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Atypical presentation of late-onset Tay-sachs disease


  • Andres Deik MD,

    Corresponding author
    1. Department of Neurology, Beth Israel Medical Center, New York, USA
    2. University of Pennsylvania, Philadelphia, Pennsylvania, USA
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  • Rachel Saunders-Pullman MD, MPH

    1. Department of Neurology, Beth Israel Medical Center, New York, USA
    2. Department of Neurology, Albert Einstein College of Medicine, New York, USA
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  • Dr. Deik was supported by a Clinical Research Fellowship from the Dystonia Medical Research Foundation, and was a co-investigator on a grant from the Marcled Foundation. Dr. Saunders-Pullman is supported by NIH-NINDS K02-NS073836. She also received research funding from the Marcled Foundation, and currently receives funding from the Bigglesworth Foundation, the Empire Clinical Research Initiative Program, the Michael J. Fox Foundation for Parkinson's Research, and the Bachmann-Strauss Dystonia and Parkinson's Foundation.


Introduction: Late-onset Tay-Sachs disease (LOTS) is a lysosomal storage disease caused by deficient Beta-hexosaminidase A activity. Methods: 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. Results: 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. Conclusions: 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. Muscle Nerve 49: 768–771, 2014