Rare causes of dystonia parkinsonism

Current Neurology and Neuroscience Reports

Volumn 10, Issue 6, 2010, Pages 431-439

  Schneider, Susanne A ^a,b   Bhatia, Kailash P ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF LÜBECK   (Germany)

Author keywords

DJ 1 associated parkinsonism; Dopa responsive dystonia; DYT12; DYT16; DYT3; FBXO7 associated neurodegeneration; Kufor Rakeb disease; Lubag disease; Neurodegeneration with Brain Iron Accumulation (NBIA); Neuroferritinopathy; Pantothenate kinase associated neurodegeneration; PARK14; PARK15; PARK2; PARK6; PARK7; PARK9; Parkin associated parkinsonism; PINK1 associated parkinsonism; PLA2G6 associated neurodegeneration; Rapid onset dystonia parkinsonism; SENDA syndrome; SLC6A3 gene; Spastic paraplegia with a thin corpus callosum (SPG11); Wilson's disease; x linked dystonia parkinsonism

Indexed keywords

ADENOSINE TRIPHOSPHATASE; BRAIN PROTEIN; CHROMOSOME PROTEIN; DJ 1 PROTEIN; DOPAMINE TRANSPORTER; FERRITIN; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; NA+ K+ ATPASE ALPHA 3 PROTEIN; PANTOTHENATE KINASE 2; PARKIN; PHOSPHOLIPASE A2 GROUP VI; PHOSPHOTRANSFERASE; PROTEIN PRKRA; PTEN INDUCED PUTATIVE KINASE 1 PROTEIN; SPATACSIN PROTEIN; TATA BINDING PROTEIN ASSOCIATED FACTOR; TATA BOX BINDING PROTEIN ASSOCIATED FACTOR 1; UNCLASSIFIED DRUG; WILSON DISEASE PROTEIN;

AUTOSOMAL DOMINANT INHERITANCE; CAUSAL ATTRIBUTION; DIFFERENTIAL DIAGNOSIS; DYSTONIA; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; KUFOR RAKEB DISEASE; LIGHT CHAIN; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NEUROFERRITINOPATHY; NEUROIMAGING; PARKINSONISM; PROGNOSIS; RARE DISEASE; RECESSIVE INHERITANCE; REVIEW; STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD SYNDROME; WILSON DISEASE;

DIAGNOSIS, DIFFERENTIAL; DYSTONIC DISORDERS; HUMANS; PARKINSONIAN DISORDERS; PHENOTYPE;

EID: 77958563950     PISSN: 15284042     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11910-010-0136-0     Document Type: Review

References (94)

1. T Gasser 2007 Update on the genetics of Parkinson's disease Mov Disord 22 Suppl 17 S343 S350 10.1002/mds.21676 18175395 (Pubitemid 350134187)
2. DG Healy PM Abou-Sleiman NW Wood 2004 PINK, PANK, or PARK? A clinicians' guide to familial parkinsonism Lancet Neurol 3 652 662 1:CAS:528: DC%2BD2cXhtVaks7jM 10.1016/S1474-4422(04)00905-6 15488458 (Pubitemid 39370635)
3. J Hardy H Cai MR Cookson, et al. 2006 Genetics of Parkinson's disease and parkinsonism Ann Neurol 60 389 398 1:CAS:528:DC%2BD28Xht1yjtbjO 10.1002/ana.21022 17068789 (Pubitemid 44684974)
4. PM Carvalho Aguiar LJ Ozelius 2002 Classification and genetics of dystonia Lancet Neurol 1 316 325 10.1016/S1474-4422(02)00137-0 12849429 (Pubitemid 37159175)
5. AH Nemeth 2002 The genetics of primary dystonias and related disorders Brain 125 Pt 4 695 721 10.1093/brain/awf090 11912106
6. TG Nygaard 1995 Dopa-responsive dystonia Curr Opin Neurol 8 310 313 1:STN:280:DyaK28%2FitVWkuw%3D%3D 10.1097/00019052-199508000-00011 7582048
7. B Ludecke B Dworniczak K Bartholome 1995 A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome Hum Genet 95 123 125 1:STN:280:DyaK2M7htlCgtA%3D%3D 7814018
