Tay-Sachs Disease in Two Sinhalese Children

Tay-Sachs Disease

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...

Late-onset Tay-Sachs disease.

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...

T Sachs disease in two children: report two cases

Background and aim: Tachyx is a rare autosomal recessive and neurological disorder caused by glycosfenolipid accumulation (GM2 ganglioside) in cell lysosomes. The accumulation of GM2 ganglioside is due to the mutation in the beta-hexose aminase gene (HEXA), which reduces the activity and deficiency of the HEXA enzyme. The aim of this study was to report 2 cases of T.Sax disease.   Case report:...

Tay-Sachs disease: a centenary.

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...