Cognitive impairment and (CTG)n expansion in myotonic dystrophy patients

Biological Psychiatry

Volumn 46, Issue 3, 1999, Pages 425-431

  Perini, Giulia I ^a   Menegazzo, Elisabetta ^a   Ermani, Mario ^a   Zara, Michele ^a   Gemma, Andrea ^a   Ferruzza, Emilia ^a   Gennarelli, Massimo ^b   Angelini, Corrado ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b SAN CAMILLO FORLANINI HOSPITAL   (Italy)

Author keywords

Cognitive deficits; Evoked potential CTG amplification; Myotonic dystrophy; Spinal muscle atrophy

Indexed keywords

PROTEIN KINASE;

ADOLESCENT; ADULT; ARTICLE; CHROMOSOME 19; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; ELECTROMYOGRAM; ENZYME ACTIVITY; FEMALE; GENE AMPLIFICATION; GENETIC ANALYSIS; HUMAN; HUMAN EXPERIMENT; INTELLIGENCE TEST; MALE; MUSCLE BIOPSY; MYOTONIC DYSTROPHY; NORMAL HUMAN; PRIORITY JOURNAL; SOUTHERN BLOTTING; SPINAL MUSCULAR ATROPHY;

ADOLESCENT; ADULT; BIOPSY; BLOTTING, SOUTHERN; COGNITION DISORDERS; ELECTROPHORESIS, AGAR GEL; EVENT-RELATED POTENTIALS, P300; EVOKED POTENTIALS, AUDITORY; FEMALE; HUMANS; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MYOTONIC DYSTROPHY; POLYMERASE CHAIN REACTION; SEVERITY OF ILLNESS INDEX; TRINUCLEOTIDE REPEAT EXPANSION; WECHSLER SCALES;

EID: 0032765607     PISSN: 00063223     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0006-3223(99)00016-5     Document Type: Article

References (33)

