Cranial magnetic resonance imaging in genetically proven myotonic dystrophy type 1 and 2

Journal of Neurology

Volumn 251, Issue 6, 2004, Pages 710-714

  Kornblum, Cornelia ^a   Reul, Jürgen ^b   Kress, Wolfram ^c   Grothe, Christoph ^a   Amanatidis, Niki ^a   Klockgether, Thomas ^a   Schröder, Rolf ^a  

^a UNIVERSITY OF BONN   (Germany)

^b Medizinischen Klinik Bonn   (Germany)

^c UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

Brain magnetic resonance imaging; Myotonic dystrophy; Proximal myotonic myopathy (PROMM)

Indexed keywords

ADULT; AGED; ARTICLE; BRAIN ATROPHY; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENETIC ANALYSIS; GENETIC ASSOCIATION; HISTOPATHOLOGY; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MOLECULAR GENETICS; MYOTONIC DYSTROPHY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; WHITE MATTER;

EID: 3042631047     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00415-004-0408-1     Document Type: Article

References (23)

1. Abe K, Fujimura H, Soga F (1998) The fluid-attenuated inversion-recovery pulse sequence in assessment of central nervous system involvement in myotonic dystrophy. Neuroradiology 40:32-35
2. Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, Schneider C, Koch MC, Beilman GJ, Harrison AR, Dalton JC, Ranum LP (2003) Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology 60:657-664
3. Eger K, Schulte-Mattler WJ, Zierz S (1997) [Proximal myotonic myopathy (PROMM). Clinical variability within a family]. Nervenarzt 68:839-844
4. Finsterer J (2002) Myotonic dystrophy type 2. Eur J Neurol 9:441-447
5. Glantz RH, Wright RB, Huckman MS, Garron DC, Siegel IM (1988) Central nervous system magnetic resonance imaging findings in myotonic dystrophy. Arch Neurol 45:36-37
6. Huber SJ, Kissel JT, Shuttleworth EC, Chakeres DW, Clapp LE, Brogan MA (1989) Magnetic resonance imaging and clinical correlates of intellectual impairment in myotonic dystrophy. Arch Neurol 46:536-540
7. Hund E, Jansen O, Koch MC, Ricker K, Fogel W, Niedermaier N, Otto M, Kuhn E, Meinck HM (1997) Proximal myotonic myopathy with MRI white matter abnormalities of the brain. Neurology 48:33-37
8. Kassubek J, Juengling FD, Hoffmann S, Rosenbohm A, Kurt A, Jurkat-Rott K, Steinbach P, Wolf M, Ludolph AC, Lehmann-Horn F, Lerche H, Weber YG (2003) Quantification of brain atrophy in patients with myotonic dystrophy and proximal myotonic myopathy: a controlled 3-dimensional magnetic resonance imaging study. Neurosci Lett 348(2):73-76
9. Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LP (2001) Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 293:864-867
10. Meola G (2000) Clinical and genetic heterogeneity in myotonic dystrophies. Muscle Nerve 23:1789-1799
11. Meola G, Sansone V, Marinou K, Cotelli M, Moxley RT III, Thornton CA, De Ambroggi L (2002) Proximal myotonic myopathy: a syndrome with a favourable prognosis? J Neurol Sci 193:89-96
12. Meola G, Sansone V, Perani D, Colleluori A, Cappa S, Cotelli M, Fazio F, Thornton CA, Moxley RT (1999) Reduced cerebral blood flow and impaired visual-spatial function in proximal myotonic myopathy. Neurology 53:1042-1050
13. Meola G, Sansone V, Radice S, Skradski S, Ptacek L (1996) A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies. Neuromuscul Disord 6:143-150
14. Miaux Y, Chiras J, Eymard B, Lauriot-Prevost MC, Radvanyi H, Martin-Duverneuil N, Delaporte C (1997) Cranial MRI findings in myotonic dystrophy. Neuroradiology 39:166-170
15. Ogata A, Terae S, Fujita M, Tashiro K (1998) Anterior temporal white matter lesions in myotonic dystrophy with intellectual impairment: an MRI and neuropathological study. Neuroradiology 40:411-415
16. Ranum LP, Rasmussen PF, Benzow KA, Koob MD, Day JW (1998) Genetic mapping of a second myotonic dystrophy locus. Nat Genet 19:196-198
17. Ricker K, Koch MC, Lehmann-Horn F, Pongratz D, Otto M, Heine R, Moxley RT III (1994) Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 44:1448-1452
18. Ricker K, Koch MC, Lehmann-Horn F, Pongratz D, Speich N, Reiners K, Schneider C, Moxley RT III (1995) Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy. Arch Neurol 52:25-31
19. Schneider C, Reiners K, Toyka KV (2001) [Myotonic dystrophy (DM/Curschmann-Steinert disease) and proximal myotonic myopathy (PROMM/Ricker syndrome). Myotonic muscle diseases with multisystemic manifestations]. Nervenarzt 72:618-624
20. Sergeant N, Sablonniere B, Schraen-Maschke S, Ghestem A, Maurage CA, Wattez A, Vermersch P, Delacourte A (2001) Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1. Hum Mol Genet 10:2143-2155
21. Thornton CA, Griggs RC, Moxley RT III (1994) Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol 35:269-272
22. Udd B, Krahe R, Wallgren-Pettersson C, Falck B, Kalimo H (1997) Proximal myotonic dystrophy-a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes? Neuromuscul Disord 7:217-228
23. Udd B, Meola G, Krahe R, Thornton C, Ranum L, Day J, Bassez G, Ricker K (2003) Report of the 115th ENMC workshop: DM2/PROMM and other myotonic dystrophies. 3rd Workshop, 14-16 February 2003, Naarden, The Netherlands. Neuromuscul Disord 13:589-596