PINK1-linked parkinsonism is associated with Lewy body pathology

Brain

Volumn 133, Issue 4, 2010, Pages 1128-1142

  Samaranch, Lluís ^a   Lorenzo Betancor, Oswaldo ^a,b   Arbelo, José M ^c   Ferrer, Isidre ^d,e   Lorenzo, Elena ^a   Irigoyen, Jaione ^a,b,e   Pastor, Maria A ^a,b,e   Marrero, Carmen ^f   Isla, Concepción ^c   Herrera Henriquez, Joanna ^c   Pastor, Pau ^a,b,e  

^a UNIVERSITY OF NAVARRA   (Spain)

^b UNIVERSITY CLINIC OF NAVARRA   (Spain)

^c HOSPITAL UNIVERSITARIO INSULAR DE GRAN CANARIA   (Spain)

^d HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^e CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

^f Hospital General de Fuerteventura   (Spain)

Author keywords

Lewy body; Neuropathology; Parkinson's disease; SPECT; Splicing mutation

Indexed keywords

AMANTADINE; CABERGOLINE; DOPAMINE RECEPTOR STIMULATING AGENT; LEVODOPA; MESSENGER RNA; PHOSPHATASE AND TENSIN HOMOLOG INDUCED PUTATIVE KINASE 1; PROTEIN; RASAGILINE; ROPINIROLE; SELEGILINE; UNCLASSIFIED DRUG;

ADULT; AGED; AMYGDALOID NUCLEUS; ARTICLE; AUTOPSY; BRAIN STEM; CLINICAL ARTICLE; DISEASE DURATION; DRUG SUBSTITUTION; DRUG WITHDRAWAL; EXON; FEMALE; GENE DELETION; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LATERAL RETICULAR NUCLEUS; LEWY BODY; LOCUS CERULEUS; MALE; MENTAL DISEASE; MEYNERT BASAL NUCLEUS; NEURITE; PARKINSON DISEASE; PARKINSONISM; PHENOTYPE; PRIORITY JOURNAL; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; SUBSTANTIA NIGRA;

ADOLESCENT; ADULT; AGED; FEMALE; HUMANS; LEWY BODIES; LINKAGE (GENETICS); MALE; MUTATION; PARKINSONIAN DISORDERS; PEDIGREE; PROTEIN KINASES;

EID: 77950855127     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awq051     Document Type: Article

References (65)

