Sialidosis type I: First report in the Indian population

Bhigjee, Ahmed Iqbal; Seebaran, A; Petersen, E.M.; Bill, P. L. A.

doi:10.1016/0303-8467(91)90050-y

Cited by 3 publications

(1 citation statement)

References 9 publications

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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: 99%

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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Section: Discussionmentioning

confidence: 99%

Type I Sialidosis: A Clinical, Biochemical and Neuroradiological Study

et al. 2000

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Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview

Caciotti

Melani

Tonin

et al. 2020

Molecular Genetics and Metabolism

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Recent Advances in Hereditary Spinocerebellar Ataxias

Warrenburg

Sinke

Kremer

2005

J Neuropathol Exp Neurol

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In recent years, molecular genetic research has unraveled a major part of the genetic background of autosomal dominant and recessive spinocerebellar ataxias. These advances have also allowed insight in (some of) the pathophysiologic pathways assumed to be involved in these diseases. For the clinician, the expanding number of genes and genetic loci in these diseases and the enormous clinical heterogeneity of specific ataxia subtypes complicate management of ataxia patients. In this review, the clinical and neuropathologic features of the recently identified spinocerebellar ataxias are described, and the various molecular mechanisms that have been demonstrated to be involved in these disorders are discussed.

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Sialidosis type I: First report in the Indian population

Cited by 3 publications

References 9 publications

Type I Sialidosis: A Clinical, Biochemical and Neuroradiological Study

Type I Sialidosis: A Clinical, Biochemical and Neuroradiological Study

Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview

Recent Advances in Hereditary Spinocerebellar Ataxias

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