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Haematopoietic stem cell transplantation arrests the progression of neurodegenerative disease in late-onset Tay-Sachs disease
- 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.
- Subjects :
- congenital, hereditary, and neonatal diseases and abnormalities
business.industry
Tay-Sachs disease
nutritional and metabolic diseases
Late onset
Disease
010402 general chemistry
HEXA
medicine.disease
01 natural sciences
Article
0104 chemical sciences
Transplantation
03 medical and health sciences
Haematopoiesis
0302 clinical medicine
030225 pediatrics
Immunology
medicine
Hexosaminidase
Stem cell
business
Subjects
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