Emerging parkinsonian phenotypes

Revue Neurologique

Volumn 166, Issue 10, 2010, Pages 834-840

  Elia, A E ^a   Albanese, A ^a  

^a UNIVERSITÀ CATTOLICA DEL SACRO CUORE   (Italy)

Author keywords

Dystonia; Parkinson disease; Parkinsonian syndromes; Phenotype

Indexed keywords

ALPHA SYNUCLEIN; LEVODOPA; PANTOTHENATE KINASE 2;

ACERULOPLASMINEMIA; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL FEATURE; COGNITIVE DEFECT; DEGENERATIVE DISEASE; DIABETES MELLITUS; DYSTONIA; EXTRAPYRAMIDAL SYNDROME; GAUCHER DISEASE; GENE MUTATION; GENETIC LINKAGE; HETEROZYGOSITY; HUMAN; KUFOR RAKEB DISEASE; LEWY BODY; NEUROAXONAL DYSTROPHY; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NEUROFERRITINOPATHY; NEUROLOGIC DISEASE; PARKINSON DISEASE; PARKINSONISM; PHENOTYPE; RETINA DEGENERATION; REVIEW;

EID: 77957236191     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neurol.2010.07.017     Document Type: Article

References (50)

1. W.F. Abdo, B.P. van De Warrenburg, D.J. Burn, N.P. Quinn, and B.R. Bloem The clinical approach to movement disorders Nat Rev Neurol 6 2010 29 37
2. J. Aharon-Peretz, S. Badarny, H. Rosenbaum, and R. Gershoni-Baruch Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation Neurology 65 2005 1460 1461 (Pubitemid 41552780)
3. J. Aharon-Peretz, H. Rosenbaum, and R. Gershoni-Baruch Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews N Engl J Med 351 2004 1972 1977 (Pubitemid 39447138)
4. J. Aicardi, and P. Castelein Infantile neuroaxonal dystrophy Brain 102 1979 727 748 (Pubitemid 10205610)
5. K.H. Ching, S.K. Westaway, J. Gitschier, J.J. Higgins, and S.J. Hayflick HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration Neurology 58 2002 1673 1674 (Pubitemid 34602900)
6. P.F. Chinnery, D.E. Crompton, D. Birchall, M.J. Jackson, A. Coulthard, and A. Lombes Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation Brain 130 2007 110 119 (Pubitemid 46026227)
7. S.J. Chung, J.H. Lee, M.C. Lee, H.W. Yoo, and G.H. Kim Focal hand dystonia in a patient with PANK2 mutation Mov Disord 23 2008 466 468
8. L.N. Clark, L.A. Kartsaklis, G.R. Wolf, B. Dorado, B.M. Ross, and S. Kisselev Association of glucocerebrosidase mutations with dementia with Lewy bodies Arch Neurol 66 2009 578 583
9. G. Cossu, C. Cella, M. Melis, A. Antonini, G.L. Floris, and L. Ruffini [123I]FP-CIT SPECT findings in two patients with Hallervorden-Spatz disease with homozygous mutation in PANK2 gene Neurology 64 2005 167 168 (Pubitemid 40082965)
10. D.E. Crompton, P.F. Chinnery, D. Bates, T.J. Walls, M.J. Jackson, and A.J. Curtis Spectrum of movement disorders in neuroferritinopathy Mov Disord 20 2005 95 99 (Pubitemid 40277514)
11. A.R. Curtis, C. Fey, C.M. Morris, L.A. Bindoff, P.G. Ince, and P.F. Chinnery Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease Nat Genet 28 2001 350 354 (Pubitemid 32702424)
12. A. Di Fonzo, H.F. Chien, M. Socal, S. Giraudo, C. Tassorelli, and G. Iliceto ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease Neurology 68 2007 1557 1562 (Pubitemid 46717978)
13. A. Di Fonzo, M.C. Dekker, P. Montagna, A. Baruzzi, E.H. Yonova, and L. Correia Guedes FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome Neurology 72 2009 240 245
14. A. Djarmati, J. Hagenah, K. Reetz, S. Winkler, M.I. Behrens, and H. Pawlack ATP13A2 variants in early-onset Parkinson's disease patients and controls Mov Disord 24 2009 2104 2111
