Tay-Sachs disease: a centenary.
نویسنده
چکیده
منابع مشابه
Three Novel Mutations in Iranian Patients with Tay-Sachs Disease
Background: Tay-Sachs disease (TSD), or GM2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside. The aim of this study was to identify the TSD-causing mutations in an Iranian population. Methods: In this study, we examined 31 patients for TSD-causing m...
متن کاملTay-Sachs Disease in Two Iranian Identical Male Twins; A Case Report
Background Tay-Sachs disease is an autosomal-recessive lysosomal storage metabolic disorder. The typical symptoms of the disease include ataxia, muscle weakness, and mental disorders. The severity of the clinical symptom relies on the enzymatic activity of residual Hexosaminidase-A. Case Presentation</...
متن کاملThe metabolism of Tay-Sachs ganglioside: catabolic studies with lysosomal enzymes from normal and Tay-Sachs brain tissue.
The catabolism of Tay-Sachs ganglioside, N-acetylgalactosaminyl- (N-acetylneuraminosyl) -galactosylglucosylceramide, has been studied in lysosomal preparations from normal human brain and brain obtained at biopsy from Tay-Sachs patients. Utilizing Tay-Sachs ganglioside labeled with (14)C in the N-acetylgalactosaminyl portion or (3)H in the N-acetylneuraminosyl portion, the catabolism of Tay-Sac...
متن کاملBernard Sachs (1858-1944)
Bernard Sachs studied nervous system disorders in children in the United States during the nineteenth and twentieth centuries. In the late 1880s, Sachs described the fatal genetic neurological disorder called amaurotic family idiocy, later renamed Tay-Sachs disease. The disorder degrades motor skills as well as mental abilities in affected individuals. The expected lifespan of a child with Tay-...
متن کاملSialidase-mediated depletion of GM2 ganglioside in Tay-Sachs neuroglia cells.
Tay-Sachs disease is a severe, inherited disease of the nervous system caused by accumulation of the brain lipid GM2 ganglioside. Mouse models of Tay-Sachs disease have revealed a metabolic bypass of the genetic defect based on the more potent activity of the enzyme sialidase towards GM2. To determine whether increasing the level of sialidase would produce a similar effect in human Tay-Sachs ce...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Archives of disease in childhood
دوره 62 10 شماره
صفحات -
تاریخ انتشار 1987