Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DMI)

Behavioral and Brain Functions

Volumn 2, Issue , 2006, Pages

  Winblad, Stefan ^a,c   Lindberg, Christopher ^b,c   Hansen, Stefan ^a  

^a UNIVERSITY OF GOTHENBURG   (Sweden)

^b UNIVERSITY OF GOTHENBURG   (Sweden)

^c SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADULT; ARITHMETIC; ARTICLE; ATTENTION; BLOOD ANALYSIS; CLINICAL ARTICLE; CLINICAL PRACTICE; COGNITIVE DEFECT; CONTROLLED STUDY; CORRELATION ANALYSIS; DEPTH PERCEPTION; DIAGNOSTIC PROCEDURE; DNA STRUCTURE; FEMALE; HUMAN; LYMPHOCYTE; MALE; MYOTONIC DYSTROPHY; NEUROPSYCHOLOGICAL TEST; PRIORITY JOURNAL; SCORING SYSTEM; STRUCTURE ANALYSIS;

EID: 33745081813     PISSN: 17449081     EISSN: None     Source Type: Journal    
DOI: 10.1186/1744-9081-2-16     Document Type: Article

References (35)

1. Meola G: Myotonic dystrophies. Curr Opin Neural 2000, 5:519-525.
2. Brunner HG, Jennekens FGI, Smeets HJM, de Visser M, Winzen AR: Myotonic dystrophy (Steinerts disease). In Diagnostic criteria for neuromuscular disorders 2nd edition. Edited by: Emery AEH. London: Royal Society of Medicine Press; 1994:27-29.
3. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church C, Aburatani H, et al.: Molecular basis of myotonic dystrophy: Expansion of a trinucleotid (CTG) repeat at the 3'end of a transcript encoding a protein kinase family member. Cell 1992, 68:799-808.
4. Day JW, Ranum LP: RNA pathogenesis of the myotonic dystrophies. Neuromuscul Disord 2005, 1:5-16.
5. Ashizawa T: Myotonic dystrophy as a brain disorder. Arch Neurol 1998, 3:291-293.
6. D'Angelo MG, Bresolin N: Report of the 95th European Neuromuscular Centre (ENMC) sponsored international workshop cognitive impairment in neuromuscular disorders, Naarden, The Netherlands, 13-15 July, 2001. Neuromuscul Disord 2003, 1:72-79.
7. Meola G, Sansone V, Perani D, Colleluori A, Cappa S, Cotelli M, et al: Reduced cerebral blood flow and impaired visual-spatial function in proximal myotonic dystrophy. Neurol 1999, 53:1042-1050.
8. Meola G, Sansone V, Perani D, Collelouri A, Cappa S, Dragoni C, et al: Executive dysfunction and avoidant personality trait in myotonic dystrophy type I (DM-I) and in proximal myotonic dystrophy (PROMM/DM-2). Neuromuscul Disord 2003, 10:813-821.
9. Rubinsztein JS, Rubinsztein JC, McKenna PJ, Goodburn S, Holland AJ: Mild myotonic dystrophy is associated with memory impairment in the context of normal intelligence. J Med Genet 1997, 3:229-33.
10. Damian MS, Bachmann G, Koch MC, Schilling G, Stoppler S, Dorndorf W: Brain disease and molecular analysis in myotonic dystrophy. Neuroreport 1994, 18:2549-2552.
11. Winblad S, Lindberg C, Hansen S: Temperament and character in patients with classical myotonic dystrophy type I (DM-I). Neuromuscul Disord 2005, 15:287-292.
12. Winblad S, Hellström P, Lindberg C, Hansen S: Facial emotion recognition in myotonic dystrophy type I correlates with CTG repeat expansion. J Neurol Neurosurg Psychiatry 2006, 2:219-223.
13. Marchini C, Lonigro R, Veriello L, Pellizarri L, Bergonzi P, Damante G, et al: Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy. Clin Genet 2000, 1:74-82.
