We present a rare case of Tay-Sachs disease with retinal 'cherry-red spots' in a 19-month-old Malay child. Molecular genetic studies confirmed the diagnosis. The case highlights that 'cherry-red spot' is a useful clinical clue in Tay-Sachs disease and several other lysosomal storage disorders. It serves as an ideal illustration of the eye as a window to inborn error of metabolism.

A procedure is described for the preparation of Tay-Sachs ganglioside specifically labeled in the sialic acid portion of the molecule. Rat brain gangliosides were labeled biosynthetically by the intracranial injection of N-acetyl-(3)H-D-mannosamine. Radioactive gangliosides were isolated and selectively degraded with bacterial neuraminidase and rat liver beta-galactosidase to Tay-Sachs ganglios...

In this paper we present methodology of categorization of musical instruments sounds, aiming at the continuing goal of codifying the classification of these sounds for automating indexing and retrieval purposes. The proposed categorization is based on numerical parameters. The motivation for this paper is based upon the fallibility of Hornbostel and Sachs generic classification scheme, most com...

Anatomical and physiological observations on lesions in the cerebellar nuclei in Macacus rhesus (preliminary report). By Ernest Sachs MD and Edgar F. Fincher, Jr MD, Fellow in Neurological Surgery, St Louis, Missouri, USA (Brain 1927; 50: 350–356); with Symptomatology of a group of frontal lobe lesions. By Ernest Sachs MD, St Louis, Missouri, USA (Brain 1927; 50: 474–479); with The subpial rese...

Tay-Sachs disease is an inherited disorder in which the alpha chain of the lysosomal enzyme beta-N-acetylhexosaminidase A bears the mutation. Ashkenazi Jews are found to be carriers for a severe type of Tay-Sachs disease, the classic form, 10 times more frequently than the general population. Ashkenazi Jewish patients with classic Tay-Sachs disease have appeared to be clinically and biochemical...