15. A. Fasano, C. Colosimo, H. Miyajima, P.A. Tonali, T.J. Re, and A.R. Bentivoglio Aceruloplasminemia: a novel mutation in a family with marked phenotypic variability Mov Disord 23 2008 751 755
16. D.J. Gelb, E. Oliver, and S. Gilman Diagnostic criteria for Parkinson disease Arch Neurol 56 1999 33 39 (Pubitemid 29046907)
17. O. Goker-Alpan, B.I. Giasson, M.J. Eblan, J. Nguyen, H.I. Hurtig, and V.M. Lee Glucocerebrosidase mutations are an important risk factor for Lewy body disorders Neurology 67 2006 908 910 (Pubitemid 44394221)
18. O. Goker-Alpan, G. Lopez, J. Vithayathil, J. Davis, M. Hallett, and E. Sidransky The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations Arch Neurol 65 2008 1353 1357
19. A. Gregory, B.J. Polster, and S.J. Hayflick Clinical and genetic delineation of neurodegeneration with brain iron accumulation J Med Genet 46 2009 73 80
20. A. Gregory, S.K. Westaway, I.E. Holm, P.T. Kotzbauer, P. Hogarth, and S. Sonek Neurodegeneration associated with genetic defects in phospholipase A(2) Neurology 71 2008 1402 1409
21. S.J. Hayflick, S.K. Westaway, B. Levinson, B. Zhou, M.A. Johnson, and K.H. Ching Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome N Engl J Med 348 2003 33 40 (Pubitemid 36026344)
22. A.J. Hughes, S.E. Daniel, L. Kilford, and A.J. Lees Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinicopathological study of 100 cases J Neurol Neurosurg Psychiatry 55 1992 181 184
23. C. Klein, K. Lohmann-Hedrich, E. Rogaeva, M.G. Schlossmacher, and A.E. Lang Deciphering the role of heterozygous mutations in genes associated with parkinsonism Lancet Neurol 6 2007 652 662 (Pubitemid 46921058)
24. C. Klein, S.A. Schneider, and A.E. Lang Hereditary parkinsonism: Parkinson disease look-alikes - an algorithm for clinicians to "PARK" genes and beyond Mov Disord 24 2009 2042 2058
25. I. Kraoua, J. Stirnemann, M.J. Ribeiro, T. Rouaud, M. Verin, and A. Annic Parkinsonism in Gaucher's disease type 1: 10 new cases and a review of the literature Mov Disord 24 2009 1524 1530
26. R. Leonardi, C.O. Rock, S. Jackowski, and Y.M. Zhang Activation of human mitochondrial pantothenate kinase 2 by palmitoylcarnitine Proc Natl Acad Sci U S A 104 2007 1494 1499 (Pubitemid 46214618)
27. C. Marelli, S. Piacentini, B. Garavaglia, F. Girotti, and A. Albanese Clinical and neuropsychological correlates in two brothers with pantothenate kinase-associated neurodegeneration Mov Disord 20 2005 208 212 (Pubitemid 40361125)
28. R. Marongiu, A. Ferraris, T. Ialongo, S. Michiorri, F. Soleti, and F. Ferrari PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum Hum Mutat 29 2008 565 574
29. A.M. Martins, E.R. Valadares, G. Porta, J. Coelho, F.J. Semionato, and M.A. Pianovski Recommendations on diagnosis, treatment, and monitoring for Gaucher disease J Pediatr 155 Suppl. 1 2009 S10 S18
30. A. McNeill, D. Birchall, S.J. Hayflick, A. Gregory, J.F. Schenk, and E.A. Zimmerman T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation Neurology 70 2008 1614 1619 (Pubitemid 351620317)
31. Miyajima H. Aceruloplasminemia. 2003 (updated 2008). Gene Reviews [Internet Publication]: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book= gene&part=acp (last accessed on August 23, 2010).
32. J.L. Molinuevo, M.J. Marti, R. Blesa, and E. Tolosa Pure akinesia: an unusual phenotype of Hallervorden-Spatz syndrome Mov Disord 18 2003 1351 1353 (Pubitemid 38263323)
