An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation
Joint Authors
Remes, Anne M.
Sonninen, Pirkko H.
Majamaa, Kari
Kiviniemi, Vesa V.
Korhonen, Tapio T.
Paavola, Liisa E.
Source
Case Reports in Neurological Medicine
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-11-22
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Paavola, Liisa E.& Remes, Anne M.& Sonninen, Pirkko H.& Kiviniemi, Vesa V.& Korhonen, Tapio T.& Majamaa, Kari. 2012. An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation. Case Reports in Neurological Medicine،Vol. 2012, no. 2012, pp.1-4.
https://search.emarefa.net/detail/BIM-485342
Modern Language Association (MLA)
Paavola, Liisa E.…[et al.]. An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation. Case Reports in Neurological Medicine No. 2012 (2012), pp.1-4.
https://search.emarefa.net/detail/BIM-485342
American Medical Association (AMA)
Paavola, Liisa E.& Remes, Anne M.& Sonninen, Pirkko H.& Kiviniemi, Vesa V.& Korhonen, Tapio T.& Majamaa, Kari. An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation. Case Reports in Neurological Medicine. 2012. Vol. 2012, no. 2012, pp.1-4.
https://search.emarefa.net/detail/BIM-485342
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-485342