Tay-Sachs disease: case report

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...

Tay-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</...

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...

Tay-Sachs disease: a centenary.

Screening for Tay-sachs Disease

Carrier screening programs have historically been focused within a particular group---e.g., Tay-Sachs among Ashkenazic Jews and sickle cell anemia among African Americans. With cystic fibrosis (CF), the potential target population is larger and less defined, which may introduce both technical and organizational complexity not present in past carrier screening. This appendix describes past carri...