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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.

Abstract

Salla disease (SD) is a disorder caused by defective storage of free sialic acid and results from mutations in the SLC17A5 gene. Early developmental delay of motor functions, and later cognitive skills, is typical. We describe a developmental profile of an unusual homozygous patient, who harboured the SallaFIN (p.R39C) mutation gene. The study involved neurological examination, neuropsychological investigation, and brain imaging. The neurocognitive findings were atypical in comparison with other patients with the SallaFIN mutation. Interestingly, there was no deterioration in the patient's neurological condition during adulthood. Her neurocognitive skills were remarkably higher than those of other patients with a conventional phenotype of SD. Our results suggest that the phenotype of SD is broad. Unidentified genetic or environmental variation might explain the unique SD type of this case.