Ranganathan S., Ligon L.A., et al. A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. J Cell Biol 172 5 (2006) 733-745
27. Dixit R., Levy J.R., Tokito M., Ligon L.A., and Holzbaur E.L. Regulation of dynactin through the differential expression of p150Glued isoforms. J Biol Chem 283 48 (2008) 33611-33619
28. Culver-Hanlon T.L., Lex S.A., Stephens A.D., Quintyne N.J., and King S.J. A microtubule-binding domain in dynactin increases dynein processivity by skating along microtubules. Nat Cell Biol 8 3 (2006) 264-270
29. Weisbrich A., Honnappa S., Jaussi R., Okhrimenko O., Frey D., Jelesarov I., et al. Structure-function relationship of CAP-Gly domains. Nat Struct Mol Biol 14 10 (2007) 959-967
30. Wang I.F., Wu L.S., and Shen C.K. TDP-43: an emerging new player in neurodegenerative diseases. Trends Mol Med 14 11 (2008) 479-485
31. Winton M.J., Igaz L.M., Wong M.M., Kwong L.K., Trojanowski J.Q., and Lee V.M. Disturbance of nuclear and cytoplasmic TAR DNA-binding protein (TDP-43) induces disease-like redistribution, sequestration, and aggregate formation. J Biol Chem 283 19 (2008) 13302-13309
32. Hannon G.J., and Rossi J.J. Unlocking the potential of the human genome with RNA interference. Nature 431 7006 (2004) 371-378
33. Lewis J., Melrose H., Bumcrot D., Hope A., Zehr C., Lincoln S., et al. In vivo silencing of alpha-synuclein using naked siRNA. Mol Neurodegener 3 1 (2008) 19