Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Neurological Medicine
Volume 2012 (2012), Article ID 615721, 4 pages
http://dx.doi.org/10.1155/2012/615721
Case Report

An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation

1Department of Neurology, Oulu University Hospital, P.O. Box 20, 90029 Oulu, Finland
2Department of Clinical Medicine, Neurology, University of Oulu, P.O. Box 5000, 90014 Oulu, Finland
3Department of Neurology, Institute of Clinical Medicine, University of Eastern Finland, P.O. Box 1627, 70211 Kuopio, Finland
4Department of Neurology, Kuopio University Hospital, P.O. Box 1777, 70211 Kuopio, Finland
5Medical Imaging Centre, Turku University Hospital, P.O. Box 52, 20521 Turku, Finland
6Department of Radiology, Oulu University Hospital, P.O. Box 20, 90029 Oulu, Finland
7Division of Psychology, Department of Behavioural Sciences and Philosophy, University of Turku, 20014 Turku, Finland

Received 6 October 2012; Accepted 30 October 2012

Academic Editors: J. Lazareff and I. L. Simone

Copyright © 2012 Liisa E. Paavola et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. P. Aula, S. Autio, and K. O. Raivio, “‘Salla disease’. A new lysosomal storage disorder,” Archives of Neurology, vol. 36, no. 2, pp. 88–94, 1979. View at Google Scholar · View at Scopus
  2. F. W. Verheijen, E. Verbeek, N. Aula et al., “A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases,” Nature Genetics, vol. 23, no. 4, pp. 462–465, 1999. View at Publisher · View at Google Scholar · View at Scopus
  3. P. Sonninen, T. Autti, T. Varho, M. Hämäläinen, and R. Raininko, “Brain involvement in Salla disease,” American Journal of Neuroradiology, vol. 20, no. 3, pp. 433–443, 1999. View at Google Scholar · View at Scopus
  4. T. Varho, M. Komu, P. Sonninen et al., “A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla disease,” Neurology, vol. 52, no. 8, pp. 1668–1672, 1999. View at Google Scholar · View at Scopus
  5. T. T. Varho, L. E. Alajoki, K. M. Posti et al., “Phenotypic spectrum of Salla disease, a free sialic acid storage disorder,” Pediatric Neurology, vol. 26, no. 4, pp. 267–273, 2002. View at Publisher · View at Google Scholar · View at Scopus
  6. L. Alajoki, T. Varho, K. Posti, P. Aula, and T. Korhonen, “Neurocognitive profiles in Salla disease,” Developmental Medicine and Child Neurology, vol. 46, no. 12, pp. 832–837, 2004. View at Publisher · View at Google Scholar · View at Scopus
  7. N. Aula, P. Salomäki, R. Timonen et al., “The spectrum of SLC17A5 mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation,” American Journal of Human Genetics, vol. 67, no. 4, pp. 832–840, 2000. View at Publisher · View at Google Scholar · View at Scopus
  8. D. Wechsler, Wechsler Intelligence Scale For Children-Revised. A Finnish Adaptation, Psykologien Kustannus Oy, Helsinki, Finland, 1984.
  9. D. Wechsler, Wechsler Intelligence Scale For Children-Third Edition, The Psychological Corporation, San Antonio, Tex, USA, 1991.
  10. M. Korkman, U. Kirk, and S. L. Kemp, NEPSY. Neuropsychological Assessment of Children, The Psychological Corporation, San Antonio, Tex, USA, 1997.
  11. M. B. Denckla, “Revised neurological examination for subtle signs,” Psychopharmacology Bulletin, vol. 21, no. 4, pp. 773–800, 1985. View at Google Scholar · View at Scopus
  12. A. J. Fawcett, R. I. Nicolson, and F. Maclagan, “Cerebellar tests differentiate between groups of poor readers with and without IQ discrepancy,” Journal of Learning Disabilities, vol. 34, no. 2, pp. 119–135, 2001. View at Google Scholar · View at Scopus
  13. E. N. Williams, S. G. Carroll, D. S. Reddihough, B. A. Philips, and M. P. Galea, “Investigation of the timed “Up & Go” test in children,” Developmental Medicine and Child Neurology, vol. 47, no. 8, pp. 518–524, 2005. View at Publisher · View at Google Scholar · View at Scopus
  14. N. Bayley, Bayley Scales of Infant Development, BSID, Psychological Corporation, New York, NY, USA, 2nd edition, 1993.
  15. C. W. Cotman, N. C. Berchtold, P. A. Adlard, and V. M. Perreau, “Exercise and brain,” in Molecular and Cellular Exercise Physiology, F. C. Mooren and K. Völker, Eds., pp. 331–341, Human Kinetics, Stanningley, UK, 2005. View at Google Scholar