14. Steyaert J, Umans S, Willekens D, Legius E, Pijkels E, de Die-Smulders C: A study of the cognitive and psychological profile in 16 children with congential or juvenile myotonic dystrophy. Clin Genet 1997,3:135-41.
15. Brooke MH: A clinician's view of neuromuscular diseases. 2nd edition. Baltimore: Williams & Willkins; 1986.
16. Nordenskiöld U, Grimby G: Grip force in patients with rheumatoid arthritis and fibromyalgia and in healthy subjects. A study with the Grippit instrument. Scand J Rheumatol 1993, 22:14-19.
17. Wechsler D: Wechsler Adult Intelligence Scale - Revised (WAIS-R). The Psychological Corporation 1982.
18. Tombaugh TN, Kozak J, Rees L: Normative data stratified by age and education for two measures of verbal fluency: FAS and animal naming. Arch Clin Neuropsychol 1999, 2-167-77.
19. Fastenau PS, Denburg NL, Hufford BJ: Adult norms for the Rey-Osterieth Complex Figure Test and for supplemental recognition and matching trials from the extended complex figure test. Clin Neuropsychol 1999, 1:30-47.
20. Schmidt M: Rey Auditory Verbal Learning Test. A Handbook. Western Psychological Services 1996.
21. Tombaugh T: Trail Making Test A and B: normative data stratified by age and education. Arch Clin Neuropsychol 2004, 19:203-214.
22. Mitrushina M, Boone KB, Razani J, D'Elia LF: Handbook of normative data for neuropsychological assessment. New York: Oxford University Press; 2005:108-133.
23. Grant DA, Berg EA, Nyman H: Wisconsin Card Sorting Test. WCST -revised and expanded. Psykologiforlaget 1996.
24. Modoni A, Silvestri G, Pomponi MG, Mangiola F, Tonali PA, Marra C: Characterization of the pattern of cognitive impairment in myotonic dystrophy type I. Arch Neurol 2004, 61:1943-1947.
25. Perini GI, Menegazzo E, Ermani M, Zara M, Gemma A, Feruzzi E, et al: Cognitive impairment and CTG (n) expansion in myotonic dystrophy patients. Biol Psychiatry 1999, 3:425-431.
26. Toga AW, Thompson PM: Genetics of brain structure and intelligence. Ann Rev Neurosci 2005, 28:1-23.
27. Bäckman L, Jones S, Berger AK, Laukka EJ, Small BJ: Multiple cognitive deficits during the transition to Alzheimer's disease. J Intern Med 2004, 3:195-204.
28. Martin GM: Genetic modulation of senescent phenotypes in Homo sapiens. Cell 2005, 4:523-532.
29. Wilson BA, Balleny H, Patterson K, Hodges JR: Myotonic dystrophy and progressive cognitive decline: a common condition or two separate problems. Cortex 2006, 1:113-121.
30. Tuikka RA, Laaksonen RK, Somer HV: Cognitive function in myotonic dystrophy: a follow up study. Eur Neurol 1993, 6:436-441.
31. Martorell L, Monckton DG, Gamez J, Baiget M: Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type I. Eur J Hum Genet 2000, 6:423-430.
32. Sergeant N, Sablonierre B, Schraen-Maschke S, Ghestem A, Maurage CA, Wattez A, et al: Dysregulation of human brain microtubule-associated mRNA mutation in myotonic dystrophy type I. Hum Mol Genet 2001, 10-2143-55.
33. Harper PS: Myotonic dystrophy. London PA: WB & Saunders; 2001.
34. Jaspert A, Fashold R, Grehl H, Claus D: Myotonic dystrophy: correlation of clinical symptoms with size of the CTG trinucleotide repeat. J Neurol 1995, 2:99-104.
35. Turnpenny P, Clark C, Kelly K: Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification. J Med Genet 1994, 4:300-305.