Page 132 - Read Online
P. 132

Hum Mol Genet 2009;18:341‑6.                        Bacon  JA, Hentati  E, Williams  L, Yanagiya  A, Sonenberg  N,
           129. Tan EK, Schapira AH. Summary of GIGYF2 studies in Parkinson’s   Lockhart PJ, Zubair AC, Uitti RJ, Aasly JO, Krygowska‑Wajs A,
              disease: the burden of proof. Eur J Neurol 2010;17:175‑6.  Opala  G, Wszolek  ZK, Frigerio  R, Maraganore  DM, Gosal  D,
           130. Vilariño‑Güell C, Wider C, Ross OA, Dachsel JC, Kachergus JM,   Lynch T, Hutchinson M, Bentivoglio AR, Valente EM, Nichols WC,
              Lincoln SJ, Soto‑Ortolaza AI, Cobb SA, Wilhoite GJ, Bacon JA,   Pankratz N, Foroud T, Gibson RA, Hentati F, Dickson DW, Destée
              Behrouz B, Melrose HL, Hentati E, Puschmann A, Evans DM,   A, Farrer MJ. Translation initiator EIF4G1 mutations in familial
              Conibear E, Wasserman WW, Aasly JO, Burkhard PR, Djaldetti R,   Parkinson disease. Am J Hum Genet 2011;89:398‑406.
              Ghika  J, Hentati  F, Krygowska‑Wajs  A, Lynch  T, Melamed  E,   140. Sudhaman S, Behari M, Govindappa ST, Muthane UB, Juyal RC,
              Rajput A, Rajput AH, Solida A, Wu RM, Uitti RJ, Wszolek ZK,   Thelma BK. VPS35 and EIF4G1 mutations are rare in Parkinson’s
              Vingerhoets F, Farrer MJ. VPS35 mutations in Parkinson disease.   disease among Indians. Neurobiol Aging 2013;34:2442.e1‑3.
              Am J Hum Genet 2011;89:162‑7.                   141. Nishioka K, Funayama M, Vilariño‑Güell C, Ogaki K, Li Y, Sasaki R,
           131. Zimprich A, Benet‑Pagès A, Struhal W, Graf E, Eck SH, Offman MN,   Kokubo Y, Kuzuhara S, Kachergus JM, Cobb SA, Takahashi H,
              Haubenberger D, Spielberger S, Schulte EC, Lichtner P, Rossle SC,   Mizuno Y, Farrer MJ, Ross OA, Hattori N. EIF4G1 gene mutations
              Klopp N, Wolf E, Seppi K, Pirker W, Presslauer S, Mollenhauer B,   are not a common cause of Parkinson’s disease in the Japanese
              Katzenschlager R, Foki T, Hotzy C, Reinthaler E, Harutyunyan A,   population. Parkinsonism Relat Disord 2014;20:659‑61.
              Kralovics R, Peters A, Zimprich F, Brücke T, Poewe W, Auff E,   142. Saad  M, Lesage  S,  Saint‑Pierre  A, Corvol  JC, Zelenika  D,
              Trenkwalder C, Rost B, Ransmayr G, Winkelmann J, Meitinger T,   Lambert JC, Vidailhet M, Mellick GD, Lohmann E, Durif F, Pollak P,
              Strom TM. A mutation in VPS35, encoding a subunit of the retromer   Damier P, Tison F, Silburn PA, Tzourio C, Forlani S, Loriot MA,
              complex, causes late‑onset Parkinson disease. Am J Hum Genet   Giroud M, Helmer C, Portet F, Amouyel P, Lathrop M, Elbaz A,
              2011;89:168‑75.                                     Durr A, Martinez M, Brice A; French Parkinson’s Disease Genetics
           132. Guo JF, Sun QY, Lv ZY, Yu RL, Li K, Zhang YH, Zhang YH, Tian JY,   Study Group. Genome‑wide association study confirms BST1 and
              Xia K, Yan XX, Tang BS. VPS35 gene variants are not associated   suggests a locus on 12q24 as the risk loci for Parkinson’s disease in
              with Parkinson’s disease in the mainland Chinese population.   the European population. Hum Mol Genet 2011;20:615‑27.
              Parkinsonism Relat Disord 2012;18:983‑5.        143. Wang C, Feng X, Xie S, Gu Z, Chan P. Exonic sequencing revealed
           133. Chen Y, Chen K, Song W, Chen X, Cao B, Huang R, Zhao B, Guo X,   no causative mutation in the BST1 gene in patients with Parkinson’s
              Burgunder J, Li J, Shang HF. VPS35 Asp620Asn and EIF4G1   disease. Neurobiol Aging 2013;34:2695.e9‑10.
