ArticleAJNR. American journal of neuroradiology1999
Brain involvement in Salla disease.
Article in AJNR. American journal of neuroradiology, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 64 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 free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolism.Scientific reports · 2025Article
- Psychiatric symptoms in Salla disease.European child & adolescent psychiatry · 2023Review
- Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family.BMC medical genomics · 2019Article
- A 13-year follow-up of Finnish patients with Salla disease.Journal of neurodevelopmental disorders · 2015Article
- Sialic acids in the brain: gangliosides and polysialic acid in nervous system development, stability, disease, and regeneration.Physiological reviews · 2014Review
- An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation.Case reports in neurological medicine · 2012Article
- Magnetic resonance imaging pattern recognition in hypomyelinating disorders.Brain : a journal of neurology · 2010Article
- Free sialic acid storage disease without sialuria.Annals of neurology · 2009Article
- Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.Neurogenetics · 2005Article
- Functional characterization of wild-type and mutant human sialin.The EMBO journal · 2004Article
- A case of Salla disease with involvement of the cerebellar white matter.Neuroradiology · 2003Article
- New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum.AJNR. American journal of neuroradiology · 2002Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background and purposeOur purpose was to document the nature and progression of brain abnormalities in Salla disease, a lysosomal storage disorder, with MR imaging.
methodsFifteen patients aged 1 month to 43 years underwent 26 brain MR examinations. In 10 examinations, signal intensity was measured and compared with that of healthy volunteers of comparable ages.
resultsMR images of a 1-month-old asymptomatic child showed no pathology. In all other patients, abnormal signal intensity was found: on T2-weighted images, the cerebral white matter had a higher signal intensity than the gray matter, except in the internal capsules. In six patients, the white matter was homogeneous on all images. In four patients, the periventricular white matter showed a somewhat lower signal intensity; in five patients, a higher signal intensity. In the peripheral cerebral white matter, the measured signal intensity remained at a high level throughout life. No abnormalities were seen in the cerebellar white matter. Atrophic changes, if present, were relatively mild but were found even in the cerebellum and brain stem. The corpus callosum was always thin.
conclusionIn Salla disease, the cerebral myelination process is defective. In some patients, a centrifugally progressive destructive process is also seen in the cerebral white matter. Better myelination in seen in patients with milder clinical symptoms.
Indexed as
Identifiers
10219409PMC7056084W2132578959What OpenQuestion holds
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.