Recessively inherited parkinsonism: Effect of ATP13A2 mutations on the clinical and neuroimaging phenotype

Archives of Neurology

Volumn 67, Issue 11, 2010, Pages 1357-1363

  Brüggemann, Norbert ^a   Hagenah, Johann ^a   Reetz, Kathrin ^b   Schmidt, Alexander ^a   Kasten, Meike ^a   Buchmann, Inga ^a   Eckerle, Susanne ^a   Bähre, Manfred ^c   Münchau, Alexander ^d   Djarmati, Ana ^a   Van Der Vegt, Joyce ^e   Siebner, Hartwig ^e   Binkofski, Ferdinand ^a   Ramirez, Alfredo ^a   Behrens, Maria I ^f   Klein, Christine ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

^b RWTH AACHEN UNIVERSITY   (Germany)

^c MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^d UNIVERSITY OF HAMBURG   (Germany)

^e UNIVERSITY OF KIEL   (Germany)

^f HOSPITAL CLÍNICO UNIVERSIDAD DE CHILE   (Chile)

Author keywords

[No Author keywords available]

Indexed keywords

DOPAMINE TRANSPORTER;

ADULT; AGED; ARTICLE; ATP13A2 GENE; AUTOSOMAL RECESSIVE DISORDER; BRAIN FUNCTION; BRAIN REGION; BRAIN TISSUE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL FEATURE; CLINICAL STUDY; COLOR DISCRIMINATION; CONTROLLED STUDY; FAMILY; FEMALE; GENE; GENE MUTATION; GERMANY; HETEROZYGOTE; HUMAN; KUFOR RAKEB SYNDROME; MALE; MUTATIONAL ANALYSIS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OLFACTORY DISCRIMINATION; OUTCOME ASSESSMENT; PARKINSONISM; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE; PRESYNAPTIC POTENTIAL; PRIORITY JOURNAL; PROSPECTIVE STUDY;

AGED; BRAIN; BRAIN MAPPING; COLOR PERCEPTION; DISCRIMINATION (PSYCHOLOGY); FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; NERVE DEGENERATION; OLFACTORY PERCEPTION; PARKINSONIAN DISORDERS; PEDIGREE; PHENOTYPE; PROSPECTIVE STUDIES; PROTON-TRANSLOCATING ATPASES;

EID: 77954957723     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2010.281     Document Type: Article

References (32)

