Clinical and neuroimaging study of central nervous system in congenital myotonic dystrophy

Journal of Neurology

Volumn 246, Issue 3, 1999, Pages 186-192

  Martinello, F ^a   Piazza, A ^a   Pastorello, E ^a   Angelini, C ^a   Trevisan, C P ^a  

^a UNIVERSITY OF PADOVA   (Italy)

Author keywords

Brain MRI; Congenital myotonic dystrophy; DNA analysis; Mental retardation

Indexed keywords

ADOLESCENT; ARTHROGRYPOSIS; ARTICLE; BRAIN VENTRICLE DILATATION; CENTRAL NERVOUS SYSTEM; CHILD; CHROMOSOME 19; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; CLUBFOOT; COGNITIVE DEFECT; CORPUS CALLOSUM; DNA DETERMINATION; ELECTROENCEPHALOGRAM; FEEDING DISORDER; FEMALE; GENETIC ANALYSIS; HUMAN; HYPOPLASIA; INTELLIGENCE QUOTIENT; INTELLIGENCE TEST; LONGITUDINAL STUDY; MALE; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MYOTONIC DYSTROPHY; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; WHITE MATTER;

ADOLESCENT; ADULT; BRAIN; CEREBRAL VENTRICLES; CHILD; CHILD, PRESCHOOL; DILATATION, PATHOLOGIC; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION; MYOTONIC DYSTROPHY; SEQUENCE ANALYSIS, DNA;

EID: 0032895720     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004150050332     Document Type: Article

References (41)

