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Alonso-Pérez J, Casasús A, Gimenez-Muñoz Á, et al. Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering. Neuromuscul Disord. 2021;31(8):769-772doi: 10.1016/j.nmd.2021.04.011.
Alonso-Pérez, J., Casasús, A., Gimenez-Muñoz, �. �., Duff, J., Rojas-Garcia, R., Illa, I., Straub, V., Töpf, A., & Díaz-Manera, J. (2021). Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering. Neuromuscular disorders : NMD, 31(8), 769-772. https://doi.org/10.1016/j.nmd.2021.04.011
Alonso-Pérez, Jorge, et al. "Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering." Neuromuscular disorders : NMD vol. 31,8 (2021): 769-772. doi: https://doi.org/10.1016/j.nmd.2021.04.011
Alonso-Pérez J, Casasús A, Gimenez-Muñoz Á, Duff J, Rojas-Garcia R, Illa I, Straub V, Töpf A, Díaz-Manera J. Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering. Neuromuscul Disord. 2021 Aug;31(8):769-772. doi: 10.1016/j.nmd.2021.04.011. Epub 2021 May 27. PMID: 34210542.
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Neuromuscul Disord. 2021 Aug;31(8):769-772. doi: 10.1016/j.nmd.2021.04.011. Epub 2021 May 27.

Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering.

Neuromuscular disorders : NMD

Jorge Alonso-Pérez, Ana Casasús, Álvaro Gimenez-Muñoz, Jennifer Duff, Ricard Rojas-Garcia, Isabel Illa, Volker Straub, Ana Töpf, Jordi Díaz-Manera

Affiliations

  1. Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
  2. The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, United Kingdom; Neuromuscular Research Unit, IIS La Fe, Valencia, Spain.
  3. Department of Neurology, Royo Villanova Hospital, Zaragoza, Spain.
  4. The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, United Kingdom.
  5. Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Spain.
  6. Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, United Kingdom; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Spain. Electronic address: [email protected].

PMID: 34210542 DOI: 10.1016/j.nmd.2021.04.011

Abstract

Defects in the HEXB gene which encodes the β-subunit of β-hexosaminidase A and B enzymes, cause a GM2 gangliosidosis, also known as Sandhoff disease, which is a rare lysosomal storage disorder. The most common form of the disease lead to quickly progressing mental and motor decline in infancy; however there are other less severe forms with later onset that can also involve lower motor neurons. The diagnosis of this disease is based on low serum β-hexosaminidases A and B levels and confirmed using genetic test. We report two siblings with compound heterozygous HEXB mutations whose phenotype was extremely mild consisting in stuttering in both cases associated to mild proximal weakness in one of the cases, broadening the clinical spectrum of late onset Sandhoff disease.

Copyright © 2021 Elsevier B.V. All rights reserved.

Keywords: GM2 gangliosidosis; Lower motor neuron disease; Sandhoff disease; Whole exome sequencing

Conflict of interest statement

Declaration of Competing Interest All authors report no competing interests.

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