1. Najim al-Din AS, Wriekat A, Mubaidin A, Dasouki M, Hiari M. Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome. Acta Neurol Scand. 1994;89(5):347-352.
2. Williams DR, Hadeed A, al-Din AS, Wreikat AL, Lees AJ. Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia. Mov Disord. 2005;20(10): 1264-1271. (Pubitemid 41645900)
3. Ramirez A, Heimbach A, Gründemann 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(10):1184-1191. (Pubitemid 44470365)
4. Abou-Sleiman PM, Muqit MM, McDonald NQ, et al. A heterozygous effect for PINK1 mutations in Parkinson's disease? Ann Neurol. 2006;60(4):414-419. (Pubitemid 44684977)
5. Kumazawa R, Tomiyama H, Li Y, et al. Mutation analysis of the PINK1 gene in 391 patients with Parkinson disease. Arch Neurol. 2008;65(6):802-808. (Pubitemid 351831459)
6. Sun M, Latourelle JC, Wooten GF, et al. Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Arch Neurol. 2006;63(6):826-832. (Pubitemid 43882289)
7. Di Fonzo A, Chien HF, Socal M, et al; Italian Parkinson Genetics Network. ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. Neurology. 2007;68(19):1557-1562.
8. Lin CH, Tan EK, Chen ML, et al. Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore. Neurology. 2008;71(21):1727-1732.
9. Behrens MI, Brüggemann N, Chana P, et al. Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations [published online August 3, 2010]. Mov Disord. doi:10.1002/mds.22996.
10. Gibb WR, Lees AJ. The relevance of the Lewy body to the pathogenesis of idiopathic Parkinson's disease. J Neurol Neurosurg Psychiatry. 1988;51(6):745-752.
11. Doty RL, Shaman P, Kimmelman CP, Dann MS. University of Pennsylvania Smell Identification Test: a rapid quantitative olfactory function test for the clinic. Laryngoscope. 1984;94(2 Pt 1):176-178. (Pubitemid 14186660)
12. Catafau AM, Tolosa E; DaTSCAN Clinically Uncertain Parkinsonian Syndromes Study Group. Impact of dopamine transporter SPECT using 123I-Ioflupane on diagnosis and management of patients with clinically uncertain Parkinsonian syndromes. Mov Disord. 2004;19(10):1175-1182.
13. Ashburner J, Friston KJ. Unified segmentation. Neuroimage. 2005;26(3):839-851.
14. Hagenah JM, Becker B, Brüggemann N, et al. Transcranial sonography findings in a large family with homozygous and heterozygous PINK1 mutations. J Neurol Neurosurg Psychiatry. 2008;79(9):1071-1074.
15. Hagenah JM, König IR, Becker B, et al. Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles. J Neurol. 2007; 254(10):1407-1413. (Pubitemid 350112333)
16. Walter U, Niehaus L, Probst T, Benecke R, Meyer BU, Dressler D. Brain parenchyma sonography discriminates Parkinson's disease and atypical parkinsonian syndromes. Neurology. 2003;60(1):74-77. (Pubitemid 36070647)
17. Walter U, Dressler D, Wolters A, Wittstock M, Greim B, Benecke R. Sonographic discrimination of dementia with Lewy bodies and Parkinson's disease with dementia. J Neurol. 2006;253(4):448-454.
18. Kägi G, Schwingenschuh P, Bhatia KP. Arm swing is reduced in idiopathic cervical dystonia. Mov Disord. 2008;23(12):1784-1787.
19. van der Vegt JP, van Nuenen BF, Bloem BR, Klein C, Siebner HR. Imaging the impact of genes on Parkinson's disease [published online February 3, 2009]. Neuroscience. 2009;164(1):191-204.
20. Vlaar AM, de Nijs T, Kessels AG, et al. Diagnostic value of 123I-ioflupane and 123I-iodobenzamide SPECT scans in 248 patients with parkinsonian syndromes. Eur Neurol. 2008;59(5):258-266.
21. Lu CS, Chou YH, Weng YH, Chen RS. Genetic and DAT imaging studies of familial parkinsonism in a Taiwanese cohort. J Neural Transm Suppl. 2006;(70): 235-240.
22. Weng YH, Chou YH, Wu WS, et al. PINK1 mutation in Taiwanese early-onset parkinsonism: clinical, genetic, and dopamine transporter studies. J Neurol. 2007; 254(10):1347-1355.
23. Hilker R, Klein C, Ghaemi M, et al. Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene. Ann Neurol. 2001;49(3):367-376.
24. Khan NL, Brooks DJ, Pavese N, et al. Progression of nigrostriatal dysfunction in a parkin kindred: an [18F]dopa PET and clinical study. Brain. 2002;125(pt 10): 2248-2256.
25. Binkofski F, Reetz K, Gaser C, et al. Morphometric fingerprint of asymptomatic Parkin and PINK1 mutation carriers in the basal ganglia. Neurology. 2007;69 (9):842-850. (Pubitemid 47329583)
26. Reetz K, Gaser C, Klein C, et al. Structural findings in the basal ganglia in genetically determined and idiopathic Parkinson's disease. Mov Disord. 2009;24 (1):99-103.
27. Corson PW, Nopoulos P, Miller DD, Arndt S, Andreasen NC. Change in basal ganglia volume over 2 years in patients with schizophrenia: typical versus atypical neuroleptics. Am J Psychiatry. 1999;156(8):1200-1204.
28. Ning YP, Kanai K, Tomiyama H, et al. PARK9-linked parkinsonism in eastern Asia: mutation detection in ATP13A2 and clinical phenotype. Neurology. 2008;70 (16 pt 2):1491-1493.
29. Schmidt K, Wolfe DM, Stiller B, Pearce DA. Cd2+, Mn2+, Ni2+ and Se2+ toxicity to Saccharomyces cerevisiae lacking YPK9p the orthologue of human ATP13A2. Biochem Biophys Res Commun. 2009;383(2):198-202.
30. Schneider SA, Hardy J, Bhatia KP. Iron accumulation in syndromes of neurodegeneration with brain iron accumulation 1 and 2: causative or consequential? J Neurol Neurosurg Psychiatry. 2009;80(6):589-590.
31. Berg D, Roggendorf W, Schröder U, et al. Echogenicity of the substantia nigra: association with increased iron content and marker for susceptibility to nigrostriatal injury. Arch Neurol. 2002;59(6):999-1005.
32. Klein C, Lohmann-Hedrich K, Rogaeva E, Schlossmacher MG, Lang AE. Deciphering the role of heterozygous mutations in genes associated with parkinsonism. Lancet Neurol. 2007;6(7):652-662. (Pubitemid 46921058)