ArticleNeuroradiology2003
A case of Salla disease with involvement of the cerebellar white matter.
Article in Neuroradiology, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Decreased T2 signal in the thalami may be a sign of lysosomal storage disease.Neuroradiology · 2007Pooled it
- A model of free sialic acid storage disorder reveals hypomyelinating leukodystrophy and Purkinje cell degeneration.Disease models & mechanisms · 2026Article
- Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities.Journal of child neurology · 2019Review
- Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.Neurogenetics · 2005Article
- Cerebellar white matter involvement in Salla disease.Neuroradiology · 2004Article
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Salla disease (SD) is a lysosomal disorder manifesting in infancy with hypotonia, nystagmus, ataxia and retarded motor development. MRI typically shows hypomyelination confined to the cerebral white matter. We describe a patient with two MRI studies in addition to repeated urine examinations. This case was problematic because the first urine examination did not show the elevation of free sialic acid typical of SD and MRI was also atypical, with abnormal signal intensity in cerebellar white matter. We recommend repeated urinary examinations and a search for SLC17A5 mutations in patients with cerebral signal intensity abnormalities typical of SD and emphasise that cerebellar white-matter involvement on MRI does not exclude the diagnosis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.