8. D Steinberger N Blau D Goriuonov, et al. 2004 Heterozygous mutation in 5′-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia Neurogenetics 5 187 190 1:CAS:528: DC%2BD2cXotVKgur4%3D 10.1007/s10048-004-0182-3 15241655 (Pubitemid 39361972)
9. Y Furukawa M Guttman SP Sparagana, et al. 2000 Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene Ann Neurol 47 517 520 1:CAS:528:DC%2BD3cXivVyhtL0%3D 10.1002/1531-8249(200004)47:4<517::AID- ANA17>3.0.CO;2-B 10762165 (Pubitemid 30194610)
10. WL Hwu PJ Wang KJ Hsiao, et al. 1999 Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation Hum Genet 105 226 230 1:CAS:528:DyaK1MXmvVGgs7s%3D 10.1007/s004390051093 10987649 (Pubitemid 29440664)
11. I Trender-Gerhard MG Sweeney P Schwingenschuh, et al. 2009 Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients J Neurol Neurosurg Psychiatry 80 839 845 1:STN:280:DC%2BD1MvovVKjsw%3D%3D 10.1136/jnnp.2008.155861 19332422 This study is a large genotype-phenotype correlation analysis for dopa-responsive dystonia due to the GTPCH1 mutation
12. F Clot D Grabli C Cazeneuve, et al. 2009 Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia Brain 132 Pt 7 1753 1763 10.1093/brain/awp084 19491146
13. CB Lucking A Durr V Bonifati, et al. 2000 Association between early-onset Parkinson's disease and mutations in the parkin gene. French Parkinson's Disease Genetics Study Group N Engl J Med 342 1560 1567 1:CAS:528: DC%2BD3cXktVCgtbs%3D 10.1056/NEJM200005253422103 10824074 (Pubitemid 30340501)
14. P Nisipeanu R Inzelberg MS Abo, et al. 2001 Parkin gene causing benign autosomal recessive juvenile parkinsonism Neurology 56 1573 1575 1:CAS:528:DC%2BD3MXkvVOlsbs%3D 11402119
15. NL Khan E Graham P Critchley, et al. 2003 Parkin disease: a phenotypic study of a large case series Brain 126 Pt 6 1279 1292 10.1093/brain/awg142 12764051 (Pubitemid 36644375)
16. E Lohmann M Periquet V Bonifati, et al. 2003 How much phenotypic variation can be attributed to parkin genotype? Ann Neurol 54 176 185 1:CAS:528:DC%2BD3sXmslCqsr4%3D 10.1002/ana.10613 12891670 (Pubitemid 36913573)
17. M Bozi KP Bhatia 2003 Paroxysmal exercise-induced dystonia as a presenting feature of young-onset Parkinson's disease Mov Disord 18 1545 1547 10.1002/mds.10597 14673897 (Pubitemid 38035383)
18. NL Khan R Katzenschlager H Watt, et al. 2004 Olfaction differentiates parkin disease from early-onset parkinsonism and Parkinson disease Neurology 62 1224 1226 1:STN:280:DC%2BD2c7otlGlug%3D%3D 15079034
19. T Kitada S Asakawa N Hattori, et al. 1998 Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism Nature 392 605 608 1:CAS:528:DyaK1cXis1Sqsrc%3D 10.1038/33416 9560156 (Pubitemid 28207717)
20. K Hedrich M Kann AJ Lanthaler, et al. 2001 The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism Hum Mol Genet 10 1649 1656 1:CAS:528:DC%2BD3MXmtFagtr4%3D 10.1093/hmg/10.16.1649 11487568
21. EM Valente S Salvi T Ialongo, et al. 2004 PINK1 mutations are associated with sporadic early-onset parkinsonism Ann Neurol 56 336 341 1:CAS:528:DC%2BD2cXotFyhs74%3D 10.1002/ana.20256 15349860 (Pubitemid 39166552)
22. EM Valente AR Bentivoglio PH Dixon, et al. 2001 Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36 Am J Hum Genet 68 895 900 1:CAS:528:DC%2BD3MXkvFars78%3D 10.1086/319522 11254447 (Pubitemid 32289735)
