Dissecting the complexity of frontotemporal dementia: Genotypes, phenotypes, and phenocopies

Neurology

Volumn 69, Issue 2, 2007, Pages 129-130

  Klein, Christine ^a   Bonifati, Vincenzo ^b  

^a UNIVERSITY OF LÜBECK   (Germany)

^b ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

PROGRANULIN;

AMYOTROPHIC LATERAL SCLEROSIS; CHROMOSOME 17Q; DEGENERATIVE DISEASE; EDITORIAL; FRONTOTEMPORAL DEMENTIA; GENE FUNCTION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; MUTATIONAL ANALYSIS; PRIORITY JOURNAL;

CODON, NONSENSE; DEMENTIA; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MUTATION; PENETRANCE; PHENOTYPE;

EID: 34447326984     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000271881.91076.18     Document Type: Editorial

References (11)

1. Baker M, Mackenzie IR, Pickering-Brown SM, et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 2006;442:916-919.
2. Cruts M, Gijselinck I, van der Zee J, et al. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 2006;442:920-924.
3. Knibb JA, Kipps CM, Hodges JR. Frontotemporal dementia. Curr Opin Neurol 2006;19:565-571.
4. He Z, Bateman A. Progranulin (granulin-epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesis. J Mol Med 2003;81:600-612.
5. Neumann M, Sampathu DM, Kwong LK, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006;314:130-133.
6. Bruni AC, Momeni P, Bernardi L, et al. Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation. Neurology 2007;69:140-147.
7. Gass J, Cannon A, Mackenzie IR, et al. Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet 2006;15:2988-3001.
8. Snowden JS, Pickering-Brown SM, Mackenzie IR, et al. Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia. Brain. 2006;129(Pt 11):3091-3102.
9. Masellis M, Momeni P, Meschino W, et al. Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome. Brain. 2006;129(Pt 11):3115-3123.
10. Le Ber I, van der Zee J, Hannequin D, et al. Progranulin null mutations in both sporadic and familial frontotemporal dementia. Hum Mutat 2007 Apr 13 [Epub ahead of print].
11. Bronner IF, Rizzu P, Seelaar H, et al. Progranulin mutations in Dutch familial frontotemporal lobar degeneration. Eur J Hum Genet 2007;15:369-374.