sialic acid storage disease/ataxie

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A 13-year follow-up of Finnish patients with Salla disease.

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BACKGROUND Salla disease (SD) is a rare lysosomal storage disorder leading to severe intellectual disability. SD belongs to the Finnish disease heritage, and it is caused by mutations in the SLC17A5 gene. The aim of the study was to investigate the course of neurocognitive features of SD patients in

Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder.

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Salla disease (SD) is a recessively inherited lysosomal storage disorder particularly common in the Finnish population. Patients with SD are normal at birth, but develop psychomotor delay and ataxia during the first year of life. Phenotypic variation of SD is wide, ranging from severely disabled

A case of Salla disease with involvement of the cerebellar white matter.

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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

Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism.

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Salla disease is a lysosomal storage disorder associated with increased urinary excretion of free sialic acid. The main clinical features in 34 patients were severe psychomotor retardation of early onset, ataxia, athetosis, rigidity, spasticity, and impaired speech. Growth retardation, thick

Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes.

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Salla disease is an autosomal recessive lysosomal storage disease relatively common in the Finnish population. The main manifestations of more than 70 patients detected to date are severe psychomotor retardation and ataxia of early onset. Intracellular free N-acetylneuraminic acid (sialic acid) is

Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection.

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A Dutch child with psychomotor retardation, impaired speech, ataxia, sialic acid storage and vacuolized skin fibroblasts and lymphocytes was diagnosed as having free sialic acid storage disease. Slight corneal opacities, pale optic disks at the fundus oculi and vertebral abnormalities, not earlier

Salla disease in one non-Finnish patient.

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In a 5-year-old boy, an early onset psychomotor retardation with non-progressive ataxia and without dysmorphic features, associated with lysosomal storage disease found on ultrastructural examination of the conjunctiva, led to the diagnosis of Salla disease. This was supported by a tenfold excretion

Free sialic acid storage (Salla) disease in Sweden.

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The first 23 patients diagnosed with Salla disease in Sweden are presented. A high incidence of the "Finnish" R39C mutation, together with genealogical data, indicates that a large proportion of the mutations are of Finnish origin. All patients had pathologically high levels of free sialic acid in

Multiple neuroendocrine disorder in Salla disease.

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Salla disease represents the slowly progressive adult form of the sialic acid storage diseases, a group of autosomal-recessive neurodegenerative disorders in which psychomotor development, ataxia, axial hypotonia, and spasticity in the lower limbs occur. No skeletal dysostosis or organomegaly is

Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA).

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In order to identify new metabolic abnormalities in patients with complex neurodegenerative disorders of unknown aetiology, we performed high resolution in vitro proton nuclear magnetic resonance spectroscopy on patient cerebrospinal fluid (CSF) samples. We identified five adult patients, including

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

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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

Neuropathology of Salla disease.

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A neuropathological study was performed on two patients with Salla disease, one male and one female, from different families. They both died at the age of 41 years. Both patients showed increased excretion of free sialic acid in the urine, psychomotor retardation starting in the 1st year of life,

Infantile sialic acid storage disease (ISSD). Report on first case in Czech Republic with biopsy and autopsy findings.

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The first case of infantile sialic acid storage disease in Czech Republic is presented in a four-and-half year-old girl. The clinical phenotype consisted of moderate hepatosplenomegaly and skin hypopigmentation, early psychomotoric and developmental arrest, associated with truncal ataxia and lower

Increased brain glucose utilization in Salla disease (free sialic acid storage disorder).

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Salla disease is an autosomal recessive lysosomal free sialic acid storage disorder characterized by psychomotor retardation and ataxia. MRI studies have revealed evidence of dysmyelination, but the biological mechanism of the brain dysfunction is unknown. METHODS Nine patients with Salla disease

Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population.

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An Old Order Mennonite child was evaluated for gross motor delay, truncal ataxia, and slow linear growth. The diagnostic evaluation, which included sub-specialty consultations, neuroimaging, and metabolic testing, was long, costly, and did not yield a diagnosis. Recognition of a similarly affected

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