PMID- 12121352
OWN - NLM
STAT- MEDLINE
DCOM- 20030717
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 61
IP  - 6
DP  - 2002 Jun
TI  - An Italian severe Salla disease variant associated with a SLC17A5 mutation 
      earlier described in infantile sialic acid storage disease.
PG  - 443-7
AB  - 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).
FAU - Biancheri, R
AU  - Biancheri R
AD  - III Department of Paediatrics, G. Gaslini Institute, University of Genova, 
      Genova, Italy. roberta.biancheri@tin.it
FAU - Verbeek, E
AU  - Verbeek E
FAU - Rossi, A
AU  - Rossi A
FAU - Gaggero, R
AU  - Gaggero R
FAU - Roccatagliata, L
AU  - Roccatagliata L
FAU - Gatti, R
AU  - Gatti R
FAU - van Diggelen, Op
AU  - van Diggelen O
FAU - Verheijen, F W
AU  - Verheijen FW
FAU - Mancini, G M S
AU  - Mancini GM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - Adolescent
MH  - Alleles
MH  - Child
MH  - DNA Mutational Analysis
MH  - Genetic Variation
MH  - Humans
MH  - Italy
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Mutation
MH  - Psychomotor Disorders
MH  - Sequence Deletion
MH  - Sialic Acid Storage Disease/diagnosis/*genetics
MH  - Siblings
MH  - Skin/pathology/ultrastructure
EDAT- 2002/07/18 10:00
MHDA- 2003/07/18 05:00
CRDT- 2002/07/18 10:00
PHST- 2002/07/18 10:00 [pubmed]
PHST- 2003/07/18 05:00 [medline]
PHST- 2002/07/18 10:00 [entrez]
AID - cge610608 [pii]
AID - 10.1034/j.1399-0004.2002.610608.x [doi]
PST - ppublish
SO  - Clin Genet. 2002 Jun;61(6):443-7. doi: 10.1034/j.1399-0004.2002.610608.x.