Prion protein codon 129 polymorphism modifies age at onset of frontotemporal dementia with the C.709-1G>a progranulin mutation

Alzheimer Disease and Associated Disorders

Volumn 25, Issue 1, 2011, Pages 93-95

  Moreno, Fermín ^a,d   Alzualde, Ainhoa ^b,d   Camblor, Pablo Martínez ^c,e   Barandiaran, Myriam ^a,d   Van Deerlin, Vivianna M ^f   Gabilondo, Alazne ^a,d   Martí Massó, José F ^a,d   De Munain, Adolfo López ^a,d   Indakoetxea, Begoña ^a,d  

^a HOSPITAL DONOSTIA   (Spain)

^b BIODONOSTIA HEALTH RESEARCH INSTITUTE   (Spain)

^c Basque Government   (Spain)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

^e CIBER EPIDEMIOLOGÍA Y SALUD PÚBLICA CIBERESP   (Spain)

^f UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

APOE; frontotemporal dementia; frontotemporal lobar degeneration; prion protein gene; PRNP codon 129; progranulin

Indexed keywords

APOLIPOPROTEIN E; PRION PROTEIN; PROGRANULIN; TAU PROTEIN;

ADULT; ARTICLE; CLINICAL ARTICLE; CODON; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE; HOMOZYGOSITY; HUMAN; MALE; ONSET AGE; PGRN GENE; PHENOTYPE; PRIORITY JOURNAL;

AGE OF ONSET; FEMALE; FRONTOTEMPORAL DEMENTIA; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PRIONS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 79952195593     PISSN: 08930341     EISSN: None     Source Type: Journal    
DOI: 10.1097/WAD.0b013e3181eff695     Document Type: Article

References (10)

1. Gass J, Cannon A, Mackenzie IR, et al. Mutations in progranulin are a major cause of ubiquitin-positive fronto-temporal lobar degeneration. Hum Mol Genet. 2006;15: 2988-3001. (Pubitemid 44530703)
2. Rademakers R, Baker M, Gass J, et al. Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C→T (Arg493X) mutation: an international initiative. Lancet Neurol. 2007;6:857-868. (Pubitemid 47404986)
3. Benussi L, Ghidoni R, Pegoiani E, et al. Progranulin Leu271-LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide. Neurobiol Dis. 2009;33:379-385.
4. Beck J, Rohrer JD, Campbell T, et al. A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series. Brain. 2008;131:706-720. (Pubitemid 351294713)
5. Lopez de Munain A, Alzualde A, Gorostidi A, et al. Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings. Biol Psychiatry. 2008;63:946-952. (Pubitemid 351618388)
6. Moreno F, Indakoetxea B, Barandiaran M, et al. "Fronto- temporoparietal" dementia. Clinical phenotype associated with the c.709-1G>A PGRN mutation. Neurology. 2009;73: 1367-1374.
7. Blazquez L, Otaegui D, Saenz A, et al. Apolipoprotein E epsilon4 allele in familial and sporadic Parkinson's disease. Neurosci Lett. 2006;406:235-239. (Pubitemid 44311365)
8. Baker M, Litvan I, Houlden H, et al. Association of an extended haplotype in the tau gene with progressive supra-nuclear palsy. Hum Mol Genet. 1999;8:711-715. (Pubitemid 29139987)
9. Kovacs GG, Zerbi P, Voigtlander T, et al. The prion protein in human neurodegenerative disorders. Neurosci Lett. 2002;329: 269-272. (Pubitemid 35245339)
10. Isaacs AM, Powell C, Webb TE, et al. Lack of TAR-DNA binding protein-43 (TDP-43) pathology in human prion diseases. Neuropathol Appl Neurobiol. 2008;34:446-456.