An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease

Roberta Biancheri, E. Verbeek, A. Rossi, R. Gaggero, L. Roccatagliata, R. Gatti, Op van Diggelen, F. W. Verheijen, G. M S Mancini

Research output: Contribution to journalArticle

Abstract

The present study reports two Italian brothers affected by severe Salla disease (sialic acid storage disease), a slowly progressive autosomal recessive neurodegenerative disorder prevalent in the Finnish population. Mutations of the SLC17A5 gene, which encodes a protein called sialin, are the primary cause of both Salla disease and infantile sialic acid storage disease (ISSD), a clinically distinct severe disorder. All Finnish patients with Salla disease show a R39C mutation. Both patients showed moderate intellectual disability, spastic ataxic syndrome, hypomyelination and cerebellar atrophy on magnetic resonance imaging (MRI), and lysosomal storage, all typical of Salla disease. Mutation analysis of the SLC17A5 gene in the younger brother revealed no R39C mutation, but a 15-bp deletion in exon 6 on one of the alleles. This mutation is the same described in French-Canadian patients with ISSD. Salla disease must be suspected in patients with unexplained psychomotor retardation associated with ataxia and/or pyramidal symptoms, and MRI findings consistent with cerebral hypomyelination, irrespective of the patient's ethnic origin. A mutation screening based on R39C change does not exclude Salla disease outside Finland. Conversely, mutations found in ISSD can be expected, even in patients showing the Salla phenotype (e.g. symptoms at the milder end of the spectrum).

Original languageEnglish
Pages (from-to)443-447
Number of pages5
JournalClinical Genetics
Volume61
Issue number6
DOIs
Publication statusPublished - Jun 1 2002

Keywords

  • Infantile sialic acid storage disease (ISSD)
  • Magnetic resonance imaging
  • Molecular analysis
  • Salla disease

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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    Biancheri, R., Verbeek, E., Rossi, A., Gaggero, R., Roccatagliata, L., Gatti, R., van Diggelen, O., Verheijen, F. W., & Mancini, G. M. S. (2002). An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease. Clinical Genetics, 61(6), 443-447. https://doi.org/10.1034/j.1399-0004.2002.610608.x