The purpose of this paper is to present the clinical and neuropathological findings in two idiot brothers in whom the mode and time of onset and the pattern of brain anomalies were remarkably similar. Clinically there were similarities with well-known syndromes such as Tay Sachs and Schilder's disease. However, the ultimate diagnosis was to emphasize the frequent difficulties encountered in det...

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...

Sandhoff disease is a neurodegenerative disease caused due to deficiency of hexosaminidase (HEX) A and B. A 1-year-old male child presented with regression of milestones, exaggerated startle response, decreased vision, and seizures from 6 months of age. The child had coarse facies without hepatosplenomegaly. Serum levels of β hexosaminidase total (A + B) were low. Genetic testing for Sandhoff d...

We explored the advantages and disadvantages of using ethnic categories in genetic research. With the discovery that certain breast cancer gene mutations appeared to be more prevalent in Ashkenazi Jews, breast cancer researchers moved their focus from high-risk families to ethnicity. The concept of Ashkenazi Jews as genetically unique, a legacy of Tay-Sachs disease research and a particular rea...

Neurological rarities 392 Relapsing cerebral amyloid angiopathy-related inflammation: the wax and the wane S Salam, M Anandarajah, S Al-Bachari, P Pal, J Sussman, H Hamdalla 396 Late-onset Tay–Sachs disease A W Barritt, S J Anderson, P N Leigh, B H Ridha 400 Ictal pain in focal non-convulsive status epilepticus S Casciato, A Morano, J Fattouch, M Fanella, M Albini, A T Giallonardo, C Di Bonaven...

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