23. A Albanese EM Valente LM Romito, et al. 2005 The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease Neurology 64 1958 1960 1:STN:280:DC%2BD2MzgvFWktA%3D%3D 10.1212/01.WNL.0000163999.72864.FD 15955954 (Pubitemid 40800717)
24. J Doostzadeh JW Tetrud M Allen-Auerbach, et al. 2007 Novel features in a patient homozygous for the L347P mutation in the PINK1 gene Parkinsonism Relat Disord 13 359 361 1:STN:280:DC%2BD2svntFKgsA%3D%3D 10.1016/j.parkreldis.2006.08. 009 17055324 (Pubitemid 47212787)
25. CF Rohe P Montagna G Breedveld, et al. 2004 Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism Ann Neurol 56 427 431 1:CAS:528:DC%2BD2cXotFyhs7g%3D 10.1002/ana.20247 15349871 (Pubitemid 39166563)
26. Y Li H Tomiyama K Sato, et al. 2005 Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism Neurology 64 1955 1957 1:STN:280:DC%2BD2MzgvFWktw%3D%3D 10.1212/01.WNL.0000164009.36740.4E 15955953 (Pubitemid 40800716)
27. P Ibanez S Lesage E Lohmann, et al. 2006 Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa Brain 129 Pt 3 686 694 10.1093/brain/awl005 16401616 (Pubitemid 43278230)
28. S Steinlechner J Stahlberg B Volkel, et al. 2007 Co-occurrence of affective and schizophrenia spectrum disorders with PINK1 mutations J Neurol Neurosurg Psychiatry 78 532 535 10.1136/jnnp.2006.105676 17202228 (Pubitemid 46662908)
29. L Ephraty O Porat D Israeli, et al. 2007 Neuropsychiatric and cognitive features in autosomal-recessive early parkinsonism due to PINK1 mutations Mov Disord 22 566 569 10.1002/mds.21319 17260336 (Pubitemid 46608159)
30. YH Weng YH Chou WS Wu, et al. 2007 PINK1 mutation in Taiwanese early-onset parkinsonism : clinical, genetic, and dopamine transporter studies J Neurol 254 1347 1355 1:CAS:528:DC%2BD2sXhtlyitb7F 10.1007/s00415-007-0534-7 17960343 (Pubitemid 350112317)
31. AC Poole RE Thomas LA Andrews, et al. 2008 The PINK1/Parkin pathway regulates mitochondrial morphology Proc Natl Acad Sci U S A 105 1638 1643 1:CAS:528:DC%2BD1cXhvFWktbo%3D 10.1073/pnas.0709336105 18230723 (Pubitemid 351346567)
32. N Exner B Treske D Paquet, et al. 2007 Loss-of-function of human PINK1 results in mitochondrial pathology and can be rescued by parkin J Neurosci 27 12413 12418 1:CAS:528:DC%2BD2sXhtlartLbK 10.1523/JNEUROSCI.0719-07.2007 17989306 (Pubitemid 350085485)
33. V Bonifati CF Rohe GJ Breedveld, et al. 2005 Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes Neurology 65 87 95 1:CAS:528:DC%2BD2MXlsFajsrY%3D 10.1212/01.wnl.0000167546.39375.82 16009891 (Pubitemid 40967781)
34. E Rogaeva J Johnson AE Lang, et al. 2004 Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease Arch Neurol 61 1898 1904 10.1001/archneur.61.12.1898 15596610 (Pubitemid 39612950)
35. EK Tan K Yew E Chua, et al. 2006 PINK1 mutations in sporadic early-onset Parkinson's disease Mov Disord 21 789 793 10.1002/mds.20810 16482571 (Pubitemid 44028298)
36. V Bonifati P Rizzu MJ van Baren, et al. 2003 Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism Science 299 256 259 1:CAS:528:DC%2BD3sXhs1Gkuw%3D%3D 10.1126/science.1077209 12446870 (Pubitemid 36131051)
37. K Hedrich A Djarmati N Schafer, et al. 2004 DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease Neurology 62 389 394 1:CAS:528:DC%2BD2cXlvFWmsg%3D%3D 14872018
