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Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents
Published on: August 10, 2018
Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase
Tyler Mark Pierson1, Paola A Torres, Bei-Jin Zeng
1Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA. tyler.pierson@cshs.org
Abstract:
A 12 year-old female presented with a seven-year history of progressive muscle weakness, atrophy, tremor and fasciculations. Cognition was normal. Rectal biopsy revealed intracellular storage material and biochemical testing indicated low hexosaminidase activity consistent with juvenile-onset G(M2)-gangliosidosis. Genetic evaluation revealed compound heterozygosity with two novel mutations in the hexosaminidase β-subunit (c.512-3 C>A and c.1613+15_1613+18dup). Protein analysis was consistent with biochemical findings and indicated only a small portion of β-subunits were properly processed. These results provide additional insight into juvenile-onset G(M2)-gangliosidoses and further expand the number of β-hexosaminidase mutations associated with motor neuron disease.
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