Screening for MAPT and PGRN mutations in Korean patients with PSP/CBS/FTD

Parkinsonism and Related Disorders

Volumn 16, Issue 4, 2010, Pages 305-306

  Kim, Han Joon ^a   Jeon, Beom S ^a   Yun, Ji Young ^a   Seong, Moon Woo ^b   Park, Sung Sup ^c   Lee, Jee Young ^d  

^a Seoul National University College of Medicine   (South Korea)

^b National Cancer Center   (South Korea)

^c Seoul National University Hospital   (South Korea)

^d Inje University   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTINE; GENOMIC DNA; MESSENGER RNA; PROGRANULIN; TAU PROTEIN;

AGED; AMINO ACID SUBSTITUTION; BLOOD SAMPLING; CLINICAL ARTICLE; CONTROLLED STUDY; CORTICOBASAL DEGENERATION; EXON; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENE SEQUENCE; GENETIC ALGORITHM; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INTRON; KOREA; LETTER; MISSENSE MUTATION; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY;

ASIAN CONTINENTAL ANCESTRY GROUP; DNA MUTATIONAL ANALYSIS; FRONTOTEMPORAL DEMENTIA; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MOVEMENT DISORDERS; MUTATION; SUPRANUCLEAR PALSY, PROGRESSIVE; TAU PROTEINS;

EID: 77952888766     PISSN: 13538020     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2010.01.004     Document Type: Letter

References (5)

1. Josephs K. Frontotemporal dementia and related disorders: deciphering the enigma. Ann Neurol 2008, 64:4-14.
2. Brouwers N., Sleegers K., Engelborghs S., Maurer-Stroh S., Gijselinck I., van der Zee J., et al. Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease. Neurology 2008, 71:656-664.
3. Kim H.J., Seong M.W., Yun J.Y., Park S.S., Lee J.Y., Jeon B.S. Predicted pathogenic missense mutation of PGRN found in a normal control. Ann Neurol 2010, 10.1002/ana.21892.
4. Le Ber I., Camuzat A., Hannequin D., Pasquier F., Guedj E., Rovelet-Lecrux A., et al. Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Brain 2008, 131:732-746.
5. AD&FTD Mutation Database Available at:, [accessed 16.10.09]. http://www.molgen.ua.ac.be/FTDMutations/.