38. J Hallervorden H Spatz 1922 Eigenartige Erkrankung im extrapyramidalen System mit besonderer Beteiligung des Globus pallidus und der Substantia nigra@: Ein Beitrag zu den Beziehungen zwischen diesen beiden Zentren Z Ges Neurol Psychiat 79 254 302 10.1007/BF02878455
39. MB Hartig K Hortnagel B Garavaglia, et al. 2006 Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation Ann Neurol 59 248 256 1:CAS:528:DC%2BD28XhvVSksr4%3D 10.1002/ana.20771 16437574 (Pubitemid 43202477)
40. SJ Hayflick 2006 Neurodegeneration with brain iron accumulation: from genes to pathogenesis Semin Pediatr Neurol 13 182 185 10.1016/j.spen.2006.08.007 17101457 (Pubitemid 44709655)
41. SJ Hayflick SK Westaway B Levinson, et al. 2003 Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome N Engl J Med 348 33 40 1:CAS:528:DC%2BD3sXhsFSmsg%3D%3D 10.1056/NEJMoa020817 12510040 (Pubitemid 36026344)
42. A Antonini S Goldwurm R Benti, et al. 2006 Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegeneration Mov Disord 21 417 418 10.1002/mds.20774 16267847
43. Aggarwal A, Schneider SA, Houlden H, et al.: Indian-subcontinent NBIA: Unusual phenotypes-novel PANK2 mutations and evidence of other genetically undetermined forms. Mov Disord 2010 Apr 1 [Epub ahead of print].
44. SA Schneider A Aggarwal M Bhatt, et al. 2006 Severe tongue protrusion dystonia: clinical syndromes and possible treatment Neurology 67 940 943 1:STN:280:DC%2BD28rnt1SisQ%3D%3D 10.1212/01.wnl.0000237446.06971.72 17000958 (Pubitemid 44454582)
45. C Marelli S Piacentini B Garavaglia, et al. 2005 Clinical and neuropsychological correlates in two brothers with pantothenate kinase-associated neurodegeneration Mov Disord 20 208 212 10.1002/mds.20282 15390030 (Pubitemid 40361125)
46. KD Sethi RJ Adams DW Loring 1988 el Gammal T: Hallervorden-Spatz syndrome: clinical and magnetic resonance imaging correlations Ann Neurol 24 692 694 1:STN:280:DyaL1M%2FnsFOnsA%3D%3D 10.1002/ana.410240519 3202617 (Pubitemid 18262676)
47. SJ Hayflick M Hartman J Coryell, et al. 2006 Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations AJNR Am J Neuroradiol 27 1230 1233 1:STN:280:DC%2BD28zmtVaitA%3D%3D 16775270
48. P Valentino G Annesi 2006 Ciro Candiano IC, et al.: Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern Mov Disord 21 252 254 10.1002/mds.20681 16149094
49. A McNeill D Birchall SJ Hayflick, et al. 2008 T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation Neurology 70 1614 1619 1:CAS:528:DC%2BD1cXltVWntL0%3D 10.1212/01.wnl.0000310985. 40011.d6 18443312 (Pubitemid 351620317)
50. G Cossu C Cella M Melis, et al. 2005 [123I]FP-CIT SPECT findings in two patients with Hallervorden-Spatz disease with homozygous mutation in PANK2 gene Neurology 64 167 168 1:STN:280:DC%2BD2M%2FhslCrtQ%3D%3D 15642932
51. W Hermann H Barthel M Reuter, et al. 2000 Hallervorden-Spatz disease: findings in the nigrostriatal system [in German] Nervenarzt 71 660 665 1:STN:280:DC%2BD3cvks1arug%3D%3D 10.1007/s001150050643 10996917 (Pubitemid 30641345)
52. NV Morgan SK Westaway JE Morton, et al. 2006 PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron Nat Genet 38 752 754 1:CAS:528:DC%2BD28XmtFyru7k%3D 10.1038/ng1826 16783378 (Pubitemid 43980594)
53. Vinters H, Farrell M, Mischel P, Anders K: Diagnostic Neuropathology. New York, NY: Marcel Dekker Incorporated; 1998.
