Pediatric Neurology
Volume 40, Issue 2 , Pages 134-137 , February 2009

A 30-year Follow-Up of a Neuronal Ceroid Lipofuscinosis Patient With Mutations in CLN3 and Protracted Disease Course

  • Laura Åberg, MD, PhD

      Affiliations

    • Pediatric Neurology–Department of Pediatric and Adolescent Medicine, Helsinki University Central Hospital, University of Helsinki, Finland
    • Corresponding Author InformationCommunications should be addressed to: Dr. Åberg; Hakolahdentie 2 D 46; 00200 Helsinki; Finland.
    • ,
  • Leena Lauronen, MD, PhD

      Affiliations

    • BioMag Laboratory–HUSLAB, Helsinki University Central Hospital, University of Helsinki, Finland
    • Department of Clinical Neurophysiology–Hospital for Children and Adolescents, Helsinki University Central Hospital, University of Helsinki, Finland
    • ,
  • Janne Hämäläinen, MSc

      Affiliations

    • Helsinki Medical Imaging Center, Helsinki University Central Hospital, University of Helsinki, Finland
    • ,
  • Sara E. Mole, PhD

      Affiliations

    • MRC Laboratory for Molecular Cell Biology; Molecular Medicine Unit, Institute of Child Health; and Department of Genetics, Evolution and Environment, University College London, London, United Kingdom
    • ,
  • Taina Autti, MD, PhD

      Affiliations

    • Helsinki Medical Imaging Center, Helsinki University Central Hospital, University of Helsinki, Finland

Received 13 June 2008 ,Accepted 20 October 2008.

References 

  1. International Batten Disease Consortium. Isolation of a novel gene underlying Batten disease, CLN3. Cell. 1995;82:949–957
  2. Järvelä I, Lehtovirta M, Tikkanen R, Kyttälä A, Jalanko A. Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL) [Erratum in: Hum Mol Genet 1999;8:1585]. Hum Mol Genet. 1999;8:1091–1098
  3. CLN3 mutations. In: Mole SE, editor. NCL mutation database [Internet]. Accessed June 13, 2008. Available at: http://www.ucl.ac.uk/ncl/cln3.
  4. Järvelä I, Mitchison HM, Munroe PB, O'Rawe AM, Mole SE, Syvänen AC. Rapid diagnostic test for the major mutation underlying Batten disease. J Med Genet. 1996;33:1041–1042
  5. Kitzmuller C, Haines RL, Codlin S, Cutler DF, Mole SE. A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis. Hum Mol Genet. 2008;17:303–312
  6. Järvelä I, Autti T, Lamminranta S, Åberg L, Raininko R, Santavuori P. Clinical and magnetic resonance imaging findings in Batten disease: analysis of the major mutation (1.02-kb deletion). Ann Neurol. 1997;42:799–802
  7. Munroe PB, Mitchison HM, O'Rawe AM, et al. Spectrum of mutations in the Batten disease gene, CLN3. Am J Hum Genet. 1997;61:310–316
  8. Wisniewski KE, Zhong N, Kaczmarski W, et al. Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis. Ann Neurol. 1998;43:106–110
  9. Santavuori P, Vanhanen SL, Autti T. Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disorders. Eur J Paediatr Neurol. 2001;5(Suppl A):157–161
  10. Thompson PM, Hayashi KM, de Zubicaray G, et al. Dynamics of gray matter loss in Alzheimer's disease. J Neurosci. 2003;23:994–1005
  11. Autti T, Raininko R, Vanhanen SL, Santavuori P. MRI of neuronal ceroid lipofuscinosis: I. Cranial MRI of 30 patients with juvenile neuronal ceroid lipofuscinosis. Neuroradiology. 1996;38:476–482
  12. Lauronen L, Huttunen J, Kirveskari E, et al. Enlarged SI and SII somatosensory evoked responses in the CLN5 form of neuronal ceroid lipofuscinosis. Clin Neurophysiol. 2002;113:1491–1500
  13. Lauronen L, Heikkilä E, Autti T, et al. Somatosensory evoked magnetic fields from primary sensorimotor cortex in juvenile neuronal ceroid lipofuscinosis. J Child Neurol. 1997;12:355–360
  14. Autti T, Raininko R, Launes J, Nuutila A, Santavuori P. Jansky–Bielschowsky variant disease: CT, MRI, and SPECT findings. Pediatr Neurol. 1992;8:121–126
  15. Gachet Y, Codlin S, Hyams JS, Mole SE. btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3 regulates vacuole homeostasis. J Cell Sci. 2005;118:5525–5536
  16. Haines RL, Codlin S, Mole SE. The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. Dis Model Mech. In press.

PII: S0887-8994(08)00540-7

doi: 10.1016/j.pediatrneurol.2008.10.012

Pediatric Neurology
Volume 40, Issue 2 , Pages 134-137 , February 2009

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