Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease
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.
Conclusion: HSCT is a potential treatment option which might arrest neurodegeneration in patients with LOTS.
KeywordsHaematopoietic stem cell transplantation Late onset Tay-Sachs disease
GalNAc beta1-4 Gal beta 1-4 Glc-ceramide
GalNAc beta 1-4 [NeuAc alpha 2-3] Gal beta 1-4 Glc-ceramide
- Hexa A/B
Haematopoietic stem cell
Haematopoietic stem cell transplantation
GlcNAc beta1-3 Gal beta 1-4 Glc-ceramide
Lysosomal storage disease
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