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Muscle Nerve. 2014 May;49(5):768-71. doi: 10.1002/mus.24146. Epub 2014 Feb 24.

Atypical presentation of late-onset Tay-Sachs disease.

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  • 1Department of Neurology, Beth Israel Medical Center, New York, New York, USA; University of Pennsylvania, Parkinson Disease and Movement Disorders Center, 330 S. 9th Street, 2nd Floor, Suite 219, Philadelphia, Pennsylvania, 19107, USA.



Late-onset Tay-Sachs disease (LOTS) is a lysosomal storage disease caused by deficient Beta-hexosaminidase A activity.


We describe a 53-year-old woman who presented with adult-onset leg weakness, and whose initial diagnosis was progressive muscular atrophy without identifiable etiology. Development of cerebellar ataxia in mid-life prompted reassessment.


Beta-hexosaminidase A quantification assay demonstrated absence of the isozyme. Genetic testing identified compound heterozygous mutations in the HEXA gene, confirming the diagnosis of LOTS.


The phenotypic spectrum of LOTS includes motor neuronopathy, ataxia, choreoathetosis, neuropathy, and psychiatric symptoms in various combinations. This patient highlights the emergence of different clinical features over many years and emphasizes the need to consider LOTS in the differential diagnosis of progressive muscular atrophy.

Copyright © 2013 Wiley Periodicals, Inc.


ataxia; cerebellum; hexosaminidase; late-onset Tay-Sachs disease; progressive muscular atrophy

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