High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism

Neurobiology of Aging

Volumn 36, Issue 5, 2015, Pages 2004.e9-2004.e15

  Nishioka, Kenya ^a   Oyama, Genko ^a   Yoshino, Hiroyo ^b   Li, Yuanzhe ^a   Matsushima, Takashi ^a   Takeuchi, Chisen ^c   Mochizuki, Yoko ^c   Mori Yoshimura, Madoka ^d   Murata, Miho ^d   Yamasita, Chikara ^e   Nakamura, Norimichi ^e   Konishi, Yohei ^f   Ohi, Kazuki ^g   Ichikawa, Keiji ^g   Terada, Tatsuhiro ^h   Obi, Tomokazu ^h   Funayama, Manabu ^a,b   Saiki, Shinji ^a   Hattori, Nobutaka ^a,b  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b JUNTENDO UNIVERSITY   (Japan)

^c Tokyo Metropolitan Kita Medical and Rehabilitation Center for the Handicapped   (Japan)

^d NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^e KYUSHU UNIVERSITY HOSPITAL   (Japan)

^f Department of Oral and Maxillofacial Surgery   (Japan)

^g HYOGO PREFECTURAL AMAGASAKI GENERAL MEDICAL CENTER   (Japan)

^h SHIZUOKA INSTITUTE OF EPILEPSY AND NEUROLOGICAL DISORDERS   (Japan)

Author keywords

Beta propeller protein associated neurodegeneration; Intellectual disability; Neurodegeneration with brain iron accumulation; Parkinsonism; WDR45

Indexed keywords

PANTOTHENATE KINASE 2; CARRIER PROTEIN; WDR45 PROTEIN, HUMAN;

ADULT; ARTICLE; BETA PROPELLER PROTEIN ASSOCIATED NEURODEGENERATION; C19ORF12 GENE; CLINICAL ARTICLE; CLINICAL FEATURE; COASY GENE; CONTROLLED STUDY; EXON; FA2H GENE; FEMALE; GENE; GENE MUTATION; HETEROZYGOTE DETECTION; HUMAN; INTELLECTUAL IMPAIRMENT; JAPANESE (PEOPLE); NEUROAXONAL DYSTROPHY; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; PANK2 GENE; PARKINSONISM; PLA2G6 GENE; PREVALENCE; PRIORITY JOURNAL; RAB39B GENE; WDR45 GENE; ADOLESCENT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; COMPLICATION; GENETICS; INTELLECTUAL DISABILITY; IRON METABOLISM DISORDER; MALE; MIDDLE AGED; MUTATION; NEUROAXONAL DYSTROPHIES; NEURODEGENERATIVE DISEASES; ONSET AGE; PARKINSONIAN DISORDERS; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INTELLECTUAL DISABILITY; IRON METABOLISM DISORDERS; MALE; MIDDLE AGED; MUTATION; NEUROAXONAL DYSTROPHIES; NEURODEGENERATIVE DISEASES; PARKINSONIAN DISORDERS; YOUNG ADULT;

EID: 84933177521     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2015.01.020     Document Type: Article

References (21)

