A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease

Barmherzig, Rebecca; Bullivant, Garrett; Cordeiro, Dawn; Sinasac, David S.; Blasér, Susan; Mercimek-Mahmutoglu, Saadet

doi:10.1016/j.pediatrneurol.2017.05.022

Cited by 21 publications

(11 citation statements)

References 27 publications

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“…They include ASAH1 (acid ceramidase, causing Farber disease), CLN10 (cathepsin-D, a lysosomal aspartyl proteinase causing neuronal ceroid lipofuscinosis), and SLC17A5 (sialin, causing Salla disease). The latter is involved in the transport of the sialic acid residues released by the action of sialidases on gangliosides and glycoproteins out of lysosomes [74]. Of note, Farber disease is a typical spectrum disease where patients carrying the same mutation present very different clinical features (reviewed in [29]) (Table 1).…”

Section: Other Diseases Of Sphingolipid Metabolism Determining or mentioning

confidence: 99%

The Link between Gaucher Disease and Parkinson’s Disease Sheds Light on Old and Novel Disorders of Sphingolipid Metabolism

Indellicato

Trinchera

2019

IJMS

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Sphingolipid metabolism starts with the biosynthesis of ceramide, a bioactive lipid and the backbone for the biosynthesis of complex sphingolipids such as sphingomyelin and glycosphingolipids. These are degraded back to ceramide and then to sphingosine, which enters the ceramide–sphingosine-1-phosphate signaling pathway or is further degraded. Several enzymes with multiple catalytic properties and subcellular localizations are thus involved in such metabolism. Hereditary defects of lysosomal hydrolases have been known for several years to be the cause of lysosomal storage diseases such as gangliosidoses, Gaucher disease, Niemann–Pick disease, Krabbe disease, Fabry disease, and Farber disease. More recently, many other inborn errors of sphingolipid metabolism have been recognized, involving enzymes responsible for the biosynthesis of ceramide, sphingomyelin, and glycosphingolipids. Concurrently, epidemiologic and biochemical evidence has established a link between Gaucher disease and Parkinson’s disease, showing that glucocerebrosidase variants predispose individuals to α-synuclein accumulation and neurodegeneration even in the heterozygous status. This appears to be due not only to lysosomal overload of non-degraded glucosylceramide, but to the derangement of vesicle traffic and autophagy, including mitochondrial autophagy, triggered by both sphingolipid intermediates and misfolded proteins. In this review, old and novel disorders of sphingolipid metabolism, in particular those of ganglioside biosynthesis, are evaluated in light of recent investigations of the link between Gaucher disease and Parkinson’s disease, with the aim of better understanding their pathogenic mechanisms and addressing new potential therapeutic strategies.

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Section: Other Diseases Of Sphingolipid Metabolism Determining or mentioning

confidence: 99%

The Link between Gaucher Disease and Parkinson’s Disease Sheds Light on Old and Novel Disorders of Sphingolipid Metabolism

Indellicato

Trinchera

2019

IJMS

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“…Free sialic acid storage disorders were first described in 1978 in an isolated Finnish population as called Salla disease: patients with onset in infancy have a rather long survival (Aula et al 1978;Rendlundetal.1979).Amoresevereformwitha short survival [infantile sialic acid storage disorder (ISSD)] primarily affects newborns, although antenatal presentations have been reported (Barmherzig et al 2017). Both are recessively inherited allelic neurodegenerative disorders (Tondeur et al 1982;Stevenson et al 1983;Paschke et al 1986) due to a defective free sialic acid transport out of the lysosome, resulting from a mutation in the SLC17A5 gene encoding the lysosomal sialic acid transporter sialin (Verheijen et al 1999).…”

Section: Free Sialic Acid Storage Disordersmentioning

confidence: 99%

Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders

Piraud

Pettazzoni

Lavoie

et al. 2018

J of Inher Metab Disea

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Tandem mass spectrometry (MS/MS) is a highly sensitive and specific technique. Thanks to the development of triple quadrupole analyzers, it is becoming more widely used in laboratories working in the field of inborn errors of metabolism. We review here the state of the art of this technique applied to the diagnosis of lysosomal storage disorders (LSDs) and how MS/MS has changed the diagnostic rationale in recent years. This fine technology brings more sensitive, specific, and reliable methods than the previous biochemical ones for the analysis of urinary glycosaminoglycans, oligosaccharides, and sialic acid. In sphingolipidoses, the quantification of urinary sphingolipids (globotriaosylceramide, sulfatides) is possible. The measurement of new plasmatic biomarkers such as oxysterols, bile acids, and lysosphingolipids allows the screening of many sphingolipidoses and related disorders (Niemann-Pick type C), replacing tedious biochemical techniques. Applied to amniotic fluid, a more reliable prenatal diagnosis or screening of LSDs is now available for fetuses presenting with antenatal manifestations. Applied to enzyme measurements, it allows high throughput assays for the screening of large populations, even newborn screening. The advent of this new method can modify the diagnostic rationale behind LSDs.

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“…Leading to severe or progressive psychomotor retardation, SD is caused by a homozygous or a compound heterozygous mutation in the SLC17A5 gene on chromosome 6q13 [3]. It is a mild form of free sialic acid storage disorder (FSASD), and the type of mutation in the SLC17A5 gene correlates with the severity of the clinical phenotype [4][5][6]. The SLC17A5 gene is responsible for lysosomal membrane sialic acid transport and is crucial for normal central nervous system myelination [3,7,8].…”

Section: Introductionmentioning

confidence: 99%

Psychiatric symptoms in Salla disease

Aulanko

Rahikkala

Moilanen

2022

Eur Child Adolesc Psychiatry

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Salla disease (SD) is a rare lysosomal storage disorder characterised by intellectual disability ataxia, athetosis, nystagmus, and central nervous system demyelination. Although the neurological spectrum of SD’s clinical phenotype is well defined, psychotic symptoms in SD remain unreported. We reviewed the presence of psychiatric symptoms in patients diagnosed with SD. Medical records of all SD patients at Oulu University Hospital during the years 1982–2015 were systematically reviewed to evaluate the presence of psychiatric symptoms. Psychiatric symptoms were frequently associated with SD (10/24, 42%), and two patients were described as developing psychosis as adolescents. We reported their clinical characteristics in detail and assessed the prevalence of psychiatric symptoms in a cohort of 24 patients. Other psychiatric factors associated with SD were sleeping disorders (8/24, 32%), aggressive behaviour disorders or restlessness (6/24, 25%), and off-label antipsychotic medication (4/24, 17%). This report expands the knowledge of the phenotypic spectrum of SD and demonstrates the importance of recognising the possibility of psychiatric symptoms, including psychosis, in persons with SD.

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A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease

Cited by 21 publications

References 27 publications

The Link between Gaucher Disease and Parkinson’s Disease Sheds Light on Old and Novel Disorders of Sphingolipid Metabolism

The Link between Gaucher Disease and Parkinson’s Disease Sheds Light on Old and Novel Disorders of Sphingolipid Metabolism

Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders

Psychiatric symptoms in Salla disease

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