Abstract
Clinical and biochemical findings in two siblings (24-year-old sister and 20-year-old brother), born to consanguineous parents, are described. Both showed progressive generalized myoclonus, macular cherry-red spots, moderate cerebellar ataxia, coarse facies, vertebral deformities, vacuolation of peripheral lymphocytes, bone marrow cells and epithelial cells of conjunctiva, but had normal intelligence. The excretion of sialyloligosaccharides in the urine of both was 3-5 times larger than in the controls. The activities of alpha-neuraminidase and beta-galactosidase in leukocytes and cultured skin fibroblasts were reduced. The clinical and biochemical findings were those of the newly described condition, sialidosis type 2. Review of all Japanese cases considered as sialidosis type 2 showed that the most characteristic clinical features as distinct from type 1, were coarse facies and bone deformities, especially of vertebral bodies.
References
Jul 12, 1976·Biochemical and Biophysical Research Communications·G H ThomasJ W Bace
May 30, 1978·Biochemical and Biophysical Research Communications·D A WengerC Wharton
May 1, 1977·Acta Pathologica Japonica·H EndoY Shimada
Mar 1, 1978·Annals of Neurology·I RapinJ S O'Brien
Dec 1, 1978·Archives of Neurology·Y ItoyamaY Tanaka
Mar 1, 1977·Archives of Neurology·Y SuzukiK Nagashima
Apr 15, 1977·Human Genetics·Y SuzukiM Uono
Apr 3, 1979·European Journal of Pediatrics·S OkadaH Chiyo
Nov 1, 1979·Clinical Genetics·G H ThomasL W Reynolds
Dec 21, 1977·Biochemical and Biophysical Research Communications·J S O'Brien
Jan 1, 1977·American Journal of Medical Genetics·J SphrangerM Cantz
Jun 1, 1978·Clinica Chimica Acta; International Journal of Clinical Chemistry·S OkadaJ I Furuyama
Apr 1, 1978·Clinical Genetics·G H ThomasC S Miller
Jan 24, 1977·Biochemical and Biophysical Research Communications·M CantzJ Spranger
Sep 24, 1976·Biochimica Et Biophysica Acta·G StreckerJ P Farriaux
Jan 1, 1970·Humangenetik·J W Spranger, H R Wiedemann
Aug 1, 1972·The Tohoku Journal of Experimental Medicine·T OriiS Tsugawa
Oct 1, 1974·Archives of Internal Medicine·A YamamotoT Kitani
Jan 1, 1970·Humangenetik·A L de Weck
Jul 1, 1966·The British Journal of Ophthalmology·R TittarelliV Spadetta
May 1, 1980·Journal of the Neurological Sciences·M KuriyamaH Umezaki
Jan 1, 1981·The International Journal of Biochemistry·J A Alhadeff, S Wolfe
Citations
Jan 1, 1983·Acta Neuropathologica·N AmanoK Nakata
Jul 31, 1986·The New England Journal of Medicine·S F BerkovicL S Wolfe
Dec 16, 1983·Biochemical and Biophysical Research Communications·F W VerheijenH Galjaard
Dec 1, 1988·American Journal of Medical Genetics·D ChitayatJ G Hall
May 31, 2020·Annals of Clinical and Translational Neurology·Rui-Juan LvLi-Ri Jin
Aug 1, 1984·Clinical Genetics·M C LoonenW F Arts
Jan 1, 1993·Epilepsia·S F BerkovicF Andermann
Oct 12, 2005·Experimental Cell Research·Marc J ChampignySuleiman A Igdoura