54. Paisán-Ruiz C, Li A, Schneider S, et al.: Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. Neurobiol Aging 2010 Jul 20 [Epub ahead of print].
55. MA Kurian NV Morgan L MacPherson, et al. 2008 Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN) Neurology 70 1623 1629 1:CAS:528:DC%2BD1cXltVWntLc%3D 10.1212/01.wnl.0000310986.48286.8e 18443314 (Pubitemid 351620319)
56. S Khateeb H Flusser R Ofir, et al. 2006 PLA2G6 mutation underlies infantile neuroaxonal dystrophy Am J Hum Genet 79 942 948 1:CAS:528: DC%2BD28XhtFygs7zJ 10.1086/508572 17033970 (Pubitemid 44763408)
57. LJ Dorfman TA Pedley BR Tharp BW Scheithauer 1978 Juvenile neuroaxonal dystrophy: clinical, electrophysiological, and neuropathological features Ann Neurol 3 419 428 1:STN:280:DyaE1M%2FotFahug%3D%3D 10.1002/ana.410030511 103487
58. B Rozdilsky CF Bolton M Takeda 1971 Neuroaxonal dystrophy. A case of delayed onset and protracted course Acta Neuropathol 17 331 340 1:STN:280:DyaE3M7ns12isQ%3D%3D 10.1007/BF00685019 5555207
59. C Paisan-Ruiz KP Bhatia A Li, et al. 2009 Characterization of PLA2G6 as a locus for dystonia-parkinsonism Ann Neurol 65 19 23 10.1002/ana.21415 18570303 Although PLA2G6 mutations have been associated with INAD, in this paper the role for adult-onset dystonia parkinsonism is being demonstrated. Imaging features classically seen in INAD were absent, highlighting the important of considering this disorder even when the MRI brain scan is normal
60. S Smesny D Kinder I Willhardt, et al. 2005 Increased calcium-independent phospholipase A2 activity in first but not in multiepisode chronic schizophrenia Biol Psychiatry 57 399 405 1:CAS:528:DC%2BD2MXhtlaitr0%3D 10.1016/j.biopsych. 2004.11.018 15705356 (Pubitemid 40215770)
61. Y Yu R Tao J Shi, et al. 2005 A genetic study of two calcium-independent cytosolic PLA2 genes in schizophrenia Prostaglandins Leukot Essent Fatty Acids 73 351 354 1:CAS:528:DC%2BD2MXhtVKjsLrF 10.1016/j.plefa.2005.07.003 16115752 (Pubitemid 41375630)
62. J Bras A Singleton MR Cookson J Hardy 2008 Emerging pathways in genetic Parkinson's disease: potential role of ceramide metabolism in Lewy body disease FEBS J 275 5767 5773 1:CAS:528:DC%2BD1cXhsV2mur3I 10.1111/j.1742-4658.2008. 06709.x 19021754 The authors demonstrate how ceramide metabolism may be the connecting link between various disorders that are associated with (complicated) dystonia parkinsonism. How further genes link to the same pathway remains to be established
63. SA Schneider J Hardy KP Bhatia 2009 Iron accumulation in syndromes of neurodegeneration with brain accumulation - causative or consequential? J Neurol Neurosurg Psychiatry 80 589 590 1:STN:280:DC%2BD1Mzkslyjtg%3D%3D 10.1136/jnnp.2008.169953 19147629
64. AS Najim al-Din A Wriekat A Mubaidin, et al. 1994 Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome Acta Neurol Scand 89 347 352 1:STN:280:DyaK2czmslKkuw%3D%3D 10.1111/j.1600-0404. 1994.tb02645.x 8085432
