Mutation analyses in amyotrophic lateral sclerosis/parkinsonism-dementia complex of the Kii peninsula, Japan

Movement Disorders

Volumn 23, Issue 16, 2008, Pages 2344-2348

  Tomiyama, Hiroyuki ^a   Kokubo, Yasumasa ^b   Sasaki, Ryogen ^b   Li, Yuanzhe ^a   Imamichi, Yoko ^a   Funayama, Manabu ^a   Mizuno, Yoshikuni ^a   Hattori, Nobutaka ^a   Kuzuhara, Shigeki ^b,c  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b MIE UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c National Center Hospital of Neurology and Psychiatry   (Japan)

Author keywords

Amyotrophic lateral sclerosis; Dementia; Genetics; Kii ALS PDC; Parkinsonism

Indexed keywords

ALPHA SYNUCLEIN; DJ 1 PROTEIN; GLYCOGEN SYNTHASE KINASE 3BETA; PARKIN; SUPEROXIDE DISMUTASE; SURVIVAL MOTOR NEURON PROTEIN; TAU PROTEIN; TRANSIENT RECEPTOR POTENTIAL CHANNEL M; VALOSIN CONTAINING PROTEIN;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; BRAIN DEGENERATION; CASE REPORT; EXON; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE DOSAGE; GENE EXPRESSION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC SUSCEPTIBILITY; HOMOZYGOSITY; HUMAN; INTRON; JAPAN; MALE; MUTATIONAL ANALYSIS; PARKINSONISM; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TAUOPATHY;

AGED; ALPHA-SYNUCLEIN; AMYOTROPHIC LATERAL SCLEROSIS; DEMENTIA; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FAMILY HEALTH; FEMALE; GLYCOGEN SYNTHASE KINASE 3; HUMANS; JAPAN; MALE; MIDDLE AGED; MUTATION; PARKINSONIAN DISORDERS; TAU PROTEINS; UBIQUITIN-PROTEIN LIGASES;

EID: 61449229465     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.22262     Document Type: Article

References (43)