1. Behrends C., Sowa M.E., Gygi S.P., Harper J.W. Network organization of the human autophagy system. Nature 2010, 466:68-76.
2. Carrel L., Willard H.F. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 2005, 434:400-404.
3. Dusi S., Valletta L., Haack T.B., Tsuchiya Y., Venco P., Pasqualato S., Goffrini P., Tigano M., Demchenko N., Wieland T., Schwarzmayr T., Strom T.M., Invernizzi F., Garavaglia B., Gregory A., Sanford L., Hamada J., Bettencourt C., Houlden H., Chiapparini L., Zorzi G., Kurian M.A., Nardocci N., Prokisch H., Hayflick S., Gout I., Tiranti V. Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. Am. J. Hum. Genet. 2014, 94:11-22.
4. Eaton J.W., Qian M. Molecular bases of cellular iron toxicity. Free Radic. Biol. Med. 2002, 32:833-840.
5. Gregory A., Polster B.J., Hayflick S.J. Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J.Med. Genet. 2009, 46:73-80.
6. Haack T.B., Hogarth P., Kruer M.C., Gregory A., Wieland T., Schwarzmayr T., Graf E., Sanford L., Meyer E., Kara E., Cuno S.M., Harik S.I., Dandu V.H., Nardocci N., Zorzi G., Dunaway T., Tarnopolsky M., Skinner S., Frucht S., Hanspal E., Schrander-Stumpel C., Heron D., Mignot C., Garavaglia B., Bhatia K., Hardy J., Strom T.M., Boddaert N., Houlden H.H., Kurian M.A., Meitinger T., Prokisch H., Hayflick S.J. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am. J. Hum. Genet. 2012, 91:1144-1149.
7. Hartig M.B., Iuso A., Haack T., Kmiec T., Jurkiewicz E., Heim K., Roeber S., Tarabin V., Dusi S., Krajewska-Walasek M., Jozwiak S., Hempel M., Winkelmann J., Elstner M., Oexle K., Klopstock T., Mueller-Felber W., Gasser T., Trenkwalder C., Tiranti V., Kretzschmar H., Schmitz G., Strom T.M., Meitinger T., Prokisch H. Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. Am. J. Hum. Genet. 2011, 89:543-550.
8. Hayflick S.J., Kruer M.C., Gregory A., Haack T.B., Kurian M.A., Houlden H.H., Anderson J., Boddaert N., Sanford L., Harik S.I., Dandu V.H., Nardocci N., Zorzi G., Dunaway T., Tarnopolsky M., Skinner S., Holden K.R., Frucht S., Hanspal E., Schrander-Stumpel C., Mignot C., Heron D., Saunders D.E., Kaminska M., Lin J.P., Lascelles K., Cuno S.M., Meyer E., Garavaglia B., Bhatia K., de Silva R., Crisp S., Lunt P., Carey M., Hardy J., Meitinger T., Prokisch H., Hogarth P. β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain 2013, 136(Pt 6):1708-1717.
9. Henchcliffe C., Beal M.F. Mitochondrial biology and oxidative stress in Parkinson disease pathogenesis. Nat. Clin. Pract. Neurol. 2008, 4:600-609.
10. Hogarth P., Gregory A., Kruer M.C., Sanford L., Wagoner W., Natowicz M.R., Egel R.T., Subramony S.H., Goldman J.G., Berry-Kravis E., Foulds N.C., Hammans S.R., Desguerre I., Rodriguez D., Wilson C., Diedrich A., Green S., Tran H., Reese L., Woltjer R.L., Hayflick S.J. New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. Neurology 2013, 80:268-275.
11. Ichinose Y., Miwa M., Onohara A., Obi K., Shindo K., Saitsu H., Matsumoto N., Takiyama Y. Characteristic MRI findings in beta-propeller protein-associated neurodegeneration (BPAN). Neurol. Clin. Pract. 2014, 4:175-177.
12. Itakura E., Kishi-Itakura C., Koyama-Honda I., Mizushima N. Structures containing Atg9A and the ULK1 complex independently target depolarized mitochondria at initial stages of Parkin-mediated mitophagy. J.Cell Sci. 2012, 125(Pt 6):1488-1499.
13. Jenner P. Oxidative stress in Parkinson's disease. Ann. Neurol. 2003, 53(Suppl 3):S26-S36. discussion S-8.
14. Orsi A., Razi M., Dooley H.C., Robinson D., Weston A.E., Collinson L.M., Tooze S.A. Dynamic and transient interactions of Atg9 with autophagosomes, but not membrane integration, are required for autophagy. Mol. Biol. Cell 2012, 23:1860-1873.
15. Paisan-Ruiz C., Bhatia K.P., Li A., Hernandez D., Davis M., Wood N.W., Hardy J., Houlden H., Singleton A., Schneider S.A. Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann. Neurol. 2009, 65:19-23.
16. Rathore G.S., Schaaf C.P., Stocco A.J. Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration. Mov. Disord. 2014, 29:574-575.
17. Saitsu H., Nishimura T., Muramatsu K., Kodera H., Kumada S., Sugai K., Kasai-Yoshida E., Sawaura N., Nishida H., Hoshino A., Ryujin F., Yoshioka S., Nishiyama K., Kondo Y., Tsurusaki Y., Nakashima M., Miyake N., Arakawa H., Kato M., Mizushima N., Matsumoto N. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat. Genet. 2013, 45:445-449. 9e1.
18. Schneider S.A., Dusek P., Hardy J., Westenberger A., Jankovic J., Bhatia K.P. Genetics and pathophysiology of neurodegeneration with brain iron accumulation (NBIA). Curr. Neuropharmacol. 2013, 11:59-79.
19. Stirnimann C.U., Petsalaki E., Russell R.B., Muller C.W. WD40 proteins propel cellular networks. Trends Biochem. Sci. 2010, 35:565-574.
20. Verhoeven W.M., Egger J.I., Koolen D.A., Yntema H., Olgiati S., Breedveld G.J., Bonifati V., van de Warrenburg B.P. Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients. Parkinsonism Relat. Disord. 2014, 20:332-336.
21. Wilson G.R., Sim J.C., McLean C., Giannandrea M., Galea C.A., Riseley J.R., Stephenson S.E., Fitzpatrick E., Haas S.A., Pope K., Hogan K.J., Gregg R.G., Bromhead C.J., Wargowski D.S., Lawrence C.H., James P.A., Churchyard A., Gao Y., Phelan D.G., Gillies G., Salce N., Stanford L., Marsh A.P., Mignogna M.L., Hayflick S.J., Leventer R.J., Delatycki M.B., Mellick G.D., Kalscheuer V.M., D'Adamo P., Bahlo M., Amor D.J., Lockhart P.J. Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with alpha-synuclein pathology. Am. J. Hum. Genet. 2014, 95:729-735.