Annals of Human Genetics 09/2007; 42(3):273 - 281. DOI:10.1111/j.1469-1809.1979.tb00661.x · 1.93 Impact Factor
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ABSTRACT: Obserrations have been made on two brothers who had progressive ataxia, intention myoclonus and visual failure starting early in the third decade of life. Their parents were consanguineous. The brothers showed bilateral cherry red spots a t the maculae and bilateral perinuclear cataracts; their intelligence was preserved. Urine was found to contain large amounts of sialylated oligosaccharides; cultured skin fibroblasts showed deficiency of the enzyme sialidase (neuraminidase).
Studies on leiirocytes and cultured skin fibroblasts showed aberrant electrophoretic mobilities of six enzmyes all of which are known to be glycoproteins, and this has been attributed to excessive amounts of sialic acid on the enzyme molecules.
The clinical features together with the biochemical findings indicate that these are further cases of the newly described condition Sialidosis Type 1 and i t is suggested that the electrophoretic findings might be typical of the condition.
Annals of Human Genetics 09/2007; 43(1):27 - 35. DOI:10.1111/j.1469-1809.1979.tb01546.x · 1.93 Impact Factor
Annals of Human Genetics 09/2007; 40(1):55 - 66. DOI:10.1111/j.1469-1809.1976.tb00164.x · 1.93 Impact Factor