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Tay-Sachs Disease
Jose Americo Fernandes Filho, MD;
Barbara E. Shapiro, MD, PhD
Arch Neurol. 2004;61:1466-1468.
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INTRODUCTION
Tay-Sachs disease is an autosomal recessive disease caused by a deficiency of  -hexosaminidase A, the lysosomal enzyme that normally degrades GM2 ganglioside. As a result, GM2 ganglioside accumulates in the lysosomes of nerve cells. The disease is one of a family of lysosomal storage disorders known as GM2 gangliosidoses, each determined by the specific peptide ( and subunits of -hexosaminidase A and the GM2 activator protein) that is defective in the degradation of GM2 ganglioside.1 While Tay-Sachs disease commonly refers to the classic infantile form of this GM2 gangliosidosis (also called type 1 GM2 gangliosidosis), wherein -hexosaminidase A is virtually absent, juvenile and late-onset forms also occur when there is residual enzymatic activity. The highest carrier rate has been among Ashkenazic Jews, although the incidence has decreased among this population because of widespread carrier screening, while clusters remain among certain . . . [Full Text of this Article]
DESCRIPTION OF THE CLINICAL PHENOTYPE AND EARLY PATHOLOGY
DESCRIPTION OF THE GENETIC AND BIOCHEMICAL DEFECTS
PERSPECTIVES FOR THE FUTURE
AUTHOR INFORMATION
Author Affiliations: University Hospitals of Cleveland, Case Western Reserve University School of Medicine, Cleveland, Ohio.
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ABSTRACT
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