Amaurotic Family Idiocy (Tay-Sachs' Disease)

A Congenital Form of Amaurotic Family Idiocy.

SINCE the original description of Tay-Sach's disease in the eighties of the last century a group of allied nervous disorders has become recognized, the common pathological feature of which is a ubiquitous distention of the nerve cells with granules of a lipoid nature. Apart from a few anomalous forms it is customary to classify these amaurotic family idiocies according to the time of onset of t...

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...

Tay-Sachs disease: a centenary.

Juvenile and late forms of amaurotic idiocy in one family.