65. A Di Fonzo HF Chien M Socal, et al. 2007 ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease Neurology 68 1557 1562 10.1212/01.wnl.0000260963.08711.08 17485642 (Pubitemid 46717978)
66. A Ramirez A Heimbach J Grundemann, et al. 2006 Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase Nat Genet 38 1184 1191 1:CAS:528:DC%2BD28XhtVSns73E 10.1038/ng1884 16964263 (Pubitemid 44470365)
67. DR Williams A Hadeed 2005 al Din AS, et al.: Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia Mov Disord 20 1264 1271 10.1002/mds.20511 15986421 (Pubitemid 41645900)
68. SA Schneider C Paisan-Ruiz N Quinn, et al. 2010 ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation Mov Disord 25 979 984 10.1002/mds.22947 20310007
69. DJ Hampshire E Roberts Y Crow, et al. 2001 Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36 J Med Genet 38 680 682 1:CAS:528:DC%2BD3MXotVemurk%3D 10.1136/jmg.38.10.680 11584046
70. PF Chinnery AR Curtis C Fey, et al. 2003 Neuroferritinopathy in a French family with late onset dominant dystonia J Med Genet 40 e69 1:STN:280: DC%2BD3s3jt1Ghtw%3D%3D 10.1136/jmg.40.5.e69 12746423
71. PF Chinnery DE Crompton D Birchall, et al. 2007 Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation Brain 130 Pt 1 110 119 17142829
72. S Shojaee F Sina SS Banihosseini, et al. 2008 Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays Am J Hum Genet 82 1375 1384 1:CAS:528:DC%2BD1cXntlWqsLo%3D 10.1016/j.ajhg.2008.05.005 18513678
73. MA Kurian J Zhen SY Cheng, et al. 2009 Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia J Clin Invest 119 1595 1603 1:CAS:528: DC%2BD1MXntVClsL8%3D 19478460
74. K Ritz JL Groen JJ Kruisdijk, et al. 2009 Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp Mov Disord 24 1390 1392 10.1002/mds.22632 19441135
75. RC Patel GC Sen 1998 PACT, a protein activator of the interferon-induced protein kinase, PKR EMBO J 17 4379 4390 1:CAS:528:DyaK1cXlsFOltb8%3D 10.1093/emboj/17.15.4379 9687506 (Pubitemid 28362628)
76. LV Lee FM Pascasio FD Fuentes GH Viterbo 1976 Torsion dystonia in Panay, Philippines Adv Neurol 14 137 151 1:STN:280:DyaE283kvFygtw%3D%3D 941767
77. KC Wilhelmsen DE Weeks TG Nygaard, et al. 1991 Genetic mapping of "Lubag" (X-linked dystonia-parkinsonism) in a Filipino kindred to the pericentromeric region of the X chromosome Ann Neurol 29 124 131 1:STN:280:DyaK3M7ovFKmsg%3D%3D 10.1002/ana.410290203 1672807
78. VG Evidente J Advincula R Esteban, et al. 2002 Phenomenology of "Lubag" or X-linked dystonia-parkinsonism Mov Disord 17 1271 1277 10.1002/mds.10271 12465067 (Pubitemid 36041341)
79. VG Evidente D Nolte S Niemann, et al. 2004 Phenotypic and molecular analyses of X-linked dystonia-parkinsonism ("lubag") in women Arch Neurol 61 1956 1959 10.1001/archneur.61.12.1956 15596620 (Pubitemid 39612960)