1. Abou-Sleiman PM, Healy DG, Quinn N, Lees AJ, Wood NW. The role of pathogenic DJ-1 mutations in Parkinson's disease. Ann Neurol 2003; 54: 283-286
2. Albanese A, Valente EM, Romito LM, Bellacchio E, Elia AE, Dallapiccola B. The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease. Neurology 2005; 64: 1958-1960
3. Aston-Jones G, Cohen JD. An integrative theory of locus coeruleus-norepinephrine function: adaptive gain and optimal performance. Annu Rev Neurosci 2005; 28: 403-450 (Pubitemid 41098911)
4. Bandmann O. DJ-1: the second gene for early onset Parkinson disease. Neurology 2004; 62: 357-358
5. Baumann B, Danos P, Krell D, Diekmann S, Wurthmann C, Bielau H, et al. Unipolar-bipolar dichotomy of mood disorders is supported by noradrenergic brainstem system morphology. J Affect Disord 1999; 54: 217-224
6. Bing G, Zhang Y, Watanabe Y, McEwen BS, Stone EA. Locus coeruleus lesions potentiate neurotoxic effects of MPTP in dopaminergic neurons of the substantia nigra. Brain Res 1994; 668: 261-265
7. Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, et al. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 2003; 299: 256-259 (Pubitemid 36131051)
8. Booij J, Knol RJ. SPECT imaging of the dopaminergic system in (premotor) Parkinson's disease. Parkinsonism Relat Disord 2007; 13 (Suppl 3): S425-8.
9. Braak H, Del Tredici K, Bratzke H, Hamm-Clement J, Sandmann-Keil D, Rub U. Staging of the intracerebral inclusion body pathology associated with idiopathic Parkinson's disease (preclinical and clinical stages). J Neurol 2002; 249; (Suppl 3): III/1-5.
10. Burn DJ, Rowan EN, Allan LM, Molloy S, O'Brien JT, McKeith IG. Motor subtype and cognitive decline in Parkinson's disease, Parkinson's disease with dementia, and dementia with Lewy bodies. J Neurol Neurosurg Psychiatry. 2006 77. 585-589 (Pubitemid 43844579)
11. Camargos ST, Dornas LO, Momeni P, Lees A, Hardy J, Singleton A, et al. Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations. Mov Disord 2009; 24: 662-666
12. Cazeneuve C, San C, Ibrahim SA, Mukhtar MM, Kheir MM, Leguern E, et al. A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease. Neurogenetics 2009; 10: 265-270
13. Cherra SJ 3rd , Dagda RK, Tandon A, Chu CT. Mitochondrial autophagy as a compensatory response to PINK1 deficiency. Autophagy 2009; 5: 1213-1214
14. Chishti MA, Bohlega S, Ahmed M, Loualich A, Carroll P, Sato C, et al. T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease. Arch Neurol 2006; 63: 1483-1485
15. Dagda RK, Cherra SJ 3rd, Kulich SM, Tandon A, Park D, Chu CT. Loss of PINK1 function promotes mitophagy through effects on oxidative stress and mitochondrial fission. J Biol Chem 2009; 284: 13843-13855
16. de Rijk MC, Launer LJ, Berger K, Breteler MM, Dartigues JF, Baldereschi M, et al. Prevalence of Parkinson's disease in Europe: A collaborative study of population-based cohorts. Neurologic Diseases in the Elderly Research Group. Neurology 2000; 54: S21-3. (Pubitemid 30390601)
17. den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000; 15: 7-12.
18. Farrer M, Chan P, Chen R, Tan L, Lincoln S, Hernandez D, et al. Lewy bodies and parkinsonism in families with parkin mutations. Ann Neurol 2001; 50: 293-300.
19. Fornai F, Bassi L, Torracca MT, Scalori V, Corsini GU. Norepinephrine loss exacerbates methamphetamine-induced striatal dopamine depletion in mice. Eur J Pharmacol 1995; 283: 99-102.
20. Gandhi S, Muqit MM, Stanyer L, Healy DG, Abou-Sleiman PM, Hargreaves I, et al. PINK1 protein in normal human brain and Parkinson's disease. Brain 2006; 129: 1720-1731
21. Gispert S, Ricciardi F, Kurz A, Azizov M, Hoepken HH, Becker D, et al. Parkinson phenotype in aged PINK1-deficient mice is accompanied by progressive mitochondrial dysfunction in absence of neurodegeneration. PLoS One 2009; 4: e5777.