1. Bird T.D., Follett T.C., Griep E. Cognitive and personality function in myotonic muscular dystrophy. J Neurol Neurosurg Psychiatry. 46:1983;971-980.
2. Brook J.D., Mccurrach M.E., Harley H.G., Buckler A.J., Church B., Aburatani H., et al. Molecular basis of myotonic dystrophy Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member . Cell. 68:1992;799-800.
3. Broughton R., Stuss D., Kates M., Roberts J., Dunham W. Neuropsycological deficits and sleep in myotonic dystrophy. Can J Neurol. 17:1990;410-415.
4. Brumback R.A. Disturbed personality and psychosocial adjustment in myotonic dystrophy Relationship to intellectual/cognitive function and underlying affective disorder (depression) . Psychol Rep. 60:1987;783-796.
5. Censori B., Provinciali L., Danni M., Chiaramonti L., Marieotti M., Foschi N., et al. Brain involvement in myotonic dystrophy MRI features and their relationship to clinical and cognitive conditions . Acta Neurol Scand. 90:1994;211-217.
6. Chang L., Anderson T., Migneco O.A., Boone K., Mehringher C.M., Villaneueva-Meyer J., et al. Cerebral abnormalities in myotonic dystrophy Cerebral blood flow, magnetic resonance imaging, and neuropsychological tests . Arch Neurol. 50:1993;917-923.
7. Colombo G., Perini I., Miotti M.V., Armani M., Angelini C. Cognitive and psychiatric evaluation of 40 patients with myotonic dystrophy. Ital J Neurol Sci. 13:1992;53-58.
8. Damian M.S., Schilling G., Bachmann G., Simon C., Stoppler S., Dorndof W. White matter lesions and cognitive deficits Relevance of lesion pattern? Acta Neurol Scand. 90:1994;430-436.
9. Emery A.E.H. Population frequencies of inherited neuromuscular diseases a world survey. Neuromuscular Disord. 1:1991;19-29.
10. Endicott J., Spitzer R. A diagnostic interview The schedule for affective disorders and schizophrenia . Arch Gen Psychiatry. 35:1978;837-844.
11. Fiorelli M., Duboc D., Mazoyer B.M., Blin J., Eymard B., Fardeau L., et al. Decreased cerebral glucose utilization in myotonic dystrophy. Neurology. 42:1992;91-94.
12. Goodin D.S., Squires K.C., Starr A. Long latency event-related components of the auditory evoked potentials in dementia. Brain. 101:1978;635-648.
13. Harley H.G., Brook J.D., Rundle S.A., Crow S., Reardon W., Buckler A.J., et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature. 355:1992;545-546.
14. Jaspert A., Fahsold R., Grel H., Claus D. Myotonic dystrophy Corelation of clinical symptoms with the size of the CTG trinucleotide repeat . J Neurol. 242:1995;99-104.
15. Jennekens F.G.I., Ten Kate P., De Visser M. Diagnostic criteria for Duchenne and Becker muscular dystrophy and myotonic dystrophy. Neuromuscular Disord. 1:1991;389-391.
16. Malloy P., Mishra K.S., Adler S.H. Neuropsychological deficits in myotonic muscular dystrophy. J Neurol Neurosurg Psychiatry. 53:1990;1011-1013.
17. Mathieu J., De Braekeleer M., Prevost C., Boily C. Myotonic dystrophy Clinical assessment of muscular disability in an isolated population with presumed homogeneus mutation . Neurology. 42:1992;203-208.
18. Mielke R., Herholz K., Fink G., Ritter D., Heis W.D. Positron emision tomography in myotonic dystrophy. Psychiatric Res. 50:1993;93-99.
19. Mostacciuolo Ml, Barbujani G., Armani G., Danieli G.A., Angelini C. Genetic epidemiology of myotonic dystrophy. Genetic Epidemiology. 4:1987;289-298.
20. Munsat T.L. Workshop Report International SMA Collaboration. Neuromusc Disord. 1:1991;81.
21. Novelli G., Gennarelli M., Menegazzo E., Mostacciuolo M.L., Pizzuti A., Fattorini C., et al. Triplet mutation and phenotype manifestation in myotonic dystrophy patients. Byochem Med Metab Biol. 50:1993;85-92.
22. Perini G.I., Colombo G., Armani M., Pellegrini A., Ermani M., Miotti M., et al. Intellectual impairment and cognitive evoked potentials in myotonic dystrophy. J Nerv Ment Dis. 177:1989;750-754.
23. Perini G.I., Menegazzo E., Ferruzza E., Marcadella S., Angelini C., Chierichetti F., et al. Cognitive dysfunction and brain imaging (SPET, PET) in genetically defined myotonic dystrophy (DM) patients. 1977;6th World Congress of Biological Psychiatry, Nice, France.
24. Portwood M.M., Wicks J.J., Lieberman J.J., Duveneck M.J. Intellectual and cognitive function in adults with myotonic muscular dystrophy. Arch Phys Med Rehabil. 67:1986;299-303.
25. Rubinsztein J.S., Rubinsztein D.C., McKenna P.J., Goodburn S., Holland A.J. Mild myotonic dystrophy is associated with memory impairment in the context of normal general intelligence. Med Genetic. 34:1997;229-233.
26. Sinforiani E., Sandrini G., Martelli A. Cognitive and neuroradiological findings in myotonic dystrophy. Funct Neurol. 6:1991;377-384.
27. Trembath RC (1991): Genetic mechanisms and mental retardation, J Royal College Physicians of London, 28,2, 121-125.
28. Tsilfids C., Mackenzie A.E., Mettler G., Barcelo J., Korneluk R.G. Correlation between CTG trinucleotide repeat lenght and frequency of severe congenital myotonic dystrophy. Nature Genet. 1:1992;192-195.
29. Tuikka R.A., Laaksonen R.K., Somer H.V.K. Cognitive function in myotonic dystrophy A follow-up study . Eur Neurol. 33:1993;436-441.
30. Turpenny P., Clark C., Kelly K. Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification. J Med Genet. 31:1994;300-305.
31. Wechsler D. Wechsler Adult Intelligence Scale, Manual. 1955;Psychological Corporation, New York.
32. Whiting E.J., Waring J.D., Tamai K., Somerville M.J., Hincke M., Staines W., et al. Characterization of myotonic dystrophy kinase (DMK) protein in human and rodent muscle and central nervous tissue. Hum Mol Genet. 4:(6):1995;1063-1072.
33. Woodward J.B., Heaton R.K., Simon D.B., Ringel S.P. Neuropsychological findings in myotonic dystrophy. J Clin Neuropsychol. 4:1982;335-342.