Cargando…

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

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 t...

Descripción completa

Detalles Bibliográficos
Autores principales: Paavola, Liisa E., Remes, Anne M., Sonninen, Pirkko H., Kiviniemi, Vesa V., Korhonen, Tapio T., Majamaa, Kari
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3512220/
https://www.ncbi.nlm.nih.gov/pubmed/23227378
http://dx.doi.org/10.1155/2012/615721
_version_ 1782251688781938688
author Paavola, Liisa E.
Remes, Anne M.
Sonninen, Pirkko H.
Kiviniemi, Vesa V.
Korhonen, Tapio T.
Majamaa, Kari
author_facet Paavola, Liisa E.
Remes, Anne M.
Sonninen, Pirkko H.
Kiviniemi, Vesa V.
Korhonen, Tapio T.
Majamaa, Kari
author_sort Paavola, Liisa E.
collection PubMed
description 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.
format Online
Article
Text
id pubmed-3512220
institution National Center for Biotechnology Information
language English
publishDate 2012
publisher Hindawi Publishing Corporation
record_format MEDLINE/PubMed
spelling pubmed-35122202012-12-07 An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation Paavola, Liisa E. Remes, Anne M. Sonninen, Pirkko H. Kiviniemi, Vesa V. Korhonen, Tapio T. Majamaa, Kari Case Rep Neurol Med Case Report 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. Hindawi Publishing Corporation 2012 2012-11-22 /pmc/articles/PMC3512220/ /pubmed/23227378 http://dx.doi.org/10.1155/2012/615721 Text en Copyright © 2012 Liisa E. Paavola et al. https://creativecommons.org/licenses/by/3.0/ 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.
spellingShingle Case Report
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
title An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation
title_full An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation
title_fullStr An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation
title_full_unstemmed An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation
title_short An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation
title_sort unusual developmental profile of salla disease in a patient with the sallafin mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3512220/
https://www.ncbi.nlm.nih.gov/pubmed/23227378
http://dx.doi.org/10.1155/2012/615721
work_keys_str_mv AT paavolaliisae anunusualdevelopmentalprofileofsalladiseaseinapatientwiththesallafinmutation
AT remesannem anunusualdevelopmentalprofileofsalladiseaseinapatientwiththesallafinmutation
AT sonninenpirkkoh anunusualdevelopmentalprofileofsalladiseaseinapatientwiththesallafinmutation
AT kiviniemivesav anunusualdevelopmentalprofileofsalladiseaseinapatientwiththesallafinmutation
AT korhonentapiot anunusualdevelopmentalprofileofsalladiseaseinapatientwiththesallafinmutation
AT majamaakari anunusualdevelopmentalprofileofsalladiseaseinapatientwiththesallafinmutation
AT paavolaliisae unusualdevelopmentalprofileofsalladiseaseinapatientwiththesallafinmutation
AT remesannem unusualdevelopmentalprofileofsalladiseaseinapatientwiththesallafinmutation
AT sonninenpirkkoh unusualdevelopmentalprofileofsalladiseaseinapatientwiththesallafinmutation
AT kiviniemivesav unusualdevelopmentalprofileofsalladiseaseinapatientwiththesallafinmutation
AT korhonentapiot unusualdevelopmentalprofileofsalladiseaseinapatientwiththesallafinmutation
AT majamaakari unusualdevelopmentalprofileofsalladiseaseinapatientwiththesallafinmutation