22. Gouider-Khouja N, Larnaout A, Amouri R, Sfar S, Belal S, Ben Hamida C, et al. Autosomal recessive parkinsonism linked to parkin gene in a Tunisian family. Clinical, genetic and pathological study. Parkinsonism Relat Disord 2003; 9: 247-251
23. Hayashi S, Wakabayashi K, Ishikawa A, Nagai H, Saito M, Maruyama M, et al. An autopsy case of autosomal-recessive juvenile parkinsonism with a homozygous exon 4 deletion in the parkin gene. Mov Disord 2000; 15: 884-888
24. He F, Peltz SW, Donahue JL, Rosbash M, Jacobson A. Stabilization and ribosome association of unspliced pre-mRNAs in a yeast upf1-mutant. Proc Natl Acad Sci USA 1993; 90: 7034-7038
25. Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992; 55: 181-184
26. Ibanez P, Lesage S, Lohmann E, Thobois S, De Michele G, Borg M, et al. Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa. Brain 2006; 129: 686-694
27. Isaias IU, Benti R, Goldwurm S, Zini M, Cilia R, Gerundini P, et al. Striatal dopamine transporter binding in Parkinson's disease associated with the LRRK2 Gly2019Ser mutation. Mov Disord 2006; 21: 1144-1147
28. Ishihara-Paul L, Hulihan MM, Kachergus J, Upmanyu R, Warren L, Amouri R, et al. PINK1 mutations and parkinsonism. Neurology 2008; 71: 896-902.
29. Jellinger KA. Formation and development of Lewy pathology: a critical update. J Neurol 2009; 256(Suppl 3): 270-279
30. Kessler KR, Hamscho N, Morales B, Menzel C, Barrero F, Vives F, et al. Dopaminergic function in a family with the PARK6 form of autosomal recessive Parkinson's syndrome. J Neural Transm 2005; 112: 1345-1353
31. Khan NL, Valente EM, Bentivoglio AR, Wood NW, Albanese A, Brooks DJ, et al. Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: an 18F-dopa PET study. Ann Neurol 2002; 52: 849-853
32. Kitada T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, Minoshima S, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998; 392: 605-608 (Pubitemid 28207717)
33. Kuzmiak HA, Maquat LE. Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges. Trends Mol Med 2006; 12: 306-316
34. Leutenegger AL, Salih MA, Ibanez P, Mukhtar MM, Lesage S, Arabi A, et al. Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1. Arch Neurol 2006; 63: 1257-1261
35. Li Y, Tomiyama H, Sato K, Hatano Y, Yoshino H, Atsumi M, et al. Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism. Neurology 2005; 64: 1955-1957
36. Liu W, Vives-Bauza C, Acin-Perez R, Yamamoto A, Tan Y, Li Y, et al. PINK1 defect causes mitochondrial dysfunction, proteasomal deficit and alpha-synuclein aggregation in cell culture models of Parkinson's disease. PLoS One 2009; 4: e4597.
37. Lohmann E, Periquet M, Bonifati V, Wood NW, De Michele G, Bonnet AM, et al. How much phenotypic variation can be attributed to parkin genotype? Ann Neurol 2003; 54: 176-185
38. Lucking CB, Durr A, Bonifati V, Vaughan J, De Michele G, Gasser T, et al. Association between early-onset Parkinson's disease and mutations in the parkin gene. N Engl J Med 2000; 342: 1560-1567
39. Marien M, Briley M, Colpaert F. Noradrenaline depletion exacerbates MPTP-induced striatal dopamine loss in mice. Eur J Pharmacol 1993; 236: 487-489
40. Marongiu R, Brancati F, Antonini A, Ialongo T, Ceccarini C, Scarciolla O, et al. Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum. Hum Mutat 2007; 28: 98.
41. Marongiu R, Ferraris A, Ialongo T, Michiorri S, Soleti F, Ferrari F, et al. PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. Hum Mutat 2008; 29: 565.
42. Marongiu R, Spencer B, Crews L, Adame A, Patrick C, Trejo M, et al. Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson's disease by disturbing calcium flux. J Neurochem 2009; 108: 1561-1574
43. Mizuno Y, Hattori N, Mori H, Suzuki T, Tanaka K. Parkin and Parkinson's disease. Curr Opin Neurol 2001; 14: 477-482