              Arg1205His mutations are rare in Parkinson disease from southwest   144. Harbo HF, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S,
              China. Neurobiol Aging 2013;34:1709.e7‑8.           Fontaine  B, De Jonghe  P, Lossos  A, Lynch  T, Mariotti  C,
           134. Ando M, Funayama M, Li Y, Kashihara K, Murakami Y, Ishizu N,   Schöls L, Spinazzola  A, Szolnoki  Z, Tabrizi  SJ, Tallaksen  C,
              Toyoda  C, Noguchi  K, Hashimoto  T, Nakano  N, Sasaki  R,   Zeviani M, Burgunder JM, Gasser T; EFNS. EFNS guidelines on
              Kokubo Y, Kuzuhara S, Ogaki K, Yamashita C, Yoshino H, Hatano T,   the molecular diagnosis of neurogenetic disorders: general issues,
              Tomiyama H, Hattori N. VPS35 mutation in Japanese patients with   Huntington’s disease, Parkinson’s disease and dystonias. Eur J
              typical Parkinson’s disease. Mov Disord 2012;27:1413‑7.  Neurol 2009;16:777‑85.
           135. Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S,   145. Marek  K, Jennings  D, Tamagnan  G, Seibyl  J. Biomarkers for
              Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S,   Parkinson’s [corrected] disease: tools to assess Parkinson’s disease
              Rodriguez D, Desguerre I, Mubaidin A, Bertini E, Trembath RC,   onset and progression. Ann Neurol 2008;64 Suppl 2:S111‑21.
              Simonati A, Schanen C, Johnson CA, Levinson B, Woods CG,   146. Dickson  DW, Braak  H, Duda  JE, Duyckaerts  C, Gasser  T,
              Wilmot B, Kramer P, Gitschier J, Maher ER, Hayflick SJ. PLA2G6,   Halliday GM, Hardy J, Leverenz JB, Del Tredici K, Wszolek ZK,
              encoding a phospholipase A2, is mutated in neurodegenerative   Litvan I. Neuropathological assessment of Parkinson’s disease:
              disorders with high brain iron. Nat Genet 2006;38:752‑4.  refining the diagnostic criteria. Lancet Neurol 2009;8:1150‑7.
           136. Paisan‑Ruiz C, Bhatia KP, Li A, Hernandez D, Davis M, Wood NW,   147. Forman MS, Lee VM, Trojanowski JQ. Nosology of Parkinson’s
              Hardy J, Houlden H, Singleton A, Schneider SA. Characterization   disease: looking for the way out of a quagmire.  Neuron
              of PLA2G6 as a locus for dystonia‑parkinsonism.  Ann Neurol   2005;47:479‑82.
              2009;65:19‑23.                                  148. Wang C, Cai Y, Gu Z, Ma J, Zheng Z, Tang BS, Xu Y, Zhou Y, Feng T,
           137. Tomiyama  H, Yoshino  H, Ogaki  K, Li  L, Yamashita  C, Li  Y,   Wang T, Chen SD, Chan P; Chinese Parkinson Study Group. Clinical
              Funayama M, Sasaki R, Kokubo Y, Kuzuhara S, Hattori N. PLA2G6   profiles of Parkinson’s disease associated with common leucine‑rich
              variant in Parkinson’s disease. J Hum Genet 2011;56:401‑3.  repeat kinase 2 and glucocerebrosidase genetic variants in Chinese
           138. Lv Z, Guo J, Sun Q, Li K, Yu R, Tian J, Yan X, Tang B. Association   individuals. Neurobiol Aging 2014;35:725.e1‑6.
              between PLA2G6 gene polymorphisms and Parkinson’s disease
              in the Chinese Han population.  Parkinsonism  Relat Disord
              2012;18:641‑4.
           139. Chartier‑Harlin MC, Dachsel JC, Vilariño‑Güell C, Lincoln SJ,   Cite this article as: Wang CD, Chan P. Clinicogenetics of Parkinson’s disease:
                                                               a drawing  but  not  completed  picture.  Neuroimmunol  Neuroinflammation
              Leprêtre F, Hulihan  MM, Kachergus  J, Milnerwood  AJ,   2014;1(3):115-26.
              Tapia  L, Song  MS, Le Rhun  E, Mutez  E, Larvor  L, Duflot  A,   Source of Support: Nil. Conflict of Interest: No.
              Vanbesien‑Mailliot  C, Kreisler  A, Ross  OA, Nishioka  K,
              Soto‑Ortolaza AI, Cobb SA, Melrose HL, Behrouz B, Keeling BH,   Received: 15-07-2014; Accepted: 05-09-2014




















            126                                             Neuroimmunol Neuroinflammation | Volume 1 | Issue 3 | December 2014
   127   128   129   130   131   132   133   134   135   136   137