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Haematopoietic stem cell transplantation arrests the progression of neurodegenerative disease in late-onset Tay-Sachs disease

Authors :
Frances M. Platt
Simon Jones
David A. Priestman
Su Han Lum
Christian J. Hendriksz
Ana Jovanovic
Karolina M. Stepien
James E. Wraith
Heather J. Church
Rob Wynn
Source :
JIMD Reports ISBN: 9783662580806
Publication Year :
2018
Publisher :
Springer, Berlin, Heidelberg, 2018.

Abstract

Tay-Sachs disease is a rare metabolic disease caused by a deficiency of hexosaminidase A that leads to accumulation of GM2 gangliosides predominantly in neural tissue. Late-onset Tay-Sachs disease variant is associated with a higher level of residual HexA activity. Treatment options are limited, and there are a few described cases who have undergone haematopoietic stem cell transplantation (HSCT) with variable outcome.We describe a case of a 23-year-old male patient who presented with a long-standing tremor since 7 years of age. He had gait ataxia, a speech stammer and swallowing problems. His condition had had a static course apart from his tremor that had been gradually deteriorating. Because of the deterioration in his neurological function, the patient had an uneventful, matched-sibling donor bone marrow transplant at the age of 15 years. Eight years post-HSCT, at the age of 23, he retains full donor engraftment, and his white cell beta-HexA of 191 nmol/mg/h is comparable to normal controls (in-assay control = 187). He continues to experience some intentional tremor that is tolerable for daily life and nonprogressive since HSCT.HSCT is a potential treatment option which might arrest neurodegeneration in patients with LOTS.

Details

Language :
English
ISBN :
978-3-662-58080-6
ISBNs :
9783662580806
Database :
OpenAIRE
Journal :
JIMD Reports ISBN: 9783662580806
Accession number :
edsair.doi.dedup.....8235216c228fe3463aa274882fd31b49
Full Text :
https://doi.org/10.1007/8904_2017_76