1. Kuzuhara S, Kokubo Y. Atypical parkinsonism of Japan: amyotrophic lateral sclerosis-parkinsonism-dementia complex of the Kii peninsula of Japan (Muro disease): an update. Mov Disord 2005;20 (Suppl 12):S108-S113.
2. Hirano A, Kurland LT, Krooth RS, et al. Parkinsonism dementia complex and endemic disease on the island of Guam. I. Clinical features. Brain 1961;84:642-641.
3. Hirano A, Kurland LT, Krooth RS, et al. Parkinsonism dementia complex and endemic disease on the island of Guam. II. Pathologic features. Brain 1961;84:662-679.
4. Kuzuhara S, Kokubo Y, Sasaki R, et al. Familial amyotrophic lateral sclerosis and parkinsonism-dementia complex of the Kii Peninsula of Japan: clinical and neuropathological study and tau analysis. Ann Neurol 2001;49:501-511.
5. Garruto RM, Yanagihara R, Gajdusek DC. Disappearance of high-incidence amyotrophic lateral sclerosis and parkinsonism-dementia on Guam. Neurology 1985;35:193-198.
6. Kisby GE, Ellison M, Spencer PS. Content of the neurotoxins cycasin (methylazoxymethanol β-D-glucoside) and BMAA (β-N-methylamino-L-alanine) in cycad flour prepared by Guam Chamorros. Neurology 1992;42:1336-1340.
7. Cox PA, Sacks OW. Cycad neurotoxins, consumption of flying foxes, and ALS-PDC disease inGuam. Neurology 2002;58:956-959.
8. Ahlskog JE, Waring SC, Kurland LT, et al. Guamanian neurodegenerative disease: investigation of the calcium metabolism/heavy metal hypothesis. Neurology 1995;45:1340-1344.
9. Hutton M, Lendon CL, Rizzu P, et al. Coding and 59-splice site mutations in TAU associated with inherited dementia (FTDP-17). Nature 1998;393:702-705.
10. Poorkaj P, Tsuang D, Wijsman E, et al. TAU as a susceptibility gene for amyotrophic lateral sclerosis-parkinsonism dementia complex of Guam. Arch Neurol 2001;58:1871-1878.
11. Sundar PD, Yu CE, Sieh W, et al. Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia. Hum Mol Genet 2007;16:295-306.
12. Morris HR, Steele JC, Crook R, et al. Genome-wide analysis of the parkinsonism-dementia complex of Guam. Arch Neurol 2004; 61:1889-1897.
13. Hermosura MC, Nayakanti H, Dorovkov MV, et al. A TRPM7 variant shows altered sensitivity to magnesium that may contribute to the pathogenesis of two Guamanian neurodegenerative disorders. Proc Natl Acad Sci USA 2005;102:11510-11515.
14. Kuzuhara S, Kokubo Y, Narita Y, Sasaki R. Continuing high incidence rates and frequent familial occurrence of amyotrophic lateral sclerosis and parkinsonism-dementia complex of the Kii peninsula of Japan. Neurology 1998;50:A173.
15. McGeer PL, Schwab C, McGeer EG, et al. Familial nature and continuing morbidity of the amyotrophic lateral sclerosis-parkinsonism dementia complex of Guam. Neurology 1997;49:400-409.
16. Kokubo Y, Kuzuhara S, Narita Y. Geographical distribution of amyotrophic lateral sclerosis with neurofibrillary tangles in the Kii Peninsula of Japan. J Neurol 2000;247:850-852.
17. Mimuro M, Kokubo Y, Kuzuhara S. Similar topographical distribution of neurofibrillary tangles in amyotrophic lateral sclerosis and parkinsonism-dementia complex in people living in the Kii peninsula of Japan suggests a single tauopathy. Acta Neuropathol 2007;113:653-658.
18. Mimuro M, Kokubo Y, Kuzuhara S. Similar topographical distribution of neurofibrillary tangles in amyotrophic lateral sclerosis and parkinsonism-dementia complex in people living in the Kii peninsula of Japan suggests a single tauopathy. Acta Neuropathol 2007;113:715-716.
19. Tomkins J, Banner SJ, McDermott CJ, et al. Mutation screening of manganese superoxide dismutase in amyotrophic lateral sclerosis. Neuroreport 2001;12:2319-2322.
20. Turner BJ, Atkin JD, Farg MA, et al. Impaired extracellular secretion of mutant superoxide dismutase 1 associates with neurotoxicity in familial amyotrophic lateral sclerosis. J Neurosci 2005;25:108-117.
21. Hadano S, Hand CK, Osuga H, et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 2001;29:166-173.
22. Yang Y, Hentati A, Deng HX, et al. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 2001;29:160-165.
23. Velasco E, Valero C, Valero A, et al. Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype. Hum Mol Genet 1996;5:257-263.
24. Cruts M, Gijselinck I, van der Zee J, et al. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 2006;442:920-924.
25. Baker M, Mackenzie IR, Pickering-Brown SM, et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 2006;442:916-919.
26. Greenway MJ, Andersen PM, Russ C, et al. ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis. Nat Genet 2006;38:411-413.
27. Lambrechts D, Storkebaum E, Morimoto M, et al. VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death. Nat Genet 2003; 34:383-394.
28. Forman MS, Mackenzie IR, Cairns NJ, et al. Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations. J Neuropathol Exp Neurol 2006;65: 571-581.
29. Nishimura AL, Mitne-Neto M, Silva HC, et al. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet 2004;75:822-831.
30. LaMonte BH, Wallace KE, Holloway BA, et al. Disruption of dynein/ dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration. Neuron 2002;34:715-727.
31. Skibinski G, Parkinson NJ, Brown JM, et al. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet 2005;37:806-808.
32. Neumann M, Sampathu DM, Kwong LK, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006;314:130-133.
33. Lovestone S, Reynolds CH, Latimer D, et al. Alzheimer's disease-like phosphorylation of the microtubule-associated protein tau by glycogen synthase kinase-3 in transfected mammalian cells. Curr Biol 1994;4:1077-1086.
34. Polymeropoulos MH, Lavedan C, Leroy E, et al. Mutation in the α-synuclein gene identified in families with Parkinson's disease. Science 1997;276:2045-2047.
35. Zimprich A, Biskup S, Leitner P, et al. Mutations in LRRK2 cause autosomal dominant parkinsonism with pleomorphic pathology. Neuron 2004;44:601-607.
36. Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998;392:605-608.
37. Bonifati V, Rizzu P, van Baren MJ, et al. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 2003;299:256-259.
38. Valente EM, Abou-Sleiman PM, Caputo V, et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 2004;304:1158-1160.
39. Ramirez A, Heimbach A, Grundemann J, et al. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 p-type ATPase. Nat Genet 2006; 38:1184-1191.
40. Jackson GR, Wiedau-Pazos M, Sang TK, et al. Human wild-type s interacts with wingless pathway components and produces neurofibrillary pathology in Drosophila. Neuron 2002;34:509-519.
41. Ishihara T, Hong M, Zhang B, et al. Age-dependent emergence and progression of a tauopathy in transgenic mice overexpressing the shortest human tau isoform. Neuron 1999;24:751-762.
42. Hasegawa M, Arai T, Akiyama H, et al. TDP-43 is deposited in the Guam parkinsonism-dementia complex brains. Brain 2007; 130:1386-1394.
43. Sreedharan J, Blair IP, Tripathi VB, et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 2008; 319:1668-1672.