Summary
The neuropathological findings in a 13-year-old Japanese male showing decrease of sialidase and β-galactosidase activities are reported. The patient was the product of normal pregnancy to consanguineous parents. He started to sit at 8 months, stand at 20 months and walk at the age of 2; mental retardation, visual disturbance, cerebellar ataxia, myoclonus and epilepsy developed by the age of 10, and he died at 13. Neuropathological investigation revealed neuronal loss and storage. Severe loss of neurons was observed in the thalamus, globus pallidus, lateral geniculate body, gracile nucleus, Purkinje and retinal ganglion cells. Marked ballooning was seen in the Betz cells and neurons in the basal forebrain, the motor neurons in the cranial nerve nuclei and spinal cord, and in the trigeminal and spinal ganglia. The storage material varied in staining from region to region and from neuron to neuron. Electron microscopic investigation revealed a variety of intracytoplasmic and intranuclear inclusions: membranous cytoplasmic bodies, parallel, wavy-lamellar or tortuous tubular structures, lipofuscin-like irregular-shaped pleomorphic bodies, and cytoplasmic vacuoles with fine granules and lamellar materials. The severity of the neuronal loss did not seem to correlate with the amount of the storage materials, but with the presence of tortuous tubular inclusion.
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Amano N, Yokoi S, Akagi M, Sakai M, Yagishita S, Nakata K (1983) Neuropathological findings of an autopsy case of adult β-galactosidase and neuraminidase deficiency. Acta Neuropathol (Berl) 61:283–290
D'Azzo A, Hoogeveen A, Reuser AJJ, Robinson D, Galjaard H (1982) Molecular defect in combined β-galactosidase and neuraminidase deficiency in man. Proc Natl Acad Sci USA 79:4535–4539
Endo H, Al-Samarrai SF, Sakakibara K, Nagashima K, Shimada Y (1977) A new type of mucolipidosis associated with hereditary thrombocytopathy and color blindness. Acta Pathol Jpn 27:421–434
Gonatas NK, Terry RD, Winkler R, Korey SR, Gomez CJ, Stein A (1963) A case of juvenile lipidosis: the significance of electron microscopic and biochemical observations of a cerebral biopsy. J Neuropathol Exp Neurol 22:557–580
Hoogeveen AT, Graham-Kawashima H, d'Azzo A, Galjaard H (1984) Processing of human β-galactosidase in GM1 gangliosidosis and Morquio B syndrome. J Biol Chem 259:1974–1977
Koga M, Sato T, Ikuta F, Nakashima S, Kameyama K, Kojima K (1978) An autopsy case of familial neurovisceral storage disease of late onset. Folia Psychiatr Neurol Jpn 32:299–308
Koizumi T, Endo A, Hata H, Ebato T, Oyanagi S, Matsushita M, Ishii T, Abe T (1978) An autopsied case of mucolipidosis with neurological manifestation of dyssynergia cerebellaris myoclonica. Shinkei Kenkyu No Shimpo 22:403–415
Lowden JA, O'Brien JS (1979) Sialidosis: a review of human neuraminidase deficiency. Am J Hum Genet 31:1–18
Miyatake T, Suzuki K (1972) Globoid cell leukodystrophy: additional deficiency of psychosine galactosidase. Biochem Biophys Res Commun 48:538–543
Miyatake T, Atsumi T, Obayashi T, Mizuno Y, Ando S, Ariga T, Matsui-Nakamura K, Yamada T (1979) Adult-type neuronal storage disease with neuraminidase deficiency. Ann Neurol 6:232–244
Palmeri S, Hoogeveen AT, Verheijen FW, Galjaard H (1986) Galactosialidosis: molecular heterogeneity among distinct clinical phenotypes. Am J Hum Genet 38:137–148
Sakuraba H, Suzuki Y, Akagi M, Sakai M, Amano N (1983) β-Galactosidase-neuraminidase deficiency (galactosialidosis): clinical, pathological, and enzymatic studies in a postmortem case. Ann Neurol 13:497–503
Strisciuglio P, Parenti G, Giudice C, Lijoi S, Hoogeveen AT, d'Azzo A (1988) The presence of a reduced amount of 32-kDa ‘protective’ protein is a distinct biochemical finding in late infantile galactosialidosis. Hum Genet 80:304–306
Suzuki Y, Nakamura N, Shimada Y, Yotsumoto H, Endo H, Nagashima K (1977) Macular cherry-red spots and β-galactosidase deficiency in an adult. Arch Neurol 34:157–161
Suzuki Y, Fukuoka K, Sakuraba H (1980) β-Galactosidase-neuraminidase deficiency with cerebellar ataxia and myoclonus. In: Sobue I (ed) Spoinocerebellar degenerations. University of Tokyo Press, Tokyo, pp 339–354
Tokuda Y, Harada K, Yamagami M, Shiraki H (1967) An autopsy case of a late form of familial amaurotic idiocy in comparison to the clinical and pathological findings on the two siblings with the same disease. Seishin Shinkeigaku Zasshi 69:401–428
Tsuji S, Yamada T, Tsutsumi A, Miyatake T (1982) Neuraminidase deficiency and accumulation of sialic acid in lymphocytes in adult type sialidosis with partial β-galactosidase deficiency. Ann Neurol 11:541–543
Tsuji S, Yamada T, Ariga T, Toyoshima I, Yamaguchi H, Kitahara Y, Miyatake T, Yamakawa T (1984) Carrier detection of sialidosis with partial β-galactosidase deficiency by the assay of lysosomal sialidase in lymphocytes. Ann Nerol 15:181–183
Verheijen FW, Palmeri S, Hoogeveen AT, Galjaard H (1985) Human placental neuraminidase: activation, stabilization and association with β-galactosidase and its ‘protective’ protein. Eur J Biochem 149:315–321
Yamano T, Shimada M, Matsuzaki K, Matsumoto Y, Yoshihara W, Okada S, Inui K, Yutaka T, Yabuuchi H (1986) Pathological study on a severe sialidosis (α-neuraminidase deficiency). Acta Neuropathol (Berl) 71:278–284
Yoshino H, Miyashita K, Miyatani N, Ariga T, Hashimoto Y, Tsuji S, Oyanagi K, Ohama E, Ikuta F, Suzuki A, Miyatake T (1990) Abnormal glycosphingolipid metabolism in the nervous system of galactosialidosis. J Neurol Sci 97:53–65
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Oyanagi, K., Ohama, E., Miyashita, K. et al. Galactosialidosis: neuropathological findings in a case of the late-infantile type. Acta Neuropathol 82, 331–339 (1991). https://doi.org/10.1007/BF00296543
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DOI: https://doi.org/10.1007/BF00296543