44. Mori H, Kondo T, Yokochi M, Matsumine H, Nakagawa-Hattori Y, Miyake T, et al. Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q. Neurology 1998; 51: 890-892
45. Nelson KK, Green MR. Mechanism for cryptic splice site activation during pre-mRNA splicing. Proc Natl Acad Sci USA 1990; 87: 6253-6257
46. Papapetropoulos S, Mash DC. Psychotic symptoms in Parkinson's disease. From description to etiology. J Neurol 2005; 252: 753-764
47. Periquet M, Latouche M, Lohmann E, Rawal N, De Michele G, Ricard S, et al. Parkin mutations are frequent in patients with isolated earlyonset parkinsonism. Brain 2003; 126: 1271-1278
48. Pramstaller PP, Schlossmacher MG, Jacques TS, Scaravilli F, Eskelson C, Pepivani I, et al. Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers. Ann Neurol 2005; 58: 411-422
49. Rohe CF, Montagna P, Breedveld G, Cortelli P, Oostra BA, Bonifati V. Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism. Ann Neurol 2004; 56: 427-431
50. Santpere G, Ferrer I. LRRK2 and neurodegeneration. Acta Neuropathol 2009; 117: 227-246
51. Savettieri G, Annesi G, Civitelli D, Ciro Candiano IC, Salemi G, Ragonese P, et al. Identification of the novel D297fsX318 PINK1 mutation and phenotype variation in a family with earlyonset Parkinson's disease. Parkinsonism Relat Disord 2008; 14: 509-512
52. Sherer TB, Betarbet R, Stout AK, Lund S, Baptista M, Panov AV, et al. An in vitro model of Parkinson's disease: linking mitochondrial impairment to altered alpha-synuclein metabolism and oxidative damage. J Neurosci 2002; 22: 7006-7015
53. Steinlechner S, Stahlberg J, Volkel B, Djarmati A, Hagenah J, Hiller A, et al. Co-occurrence of affective and schizophrenia spectrum disorders with PINK1 mutations. J Neurol Neurosurg Psychiatry 2007; 78: 532-535
54. Tan JM, Wong ES, Lim KL. Protein misfolding and aggregation in Parkinson Disease. Antioxid Redox Signal 2009; 11: 2119-2134
55. Tissingh G, Booij J, Bergmans P, Winogrodzka A, Janssen AG, van Royen EA, et al. Iodine-123-N-omega-fluoropropyl-2beta-carbomethoxy-3beta-(4-iod ophenyl)tropane SPECT in healthy controls and early-stage, drug-naive Parkinson's disease. J Nucl Med 1998; 39: 1143-1148 (Pubitemid 28326141)
56. Todd AM, Staveley BE. Pink1 suppresses alpha-synuclein-induced phenotypes in a Drosophila model of Parkinson's disease. Genome 2008; 51: 1040-1046
57. Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 2004a; 304: 1158-1160
58. Valente EM, Bentivoglio AR, Dixon PH, Ferraris A, Ialongo T, Frontali M, et al. Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36. Am J Hum Genet 2001; 68: 895-900.
59. Valente EM, Salvi S, Ialongo T, Marongiu R, Elia AE, Caputo V, et al. PINK1 mutations are associated with sporadic early-onset parkinsonism. Ann Neurol 2004b; 56: 336-341
60. van de Warrenburg BP, Lammens M, Lucking CB, Denefle P, Wesseling P, Booij J, et al. Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations. Neurology 2001; 56: 555-557
61. van Dongen PA. The human locus coeruleus in neurology and psychiatry. (Parkinson's, Lewy body, Hallervorden-Spatz, Alzheimer's and Korsakoff's disease, (pre)senile dementia, schizophrenia, affective disorders, psychosis). Prog Neurobiol 1981; 17: 97-139.
62. Vives-Bauza C, Zhou C, Huang Y, Cui M, de Vries RL, Kim J, et al. PINK1-dependent recruitment of Parkin to mitochondria in mitophagy. Proc Natl Acad Sci USA 2009; 107: 378-383
63. Weiss JM, Boss-Williams KA, Moore JP, Demetrikopoulos MK, Ritchie JC, West CH. Testing the hypothesis that locus coeruleus hyperactivity produces depression-related changes via galanin. Neuropeptides 2005; 39: 281-7.
64. Wolters EC. Intrinsic and extrinsic psychosis in Parkinson's disease. J Neurol 2001; 248(Suppl 3): III22-7.
65. Xiong H, Wang D, Chen L, Choo YS, Ma H, Tang C, et al. Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation. J Clin Invest 2009; 119: 650-660