Mapping self-reports of working memory deficits to executive dysfunction in Fragile X Mental Retardation 1 (FMR1) gene premutation carriers asymptomatic for FXTAS

Brain and Cognition

Volumn 73, Issue 3, 2010, Pages 236-243

  Kogan, Cary S ^a   Cornish, Kim M ^b  

^a UNIVERSITY OF OTTAWA   (Canada)

^b MONASH UNIVERSITY   (Australia)

Author keywords

Brown ADD Rating Scales; Fragile X Syndrome; Fragile X Tremor and Ataxia Syndrome; Premutation status; Working memory

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

ADULT; AGED; AMNESIA; ARTICLE; ATAXIA; BRAIN DYSFUNCTION; BROWN ATTENTION DEFICIT DISORDER RATING SCALE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; FRAGILE X SYNDROME; FRAGILE X TREMOR AND ATAXIA SYNDROME; GENE MUTATION; HETEROZYGOTE; HIGH RISK PATIENT; HUMAN; INTELLECT; MALE; PRIORITY JOURNAL; RATING SCALE; SELF REPORT; WORKING MEMORY;

ADOLESCENT; ADULT; AGED; ATAXIA; COGNITION DISORDERS; EXECUTIVE FUNCTION; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; MALE; MEMORY DISORDERS; MEMORY, SHORT-TERM; MIDDLE AGED; MUTATION; SELF-ASSESSMENT; TREMOR; YOUNG ADULT;

EID: 77954029330     PISSN: 02782626     EISSN: 10902147     Source Type: Journal    
DOI: 10.1016/j.bandc.2010.05.008     Document Type: Article

References (47)

