FBXO7-R498X mutation: Phenotypic variability from chorea to early onset parkinsonism within a family

Parkinsonism and Related Disorders

Volumn 20, Issue 11, 2014, Pages 1253-1256

  Gündüz, Ayşegül ^a   Eken, Asli Gündoğdu ^b   Bilgiç, Başar ^a   Hanagasi, Hasmet A ^a   Bilgüvar, Kaya ^c   Günel, Murat ^c   Başak, A Nazli ^b   Ertan, Sibel ^a  

^a ISTANBUL UNIVERSITY   (Turkey)

^b BOGAZICI UNIVERSITY   (Turkey)

^c YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Chorea; FBXO7 mutation; Pallido pyramidal syndrome; PARK 15; Tic

Indexed keywords

ABNORMAL POSTURE; ADOLESCENT; ADULT; APATHY; ARTICLE; CASE REPORT; CHOREA; CONSANGUINITY; DISEASE SEVERITY; EXOME; FAMILY ASSESSMENT; FBXO7 GENE; FEMALE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; MUTATIONAL ANALYSIS; MUTATOR GENE; NUCLEOTIDE SEQUENCE; PARKINSONISM; PHENOTYPIC VARIATION; PROGENY; SIBLING; SPEECH DISORDER; TIC; TREMOR; YOUNG ADULT; GENETICS; HETEROZYGOTE; HOMOZYGOTE; MUTATION; PARKINSONIAN DISORDERS; PEDIGREE; PHENOTYPE;

F BOX PROTEIN; FBXO7 PROTEIN, HUMAN;

ADOLESCENT; CHOREA; F-BOX PROTEINS; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MUTATION; PARKINSONIAN DISORDERS; PEDIGREE; PHENOTYPE;

EID: 84908563678     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2014.07.016     Document Type: Article

References (9)

1. Shojaee S., Sina F., Banihosseini S.S., Kazemi M.H., Kalhor R., Shahidi G.A., et al. Genome-wide linkage analysis of a parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays. Am J Hum Genet 2008, 82:1375-1384. 10.1016/j.ajhg.2008.05.005.
2. Di Fonzo A., Dekker M.C., Montagna P., Baruzzi A., Yonova E.H., Correia Guedes L., et al. FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome. Neurology 2009, 72:240-245. 10.1212/01.wnl.0000338144.10967.2b.
3. Paisán-Ruiz C., Guevara R., Federoff M., Hanagasi H., Sina F., Elahi E., et al. Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Mov Disord 2010, 25:1791-1800. 10.1002/mds.23221.
4. Zhao T., De Graaff E., Breedveld G.J., Loda A., Severijnen L.A., Wouters C.H., et al. Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15). PLoS One 2011, 6:e16983. 10.1371/journal.pone.0016983.
5. Deng H., Liang H., Jankovic J. F-box only protein 7 gene in parkinsonian-pyramidal disease. JAMA Neurol 2013, 70:20-24. 10.1001/jamaneurol.2013.572.
6. Hanagasi H.A., Lees A., Johnson J.O., Singleton A., Emre M. Smoking-responsive juvenile-onset parkinsonism. Mov Disord 2007, 22:115-119.
7. Gómez-Garre P., Jesús S., Carrillo F., Cáceres-Redondo M.T., Huertas-Fernández I., Bernal-Bernal I., et al. Systematic mutational analysis of FBXO7 in a Parkinson's disease population from southern Spain. Neurobiol Aging 2014, 35:727.e5-727.e7. 10.1016/j.neurobiolaging.2013.09.011.
8. Lin C.H., Chen M.L., Lai T.T., Tai C.H., Wu R.M. Mutational analysis of FBXO7 gene in Parkinson's disease in a Taiwanese population. Neurobiol Aging 2013, 34:1713.e1-1713.e4. 10.1016/j.neurobiolaging.2012.12.023.
9. Burchell V.S., Nelson D.E., Sanchez-Martinez A., Delgado-Camprubi M., Ivatt R.M., Pogson J.H., et al. The Parkinson's disease-linked proteins Fbxo7 and parkin interact to mediate mitophagy. Nat Neurosci 2013, 16:1257-1265. 10.1038/nn.3489.