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Research ArticlePEDIATRICS

MR Imaging Features in Marinesco-Sjögren Syndrome: Severe Cerebellar Atrophy Is Not an Obligatory Finding

Anke Reinhold, Ianina Scheer, Rüdiger Lehmann, Luitgard M. Neumann, Theodor Michael, Raymonda Varon and Arpad von Moers
American Journal of Neuroradiology May 2003, 24 (5) 825-828;
Anke Reinhold
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Ianina Scheer
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Rüdiger Lehmann
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Luitgard M. Neumann
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Theodor Michael
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Raymonda Varon
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Arpad von Moers
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References

  1. ↵
    Marinesco G, Draganesco S, Vasiliu D. Nouvelle maladie familiale caracterisée par une cataracte congénitale et un arret du développement somato-neuro-psychique. Encephale 1931;26:97–109
  2. ↵
    Sjögren T. Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia. Confinia Neurol 1950;10:293–308
  3. ↵
    Sasaki K, Suga K, Tsugawa S, et al. Muscle pathology in Marinesco-Sjögren syndrome: a unique ultrastructural feature. Brain Dev 1996;18:64–67
    CrossRefPubMedWeb of Science
  4. ↵
    Superneau D, Wertelecki W, Zellweger H, Bastian F. Myopathy in Marinesco-Sjogren Syndrome. Eur Neurol 1987;26:8–16
    PubMed
  5. ↵
    Torbergsen T, Stalberg E, Aasly J, Lindal S. Myopathy in Marinesco-Sjogren syndrome: an electrophysiological study. Acta Neurol Scand 1991;84:132–138
    CrossRefPubMed
  6. ↵
    Hakamada S, Sobue G, Watanabe K, Kumagai T, Hara K, Miyazaki S. Peripheral neuropathy in Marinesco-Sjogren syndrome. Brain Dev 1981;3:403–406
    PubMed
  7. ↵
    Zimmer C, Gosztonyi G, Cervos-Navarro J, von Moers A, Schröder J. Neuropathy with lysosomal changes in Marinesco-Sjögren syndrome: fine structural findings in skeletal muscle and conjunctiva. Neuropediatrics 1992;23:329–335
    PubMed
  8. ↵
    Müller-Felber W, Zafiriou D, Scheck R, et al. Marinesco Sjögren syndrome with rhabdomyolysis: a new subtype of the disease. Neuropediatrics 1998;29:97–101
    PubMed
  9. ↵
    Merlini L, Gooding R, Lochmüller H, et al. Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes. Neurology 2002;58:231–236
    Abstract/FREE Full Text
  10. ↵
    Tournev I, Kalaydjieva L, Youl B, al. e. Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan gypsies: clinical and electrophysiological observations. Ann Neurol 1999;45:742–750
    CrossRefPubMed
  11. ↵
    Angelicheva D, Tournev I, Dye D, Chandler D, Thomas P, Kalaydjieva L. Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter. Eur J Hum Genet 1999;7:560–566
    CrossRefPubMed
  12. ↵
    Aguglia U, Annesi G, Pasquinelli G, et al. Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome. Ann Neurol 2000;47:260–264
    CrossRefPubMedWeb of Science
  13. ↵
    Georgy B, Snow R, Brogdon B, Wertelecki W. Neuroradiologic findings in Marinesco-Sjögren syndrome. AJNR Am J Neuroradiol 1998;19:281–283
    Abstract
  14. ↵
    McLaughlin J, Pagon R, Weinberger E, Haas J. Marinesco-Sjögren syndrome: Clinical and magnetic resonance imaging features in three children. Dev Med Child Neurol 1996;38:636–644
    PubMedWeb of Science
  15. ↵
    Bromberg M, Junck L, Gebarski S, McLean M, Gilman S. The Marinesco-Sjogren syndrome examined by computed tomography, magnetic resonance, and 18F-2-fluoro-2-deoxy-D-glucose and positron emission tomography. Arch Neurol 1990;47:1239–1242
    CrossRefPubMed
  16. Farah S, Sabry M, Khuraibet A, et al. Marinesco-Sjögren syndrome in a Bedouin family. Acta Neurol Scand 1997;96:387–391
    PubMed
  17. ↵
    Ishikawa T, Kitoh H, Awaya A, Nonaka I. Rapid cataract formation in Marinesco-Sjögren syndrome. Pedriatr Neurol 1993;9:407–408
    CrossRefPubMed
  18. Williams T, Buchhalter J, Sussman M. Cerebellar dysplasia and unilateral cataract in Marinesco-Sjögren syndrome. Pediatr Neurol 1996;14:158–161
    CrossRefPubMedWeb of Science
  19. Komiyama A, Nonaka I, Hirayama K. Muscle pathology in Marinesco-Sjogren syndrome. J Neurol Sci 1989;89:103–113
    CrossRefPubMed
  20. Katafuchi Y, Kosai K, Ohtaki E, et al. Cerebral cortex and brainstem involvement in Marinesco-Sjogren syndrome. Ann Neurol 1990;27:448–449
    CrossRefPubMed
  21. Walker P, Blitzer M, Shapira E. Marinesco-Sjögren syndrome: evidence for a lysosomal storage disorder. Neurology 1985;35:415–419
    Abstract/FREE Full Text
  22. Dotti M, Bardelli A, De Stefano N, et al. Optic atrophy in Marinesco-Sjogren syndrome: an additional ocular feature—report of three cases in two families. Ophtalmic Pediatr Genet 1993;14:5–7
  23. ↵
    Shimizu T, Matsuishi T, Yamashita Y, Koga Y. Mariensco-Sjogren syndrome: can the diagnosis be made prior to cataract formation? Muscle Nerve 1997;20:909–910
    PubMed
  24. ↵
    Ultmann M, Siegel S, Hirsch W, Finegold D, Foley T. Pituitary stalk and ectopic hyperintens T1 signal on magnetic resonance imaging: implications for anterior pituitary dysfunction. Am J Disease Child 1993;147:647–652
    CrossRefPubMed
  25. ↵
    Abrahams J, Trefelner E, Boulware S. Idiopathic growth hormone deficiency: MR findings in 35 patients. AJNR Am J Neuroradiol 1991;12:155–160
    Abstract/FREE Full Text
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American Journal of Neuroradiology: 24 (5)
American Journal of Neuroradiology
Vol. 24, Issue 5
1 May 2003
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Anke Reinhold, Ianina Scheer, Rüdiger Lehmann, Luitgard M. Neumann, Theodor Michael, Raymonda Varon, Arpad von Moers
MR Imaging Features in Marinesco-Sjögren Syndrome: Severe Cerebellar Atrophy Is Not an Obligatory Finding
American Journal of Neuroradiology May 2003, 24 (5) 825-828;

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MR Imaging Features in Marinesco-Sjögren Syndrome: Severe Cerebellar Atrophy Is Not an Obligatory Finding
Anke Reinhold, Ianina Scheer, Rüdiger Lehmann, Luitgard M. Neumann, Theodor Michael, Raymonda Varon, Arpad von Moers
American Journal of Neuroradiology May 2003, 24 (5) 825-828;
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  • SIL1, a causative cochaperone gene of Marinesco-Sjogren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex
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