1. Albert M.S. Cognitive and neurobiologic markers of early Alzheimer disease. Proceedings of the National Academy of Science USA 1996, 93(24):13547-13551.
2. Baddeley A. The episodic buffer: A new component of working memory?. Trends in Cognitive Science 2000, 4:417-423.
3. Benton A.L., Varney N.R., Hamsher K. Visuospatial judgment: A clinical test. Archives of Neurology 1978, 35(6):364-367.
4. Bourgeois J.A., Coffey S.M., Rivera S.M., Hessl D., Gane L.W., Tassone F., et al. A review of fragile X premutation disorders: Expanding the psychiatric perspective. Journal of Clinical Psychiatry 2009, 70(6):852-862.
5. Brega A.G., Goodrich G., Bennett R.E., Hessl D., Engle K., Leehey M.A., et al. The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome. Journal of Clinical and Experimental Neuropsychology 2008, 30(8):853-869.
6. Brown T.E. Brown attention-deficit disorder scales for children and adolescents 2001, Psychological Corporation, San Antonio, TX.
7. Burgess P.W., Shallice T. The Hayling and Brixton Tests 1997, Thames Valley Test Company Bury St. Edmonds, England.
8. Burke S.N., Barnes C.A. Neural plasticity in the ageing brain. Nature Reviews Neuroscience 2006, 7(1):30-40.
9. Collett B.R., Ohan J.L., Myers K.M. Ten-year review of rating scales. V: Scales assessing attention-deficit/hyperactivity disorder. Journal of the American of the Academy of Child and Adolescent Psychiatry 2003, 42(9):1015-1037.
10. Cornish K.M., Kogan C.S., Li L., Turk J., Jacquemont S., Hagerman R.J. Lifespan changes in working memory in fragile X premutation males. Brain and Cognition 2009, 69:551-558.
11. Cornish K., Kogan C., Turk J., Manly T., James N., Mills A., et al. The emerging fragile X premutation phenotype: Evidence from the domain of social cognition. Brain and Cognition 2005, 57:53-60.
12. Cornish K.M., Li L., Kogan C.S., Jacquemont S., Turk J., Dalton A., et al. Age-dependent cognitive changes in carriers of the fragile X syndrome. Cortex 2008, 44:628-636.
13. Grigsby J., Brega A.G., Engle K., Leehey M.A., Hagerman R.J., Tassone F., et al. Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome. Neuropsychology 2008, 22:48-60.
14. Grigsby J., Brega A.G., Jacquemont S., Loesch D.Z., Leehey M.A., Goodrich G.K., et al. Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS). Journal of Neurological Sciences 2006, 248(1-2):227-233.
15. Grigsby J., Leehey M.A., Jacquemont S., Brunberg J.A., Hagerman R.J., Wilson R., et al. Cognitive impairment in a 65-year-old male with the fragile X-associated tremor-ataxia syndrome (FXTAS). Cognitive Behavioral Neurology 2006, 19(3):165-171.
16. Hagerman P.J. The fragile X prevalence paradox. Journal of Medical Genetics 2008, 45:498-499.
17. Hagerman P.J., Hagerman R.J. The fragile-X premutation: A maturing perspective. American Journal of Human Genetics 2004, 74(5):805-816.
18. Hagerman P.J., Hagerman R.J. Fragile X-associated tremor/ataxia syndrome - an older face of the fragile X gene. Nature Clinical Practice Neurology 2007, 3:107-112.
19. Hagerman R.J., Leavitt B.R., Farzin F., Jacquemont S., Greco C.M., Brunberg J.A., et al. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. American Journal of Human Genetics 2004, 74(5):1051-1056.
20. Hagerman R.J., Leehey M., Heinrichs W., Tassone F., Wilson R., Hills J., et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001, 57:127-130.
21. Hay D.A. Fragile X - A challenge to models of the mind and to best clinical practice. Cortex 2008, 44:626-627.
22. Hessl D., Rivera S., Koldewyn K., Cordeiro L., Adams J., Tassone F., et al. Amygdala dysfunction in men with the fragile X premutation. Brain 2007, 130(Pt 2):404-416.
23. Hunter J.E., Abramowitz A., Rusin M., Sherman S.L. Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature. Genetics in Medicine 2009, 11(2):79-89.
24. Hunter J.E., Allen E.G., Abramowitz A., Rusin M., Leslie M., Novak G., et al. No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50. American Journal of Human Genetics 2008, 83(6):692-702.
25. Jacquemont S., Farzin F., Hall D., Leehey M., Tassone F., Gane L., et al. Aging in individuals with the FMR1 mutation. American Journal of Mental Retardation 2004, 109:154-164.
26. Jacquemont S., Hagerman R.J., Leehey M., Grigsby J., Zhang L., Brunberg J.A., et al. Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates. American Journal of Human Genetics 2003, 72:869-878.
27. Karmon Y., Gadoth N. Fragile X associated tremor/ataxia syndrome (FXTAS) with dementia in a female harbouring FMR1 premutation. Journal of Neurology, Neurosurgery and Psychiatry 2008, 79(6):738-739.
28. Kessler R.C., Adler L., Barkley R., Biederman J., Conners C.K., Demler O., et al. The prevalence and correlates of adult ADHD in the United States: Results from the National Comorbidity Survey Replication. American Journal of Psychiatry 2006, 163(4):716-723.
29. Kogan C.S., Boutet I., Cornish K., Zangenehpour S., Mullen K.T., Holden J.J., et al. Differential impact of the FMR1 gene on visual processing in fragile X syndrome. Brain 2004, 127(3):591-601.
30. Kogan C.S., Turk J., Hagerman R.J., Cornish K.M. Impact of the fragile X mental retardation 1 (FMR1) gene premutation on neuropsychiatric functioning in adult males without fragile X-associated tremor/Ataxia syndrome: A controlled study. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2008, 147B(6):859-872.
31. Koldewyn K., Hessl D., Adams J., Tassone F., Hagerman P.J., Hagerman R.J., et al. Reduced hippocampal activation during recall is associated with elevated FMR1 mRNA and psychiatric symptoms in men with the fragile X premutation. Brain Imaging and Behavior 2008, 2(2):105-116.
32. Lanfranchi S., Cornoldi C., Drigo S., Vianello R. Working memory in individuals with fragile X syndrome. Child Neuropsychology 2009, 15:105-119.
33. Leh S.E., Petrides M., Strafella A.P. The neural circuitry of executive functions in healthy subjects and Parkinson's disease. Neuropsychopharmacology 2010, 35(1):70-85.
34. Loesch D.Z., Bui Q.M., Grigsby J., Butler E., Epstein J., Huggins R.M., et al. Effect of the fragile X status categories and the fragile X mental retardation protein levels on executive functioning in males and females with fragile X. Neuropsychology 2003, 17:646-657.
35. Loesch D.Z., Bui Q.M., Huggins R.M., Mitchell R.J., Hagerman R.J., Tassone F. Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats. Journal of Medical Genetics 2007, 44(3):200-204.
36. Loesch D.Z., Khaniani M.S., Slater H.R., Rubio J.P., Bui Q.M., Kotschet K., et al. Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism. Clinical Genetics 2009, 76(5):471-476.
37. Moore C.J., Daly E.M., Schmitz N., Tassone F., Tysoe C., Hagerman R.J., et al. A neuropsychological investigation of male premutation carriers of fragile X syndrome. Neuropsychologia 2004, 42:1934-1947.
38. Munir F., Cornish K.M., Wilding J. A neuropsychological profile of attention deficits in young males with fragile X syndrome. Neuropsychologia 2000, 38(9):1261-1270.
39. Schillerstrom J.E., Horton M.S., Royall D.R. The impact of medical illness on executive function. Psychosomatics 2005, 46(6):508-516.
40. Sevin M., Kutalik Z., Bergmann S., Vercelletto M., Renou P., Lamy E., et al. The penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation. Journal of Medical Genetics 2009, 46(12):818-824.
41. Tassone F., Adams J., Berry-Kravis E.M., Cohen S.S., Brusco A., Leehey M.A., et al. CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS). American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2007, 144B(4):566-569.
42. Tassone F., Hagerman R.J., Chamberlain W.D., Hagerman P.J. Transcription of the FMR1 gene in individuals with fragile X syndrome. American Journal of Medical Genetics 2000, 97:195-203.
43. Tassone F., Hagerman R.J., Taylor A.K., Gane L.W., Godfrey T.E., Hagerman P.J. Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome. American Journal of Human Genetics 2000, 66:6-15.
44. Trenerry M.R., Crosson B., DeBoe J., Leber W.R. Stroop neuropsychological screening test manual 1989, Psychological Assessment Resources Inc., USA.
45. Van der Molen M.J., Huizinga M., Huizinga H.M., Ridderinkhof K.R., Van der Molen M.W., Hamel B.J., et al. Profiling fragile X syndrome in males: Strength and weaknesses in cognitive abilities. Research in Developmental Disabilities 2010, 31(2):426-439.
46. Wechsler D. Wechsler memory scale 1997, The Psychological Corporation, San Antonio, TX. 3rd ed.
47. Wechsler D. Wechsler abbreviated scale of intelligence 1999, The Psychological Corporation, San Antonio, TX.