Summary
Clinical and biochemical studies are reported on a 32-year-old man with GM1 gangliosidosis who presented with a slowly progressive dystonia that began when he was aged 7 years and eventually became almost totally incapacitating at the age of 35. There was only mild intellectual deterioration, but myoclonus, seizures and macular cherry-red spots were never observed. Proton-density and T2-weighted MRI scans showed symmetrical hyperintense lesions of both putamina. No increase of GM1 ganglioside was found in plasma or cerebrospinal fluid, and the metabolism of GM1 ganglioside in cultured skin fibroblasts from the patient was also almost normal, although the residual activity of GM1 ganglioside β-galactosidase activity was only 10% of normal. These findings suggest that impaired GM1 ganglioside metabolism is not present systemically as it is in the infantile and juvenile types of the disorder, but is mainly confined to the central nervous system in chronic GM1 gangliosidosis.
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References
Goldman JE, Katz D, Rapin I, Purpura DP, Suzuki K (1981) Chronic GM1 gangliosidosis presenting as dystonia. I. Clinical and pathological features. Ann Neurol 9:465–475
Guazzi GC, D'Amore I, Van Hoof F, Fruschelli C, Alessandrini C, Palmeri S, Federico A (1988) Type 3 (chronic) GM1 gangliosidosis presenting as infanto-choreo-athetotic dementia, without epilepsy, in three sisters. Neurology 8:1124–1127
Hirabayashi Y, Koketsu K, Higashi H, Suzuki Y, Matsumoto M, Sugimoto M, Ogawa T (1986) Sensitive enzyme-immunostaining and densitometric determination of ganglio-series gangliosides on thin-layer plate: pmol detection of gangliosides in cerebrospinal fluid. Biochim Biophys Acta 876:178–182
Inui K, Furukawa M, Okada S, Yabuuchi H (1988) Metabolism of cerebroside sulfate and subcellular distribution of its metabolites in cultured skin fibroblasts from control, metachromatic leukodystrophy, and globoid cell leukodystrophy. J Clin Invest 81:310–317
Kobayashi T, Suzuki K (1981) Chronic GM1 gangliosidosis presenting as dystonia. II. Biochemical studies. Ann Neurol 9:476–483
Mutoh T, Sobue I, Naoi M, Matsuoka Y, Iuchi K, Sugimura K (1986) A family with β-galactosidase deficiency: three adults with atypical clinical patterns. Neurology 36:54–59
Nakano T, Ikeda S, Kondo K, Yanagisawa K, Tsuji S (1985) Adult GM1 gangliosidosis: clinical patterns and rectal biopsy. Neurology 35:875–880
O'Brien JS (1989) β-Galactosidase deficiency: ganglioside sialidase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 1797–1806
Ohta K, Tsuji S, Mizuno Y, Atsumi T, Yahagi T, Miyatake T (1985) Type 3 (adult) GM1 gangliosidosis: case report. Neurology 35:1490–1495
Suzuki Y, Nakamura N, Fukuoka K, Shimada Y, Uono M (1977) β-Galactosidase deficiency in juvenile and adult patients: report of six Japanese cases and review of literature. Hum Genet 36:219–229
Wenger DA, Sattler M, Mueller OT, Myers GG, Schneiman RS, Nixon GG (1980) Adult GM1 gangliosidosis: clinical and biochemical studies on two patients and comparison to other patients called variant or adult GM1 gangliosidosis. Clin Genet 17:323–334
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Inui, K., Namba, R., Ihara, Y. et al. A case of chronic GM1 gangliosidosis presenting as dystonia: clinical and biochemical studies. J Neurol 237, 491–493 (1990). https://doi.org/10.1007/BF00314770
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DOI: https://doi.org/10.1007/BF00314770