The speech and language FOXP2 gene modulates the phenotype of frontotemporal lobar degeneration

Journal of Alzheimer's Disease

Volumn 22, Issue 3, 2010, Pages 923-931

  Padovani, Alessandro ^a   Cosseddu, Maura ^a   Premi, Enrico ^a   Archetti, Silvana ^b   Papetti, Alice ^a   Agosti, Chiara ^a   Bigni, Barbara ^a   Cerini, Carlo ^a   Paghera, Barbara ^b   Bellelli, Giuseppe ^c   Borroni, Barbara ^a  

^a UNIVERSITY OF BRESCIA   (Italy)

^b BRESCIA CIVIL HOSPITAL   (Italy)

^c GERIATRIC RESEARCH GROUP   (Italy)

Author keywords

FOXP2; frontotemporal dementia; frontotemporal lobar degeneration; genetics; SPECT

Indexed keywords

TRANSCRIPTION FACTOR FOXP2;

ADDICTION; ADULT; AGED; ARTICLE; BRAIN PERFUSION; CINGULATE GYRUS; CONTROLLED STUDY; FEMALE; FRONTAL LOBE; FRONTOTEMPORAL DEMENTIA; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HUMAN; INFERIOR FRONTAL GYRUS; LANGUAGE ABILITY; LEFT INFERIOR FRONTAL GYRUS; MAJOR CLINICAL STUDY; MALE; MIDDLE FRONTAL GYRUS; NEUROIMAGING; NEUROPSYCHOLOGICAL TEST; PHENOTYPE; PRIORITY JOURNAL; PUTAMEN; SCORING SYSTEM; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; SPEECH;

EID: 78650659382     PISSN: 13872877     EISSN: None     Source Type: Journal    
DOI: 10.3233/JAD-2010-101206     Document Type: Article

References (26)

1. Lai CS, Fisher SE, Hurst JA, Vargha-Khadem F, Monaco AP (2001) A forkhead-domain gene is mutated in a severe speech and language disorder. Nature 413, 519-523.
2. Gopnik M (1990) Genetic basis of grammar defect. Nature 347, 26.
3. Fletcher CM, Prior MR (1990) The rule learning behavior of reading disabled and normal children as a function of task characteristics and instruction. J Exp Child Psychol 50, 39-58.
4. Vargha-Khadem F, Watkins KE, Price CJ, Ashburner J, Alcock KJ, Connelly A, Frackowiak RS, Friston KJ, Pembrey ME, Mishkin M, Gadian DG, Passingham RE (1998) Neural basis of an inherited speech and language disorder. Proc Natl Acad SciUSA 95, 12695-12700.
5. Fisher SE, Scharff C (2009) FOXP2 as a molecular window into speech and language. Trends Genet 25, 166-177.
6. Josephs KA (2008) Frontotemporal dementia and related disorders: deciphering the enigma. Ann Neurol 64, 4-14.
7. Neary D, Snowden JS, Gustafson L, Passant U, Stuss D, Black S, Freedman M, Kertesz A, Robert PH, Albert M, Boone K, Miller BL, Cummings J, Benson DF (1998) Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 51, 1546-1554.
8. Kertesz A, McMonagle P, Blair M, Davidson W, Munoz DG (2005) The evolution and pathology of frontotemporal dementia. Brain 128(Pt 9), 1996-2005.
9. Rademakers R, Rovelet-Lecrux A (2009) Recent insights into the molecular genetics of dementia. Trends Neurosci 32, 451461.
10. Borroni B, Ghezzi S, Agosti C, Archetti S, Fenoglio C, Galim- berti D, Scarpini E, Di Luca M, Bresolin N, Comi GP, Padovani A, Del Bo R (2008) Preliminary evidence that VEGF genetic variability confers susceptibility to frontotemporal lobar degeneration. Rejuvenation Res 11, 773-780.
11. Venturelli E, Villa C, Fenoglio C, Clerici F, Marcone A, Ghi- doni R, Cortini F, Scalabrini D, Gallone S, Rainero I, Man- delli A, Restelli I, Binetti G, Cappa S, Mariani C, Giordana MT, Bresolin N, Scarpini E, Galimberti D (2009) The NOS3 G894T(Glu298Asp) polymorphism is a risk factor for fron- totemporal lobar degeneration. Eur J Neurol 16, 37-42.
12. Lang AE (1994) Cortical-basal ganglionic degeneration. Neu- rodegenerative Disease. Calne DB. ed Philadelphia: Saunders, 877-894.
13. Folstein MF, Folstein SE, McHugh PR (1975) "Mini-mental state". A practical method for grading the cognitive state of patients for the clinician. JPsychiatr Res 12, 189-198.
14. Knopman DS, Kramer JH, Boeve BF, Caselli RJ, Graff- Radford NR, Mendez MF, Miller BL, Mercaldo N (2008) Development of methodology for conducting clinical trials in frontotemporal lobar degeneration. Brain 131(Pt 11), 29572968.
15. Babcock H, Levy L (1940) The measurement of mental efficiency of mental functioning (revised examination). Test and manual of directions. Chicago: CH Stoelting.
16. Bingham WC, Burke HR, Murray S (1966) Raven's progressive matrices: construct validity. J Psychol 62, 205-209.
17. Loring DW, Martin RC, Meador KJ, Lee GP (1990) Psychometric construction of the Rey-Osterrieth Complex Figure: methodological considerations and interrater reliability. Arch Clin Neuropsychol 5, 1-14.
18. Isaacs B, Kennie AT (1973) The Set test as an aid to the detection of dementia in old people.Br J Psychiatry 123, 467470.
19. Blackburn HL, Benton AL (1957) Revised administration and scoring of the digit span test. J Consult Psychol 21, 139-143.
20. De Renzi, Vignolo LA (1962) The token test: A sensitive test to detect receptive disturbances in aphasics. Brain 85, 665678.
21. Reitan RM (1958) Validity of the Trail Making Test as an indicator of organic brain damage. Percept Mot Skills 8, 271276.
22. Sunderland T, Hill JL, Mellow AM, Lawlor BA, Gunder- sheimer J, Newhouse PA, Grafman JH (1989) Clock drawing in Alzheimer's disease. A novel measure of dementia severity. J Am Geriatr Soc 37, 725-729.
23. De Renzi, Motti F, Nichelli P (1980) Imitating gestures. A quantitative approach to ideomotor apraxia. Arch Neurol 37, 6-10.
24. Cirillo LA, Barton MC (2008) Many forkheads in the road to regulation. Symposium on forkhead transcription factor networks in development, signalling and disease. EMBO Rep 9, 721-724.
25. Konopka G, Bomar JM, Winden K, Coppola G, Jonsson ZO, Gao F, Peng S, Preuss TM, Wohlschlegel JA, Geschwind DH (2009) Human-specific transcriptional regulation of CNS development genes by FOXP2. Nature 462, 213-217.
26. Heim S, Eickhoff SB, Amunts K (2008) Specialisation in Bro- ca's region for semantic, phonological, and syntactic fluency? Neuroimage 40, 1362-1368.