80. CH Waters H Takahashi KC Wilhelmsen, et al. 1993 Phenotypic expression of X-linked dystonia-parkinsonism (lubag) in two women Neurology 43 1555 1558 1:STN:280:DyaK3szlsVGksg%3D%3D 8351010
81. LV Lee E Maranon C Demaisip, et al. 2002 The natural history of sex-linked recessive dystonia parkinsonism of Panay, Philippines (XDP) Parkinsonism Relat Disord 9 29 38 10.1016/S1353-8020(02)00042-1 12217620 (Pubitemid 36177217)
82. CH Waters PL Faust J Powers, et al. 1993 Neuropathology of lubag (x-linked dystonia parkinsonism) Mov Disord 8 387 390 1:STN:280: DyaK3szktFGgtA%3D%3D 10.1002/mds.870080328 8341310
83. LV Lee KG Kupke F Caballar-Gonzaga, et al. 1991 The phenotype of the X-linked dystonia-parkinsonism syndrome. An assessment of 42 cases in the Philippines Medicine (Baltimore) 70 179 187 1:STN:280:DyaK3M3jt1Cjtw%3D%3D
84. VG Evidente MK Lyons M Wheeler, et al. 2007 First case of X-linked dystonia-parkinsonism ("Lubag") to demonstrate a response to bilateral pallidal stimulation Mov Disord 22 1790 1793 10.1002/mds.21420 17579361 (Pubitemid 47597604)
85. I Martinez-Torres P Limousin S Tisch, et al. 2009 Early and marked benefit with GPi DBS for Lubag syndrome presenting with rapidly progressive life-threatening dystonia Mov Disord 24 1710 1712 10.1002/mds.22656 19514062
86. S Makino R Kaji S Ando, et al. 2007 Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism Am J Hum Genet 80 393 406 1:CAS:528:DC%2BD2sXit1Wlu7o%3D 10.1086/512129 17273961
87. AP de Carvalho KJ Sweadner JT Penniston, et al. 2004 Mutations in the Na+/K+-ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism Neuron 43 169 175 10.1016/j.neuron.2004.06.028 (Pubitemid 38942957)
88. A Brashear IJ Butler LJ Ozelius, et al. 1998 Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families Adv Neurol 78 335 339 1:STN:280:DyaK1cvitlGjtg%3D%3D 9750930
89. A Brashear WB Dobyns AP de Carvalho, et al. 2007 The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene Brain 130 Pt 3 828 835 10.1093/brain/awl340 17282997 This paper described the phenotypic spectrum of rapid-onset dystonia parkinsonism in patients with molecularly proven ATP13A2 mutations (Pubitemid 46410729)
90. M Anheim C Lagier-Tourenne G Stevanin, et al. 2009 SPG11 spastic paraplegia A new cause of juvenile parkinsonism. J Neurol 256 104 108
91. G Stevanin H Azzedine P Denora, et al. 2008 Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration Brain 131 772 784 10.1093/brain/awm293 18079167 (Pubitemid 351294708)
92. Paisan-Ruiz C, Guevara R, Federoff M, et al.: Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and Spatacsin mutations. Mov Disord 2010, in press.
93. PS Denora D Schlesinger C Casali, et al. 2009 Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion Hum Mutat 30 E500 E519 10.1002/humu.20945 19105190
94. G Stevanin FM Santorelli H Azzedine, et al. 2007 Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum Nat Genet 39 366 372 1:CAS:528:DC%2BD2sXitVOktrk%3D 10.1038/ng1980 17322883 (Pubitemid 46328495)