Atypical presentation of late-onset Tay-sachs disease

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

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...

Mechanism of interrupted saccades in patients with late-onset Tay-Sachs disease.

In late-onset Tay-Sachs disease (LOTS), saccades are interrupted by one or more transient decelerations. Some saccades reaccelerate and continue on before eye velocity reaches zero, even in darkness. Intervals between successive decelerations are not regularly spaced. Peak decelerations of horizontal and vertical components of oblique saccades in LOTS is more synchronous than those in control s...

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...