Peripheral neuropathy in the cherry‐red spot—myoclonus syndrome (Sialidosis type I)

Steinman, Lawrence; Tharp, Barry R.; Dorfman, Leslie J.; Forno, L. S.; Sogg, Richard L.; Kelts, K. A.; O’Brien, John S.

doi:10.1002/ana.410070510

Cited by 34 publications

(5 citation statements)

References 17 publications

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“…However, there has been so far no ultrastructural study on a rectal specimen in severe infantile sialidosis. Morphological changes in axons and Schwann's cells in the rectal specimen ofthis disease were the same as those in biopsied sural nerves of patients with other type of sialidosis (Steinman et al 1980). In addition to these, fibroblasts, endothelial cells, Iymphocytes and plasma cells also carried numerous membrane-bound vacuoles.…”

Section: Discussionsupporting

confidence: 61%

Ultrastructural Study on a Severe Infantile Sialidosis (β-Galactosidase - α-Neuraminidase Deficiency)

Yamano

Shimada

Sugino³

et al. 1985

Neuropediatrics

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This study was undertaken to elucidate ultrastructural changes in a severe infantile sialidosis. The materials examined in this study consisted of biopsied rectal mucosa and autopsied small intestine, liver and kidney. In the biopsy sample, axons contained a number of pleomorphic electron dense bodies, and numerous membrane-bound vacuoles were found in Schwann's cells, fibroblasts, endothelial cells, lymphocytes and plasma cells. In autopsy samples, neurons in Auerbach's myenteric plexus of the small intestine were filled with a number of membranous cytoplasmic bodies, pleomorphic dense bodies and vesicles containing dense materials. Hepatocytes in the liver, and glomerular and tubular epithelial cells in the kidney were also extended by a number of membrane-bound vacuoles. These ultrastructural changes in severe infantile sialidosis closely resemble those in GM1-gangliosidosis type 1.

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Section: Discussionsupporting

confidence: 61%

Ultrastructural Study on a Severe Infantile Sialidosis (β-Galactosidase - α-Neuraminidase Deficiency)

Yamano

Shimada

Sugino³

et al. 1985

Neuropediatrics

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“…Neuraminidase deficiency together with excretion of sialyloligosaccharides in urine were subsequently demonstrated in few patients with similar features [11, 12, 13, 14, 15]. Since 1979, about 15 other confirmed patients have been described [16, 17, 18, 19, 20, 21, 22, 23, 24]. This syndrome is now generally referred to type I sialidosis.…”

Section: Discussionmentioning

confidence: 97%

Type I Sialidosis: A Clinical, Biochemical and Neuroradiological Study

et al. 2000

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We report biochemical, morphological and neuroradiological findings in a 40-year-old woman affected with type I sialidosis. The clinical symptoms, consisting of a cerebellar syndrome, were first noted at the age of 17 years. The macular cherry-red spot was first observed after 23 years of disease. A CT scan performed at 21 years of age showed enlargement of the fourth ventricle. Nuclear magnetic resonance imaging of the brain performed at the age of 40 showed severe atrophy of the cerebellum and pontine region; atrophy of cerebral hemispheres and of the corpus callosum was also observed. We emphasize the prolonged course of illness in this patient, observed over a long period of time. Of particular interest is the neuroradiological study showing our findings both at the beginning of the disease and after 20 years.

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“…Steinman et al. [32] described a ST‐1 patient in 1980 with the electrophysiological and morphological evidence of a sensory‐motor polyneuropathy. The authors demonstrated distinctive inclusions in the cytoplasm of Schwann cells.…”

Section: Discussionmentioning

confidence: 99%

A longitudinal study of Taiwanese Sialidosis type 1: an insight into the concept of cherry‐red spot myoclonus syndrome

Lai

Chen

Chou³

et al. 2009

Euro J of Neurology

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Peripheral neuropathy in the cherry‐red spot—myoclonus syndrome (Sialidosis type I)

Cited by 34 publications

References 17 publications

Ultrastructural Study on a Severe Infantile Sialidosis (β-Galactosidase - α-Neuraminidase Deficiency)

Ultrastructural Study on a Severe Infantile Sialidosis (β-Galactosidase - α-Neuraminidase Deficiency)

Type I Sialidosis: A Clinical, Biochemical and Neuroradiological Study

A longitudinal study of Taiwanese Sialidosis type 1: an insight into the concept of cherry‐red spot myoclonus syndrome

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