1. 1. Abe K, Fujimura H, Toyooka K, et al (1994) Involvement of the central nervous system in myotonic dystrophy. J Neurol Sci 127:179-185
2. 2. Aicardi J, Conti D, Goutières F (1974) Les formes neonatales de la dystrophie myotonique de Steinert. J Neurol Sci 22:149-161
3. 3. Avrahami E, Katz A, Bornstein N, et al (1987) Computed tomographic findings of brain and skull in myotonic dystrophy. J Neurol Neurosurg Psychiatry 50:435-438
4. 4. Brook JD, McCurrach ME, Harley HG, et al (1992) 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 68:799-808
5. 5. Buxton J, Shelbourne P, Davies J, et al (1992) Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 335: 547
6. 6. Calderon R (1996) Myotonic dystrophy: a neglected cause of mental retardation. J Pediatr 68:423-431
7. 7. Censori B, Provinciali L, Danni M, et al (1994) Brain involvement in myotonic dystrophy: MRI features and their relationship to clinical and cognitive conditions. Acta Neurol Scand 90: 211-217
8. 8. Culebras A, Feldman RG, Merk FB (1973) Cytoplasmic inclusion bodies within neurons of the thalamus in myotonic dystrophy. J Neurol Sci 19: 319-329
9. 9. Damian MS, Schilling G, Bachmann G, et al (1994) White matter lesions and cognitive deficits: relevance of lesion pattern? Acta Neurol Scand 90: 430-436
10. 10. Dyken PR, Harper PS (1973) Congenital dystrophia myotonica. Neurology 23:465-473
11. 11. Fu YH, Pizzuti A, Fenwick RG, et al (1992) An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255:1256-1258
12. 12. Garcia-Alix A, Cabanas F, Morales C, et al (1991) Cerebral abnormalities in congenital myotonic dystrophy. Pediatr Neurol 7:28-32
13. 13. Harley HG, Brook JD, Rundle SA, et al (1992) Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 355: 545
14. 14. Harper PS (1989) Myotonic dystrophy, 2nd edn. Saunders, Philadelphia (USA)
15. 15. Harper PS, Dyken PL (1972) Early onset myotonic dystrophy. Evidence supporting a maternal environmental factor. Lancet 2:53-59
16. 16. Hashimoto T, Tajama H, Miyazaki M, et al (1995) Neuroimaging study of myotonic dystrophy: magnetic resonance imaging of the brain. Brain Dev 17:24-27
17. 17. Huber SD, Kissel JT, Shuttleworth EC, et al (1989) Magnetic resonance imaging and clinical correlates of intellectual impairment in myotonic dystrophy. Arch Neurol 46:536-540
18. 18. Jansen G, Willems P, Coerwinkel M, et al (1994) Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm. Am J Hum Genet 54: 575-585
19. 19. Karpati G, Carpenter S, Watters GU, et al (1973) Infantile myotonic dystrophy. Histochemical and electron microscope features in skeletal muscle. Neurology 23:1066-1077
20. 20. Martinello F, Trevisan CP, Menegazzo E, et al (1994) Evaluation of clinical and neuroradiological brain abnormalities in congenital myotonic dystrophy. Muscle Nerve [Suppl 1]:202
21. 21. Miaux Y, Chiras J, Eymard B, et al (1997) Cranial MRI findings in myotonic dystrophy. Neuroradiology 39: 166-170
22. 22. Mostacciuolo ML, Barbujani G, Armani M, et al (1987) Genetic epidemiology of myotonic dystrophy. Genet Epidemiol 4:289-298
23. 23. Novelli G, Gennarelli M, Menegazzo E, et al (1993) (CTG)n triplet mutation and phenotype manifestations in myotonic dystrophy patients. Biochem Med Metab Biol 50:85-92
24. 24. O'Brien T, Harper PS (1984) Course, prognosis and complications of childhood onset myotonic dystrophy. Dev Med Child Neurol 26:62-67
25. 25. Ohya K, Tachi N, Chiba S, et al (1994) Congenital myotonic dystrophy transmitted from an asymptomatic father with a DM-specific gene. Neurology 44:1958-1960
26. 26. Perini GI, Colombo G, Armani M, et al (1989) Intellectual impairment and cognitive evoked potentials in myotonic dystrophy. J Nerv Ment Dis 177: 750-754
27. 27. Refsum S, Engeset A, Lonnum A (1959) Pneumoencephalographic changes in dystrophia myotonica. Acta Psychiatr Scand 34: 98-99
28. 28. Roig M, Balliu PR, Navarro C, et al (1994) Presentation, clinical course and outcome of the congenital form of myotonic dystrophy. Pediatr Neurol 11: 208-213
29. 29. Salvatori S, Biral D, Furlan S, et al (1997) Evidence for localization of the myotonic dystrophy protein kinase to the terminal cisternae of the sarcoplasmic reticulum. J Muscle Res Cell Motil 18:429-440
30. 30. Shimokawa M, Ishiura S, Kameda N, et al (1997) Novel isoform of the protein kinase: gene product of myotonic dystrophy is localized in the sarcoplasmic reticulum of skeletal muscle. Am J Pathol 150:1285-1295
31. 31. Spranger M, Spranger S, Tischendorf M, et al (1997) Myotonic dystrophy: the role of large triplet repeat length in the development of mental retardation. Arch Neurol 54:251-254
32. 32. Steinert H (1909) Uber das Klinische und Anatomische Bild des Muskelschwunds der Myotoniker. Dtsch Z Nervenheilkd 37:38-104
33. 33. Swift TR, Igancino OJ, Dyken PR (1973) Neonatal dystrophia myotonica: electrophysiological studies. Am J Dis Child 129:734
34. 34. Tachi N, Kozuka N, Ohya K, et al (1996) CTG repeat size and histologic findings of skeletal muscle from patients with congenital muscular dystrophy. J Child Neurol 11:430-432
35. 35. Trevisan CP, Martinello F (1997) The brain involvement in congenital myotonic dystrophy: a review. Basic Appl Myol 7:339-344
36. 36. Trevisan CP, Martinello F, Ferruzza E, et al (1996) Brain alterations in the classical form of congenital muscular dystrophy: clinical and neuroimaging follow-up of 12 cases and correlation with the expression of merosin in muscle. Childs Nerv Syst 12:604-610
37. 37. Tsilfidis C, Mac Kenzie AE, Mettler G, et al (1992) Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nat Genet 1:192-195
38. 38. Tuikka RA, Laaksonen RK, Somer HVK (1993) Cognitive function in myotonic dystrophy: a follow-up study. Eur Neurol 33:436-441
39. 39. Vanier TM (1960) Dystrophia myotonica in childhood. BMJ 1:1284-1288
40. 40. Wesstrom G, Beusch J, Schollin J (1986) Congenital myotonic dystrophy: incidence, clinical aspects and early prognosis. Acta Paediatr Scand 78: 849-854
41. 41. Woodward JB, Heaton RK, Simon DB, et al (1982) Neuropsychological findings in myotonic dystrophy. J Clin Neuropsychol 4:335-342