Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews
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چکیده
منابع مشابه
Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews.
OBJECTIVES To evaluate the outcomes of preconception screening of Jewish Australians for Tay Sachs disease (TSD) carrier status on Jewish TSD-affected births. DESIGN, PARTICIPANTS AND SETTING Epidemiological observational study involving a complete retrospective audit of infantile and intermediate TSD cases diagnosed in Sydney and Melbourne between 1 January 1995 and 31 December 2011 (Royal C...
متن کاملTay-Sachs disease: current perspectives from Australia
Tay-Sachs disease (TSD) is a fatal, recessively inherited neurodegenerative condition of infancy and early childhood. Although rare in most other populations, the carrier frequency is one in 25 in Ashkenazi Jews. Australian high-school-based TSD preconception genetic screening programs aim to screen, educate, and optimize reproductive choice for participants. These programs have demonstrated hi...
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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...
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In 1881 British ophthalmologist Warren Tay made an unusual observation. He reported a cherry-red spot on the retina of a one-year-old patient, a patient who was also showing signs of progressive degeneration of the central nervous system [4] as manifested in the child?s physical and mental retardation [5]. This cherry-red spot is a characteristic that would eventually come to be associated with...
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We discuss the assessment and differential diagnoses of a young adult Hungarian man with a 1-year history of a progressive and symmetric amyotrophic lateral sclerosis-like syndrome, along with irregular action tremor and stimulus-sensitive myoclonus of the arms. MR scan of the brain showed isolated cerebellar atrophy and formal neuropsychometric testing identified significant subclinical defici...
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ژورنال
عنوان ژورنال: Medical Journal of Australia
سال: 2012
ISSN: 0025-729X,1326-5377
DOI: 10.5694/mja12.11010