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Leptin, adiponectin, and resistin secretion and diurnal rhythmicity are unaltered in Parkinson's disease by Nasir Ahmad Aziz; Hanno Pijl; Marijke Frölich; Ferdinand Roelfsema; Raymund A.C. Roos is a Medicine article available to read on EtoBox.

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galactosidase (3.1 umol/l/h; normal range: more than 15). Biochemical analysis showed elevated urinary sialyloligosaccharides characteristic for galactosialidosis. 1 This case was diagnosed as a juvenile/adult form of galactosialidosis based on biochemical and enzymatic tests. This patient presented with typical features, but so far, she had no epilepsy or macular cherry-red spots also described in this disease. 1,3-5 She was treated with levetiracetam 2,000 mg/day with improvement of myoclonus. Specific therapy in humans is not available at present. 1 In galactosialidosis, sialyloligosaccharides accumulates in lysosomes of different tissues and are excreted in body fluids. Previous neuropathological studies have demonstrated neuronal swelling and the accumulation of heterogeneous inclusions and cytoplasmic vacuoles in anterior horn cells, spinal ganglia, sympathetic ganglia, myenteric plexus, hippocampus, and Meynert nucleus. Endothelin-1, a substrate of cathepsin A, was more recently identified as one of the storage materials in the cerebellum, hippocampus, and spinal cord. 6 To date, most of the patients with juvenile galactosialidosis were Japanese 1,3-5 and we think this is th

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Author
Nasir Ahmad Aziz; Hanno Pijl; Marijke Frölich; Ferdinand Roelfsema; Raymund A.C. Roos
Publisher
John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley (ISSN 0885-3185)
Published
2011
Language
EN
Field
Medicine (Health Sciences)

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