33. N.V. Morgan, S.K. Westaway, J.E. Morton, A. Gregory, P. Gissen, and S. Sonek PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron Nat Genet 38 2006 752 754 (Pubitemid 43980594)
34. A. Mubaidin, E. Roberts, D. Hampshire, M. Dehyyat, A. Shurbaji, and M. Mubaidien Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum J Med Genet 40 2003 543 546 (Pubitemid 36843080)
35. A.S. Najim al-Din, A. Wriekat, A. Mubaidin, M. Dasouki, and M. Hiari Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome Acta Neurol Scand 89 1994 347 352 (Pubitemid 24163649)
36. J. Neumann, J. Bras, E. Deas, S.S. O'Sullivan, L. Parkkinen, and R.H. Lachmann Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease Brain 132 2009 1783 1794
37. C. Paisan-Ruiz, K.P. Bhatia, A. Li, D. Hernandez, M. Davis, and N.W. Wood Characterization of PLA2G6 as a locus for dystonia-parkinsonism Ann Neurol 65 2009 19 23
38. M.T. Pellecchia, E.M. Valente, L. Cif, S. Salvi, A. Albanese, and V. Scarano The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration Neurology 64 2005 1810 1812 (Pubitemid 40695829)
39. A. Ramirez, A. Heimbach, J. Grundemann, B. Stiller, D. Hampshire, and L.P. Cid Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase Nat Genet 38 2006 1184 1191 (Pubitemid 44470365)
40. S.A. Schneider, A. Aggarwal, M. Bhatt, E. Dupont, S. Tisch, and P. Limousin Severe tongue protrusion dystonia: clinical syndromes and possible treatment Neurology 67 2006 940 943 (Pubitemid 44454582)
41. S.A. Schneider, K.P. Bhatia, and J. Hardy Complicated recessive dystonia parkinsonism syndromes Mov Disord 24 2009 490 499
42. S.A. Schneider, C. Paisan-Ruiz, N.P. Quinn, A.J. Lees, H. Houlden, and J. Hardy ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation Mov Disord 25 2010 979 984
43. K.D. Sethi, R.J. Adams, D.W. Loring, and T. el Gammal Hallervorden-Spatz syndrome: clinical and magnetic resonance imaging correlations Ann Neurol 24 1988 692 694 (Pubitemid 18262676)
44. S. Shojaee, F. Sina, S.S. Banihosseini, M.H. Kazemi, R. Kalhor, and G.A. Shahidi Genome-wide linkage analysis of a parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays Am J Hum Genet 82 2008 1375 1384
45. E. Sidransky, M.A. Nalls, J.O. Aasly, J. Aharon-Peretz, G. Annesi, and E.R. Barbosa Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease N Engl J Med 361 2009 1651 1661 (Pubitemid 39447138)
46. O.M. Vasconcelos, D.H. Harter, C. Duffy, B. McDonough, J.G. Seidman, and C.E. Seidman Adult Hallervorden-Spatz syndrome simulating amyotrophic lateral sclerosis Muscle Nerve 28 2003 118 122 (Pubitemid 36775969)
47. C. Vilarino-Guell, A.I. Soto, S.J. Lincoln, Y.S. Ben, M. Kefi, and M.G. Heckman ATP13A2 variability in Parkinson's disease Hum Mutat 30 2009 406 410
48. D.R. Williams, A. Hadeed, A.S. al-Din, A.L. Wreikat, and A.J. Lees Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia Mov Disord 20 2005 1264 1271 (Pubitemid 41645900)
49. K. Wong, E. Sidransky, A. Verma, T. Mixon, G.D. Sandberg, and L.K. Wakefield Neuropathology provides clues to the pathophysiology of Gaucher disease Mol Genet Metab 82 2004 192 207 (Pubitemid 38952652)
50. K. Yoshida, K. Furihata, S. Takeda, A. Nakamura, K. Yamamoto, and H. Morita A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans Nat Genet 9 1995 267 272