Tay-Sachs disease: pathology
Evidence-based neurology checklist on tay-sachs disease: pathology: Pathology and genetics This is a lysosomal sphingolipid storage disorder This is caused by mutations in the HEXA gene The gene encodes β-hexosaminidase A The transmission is autosomal recessive Types Synonym
Pathology and genetics
- This is a lysosomal sphingolipid storage disorder
- This is caused by mutations in the HEXA gene
- The gene encodes β-hexosaminidase A
- The transmission is autosomal recessive
Types
Synonym
References
- Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol 2007; 6:245-257.
- Lew RM, Burnett L, Proos AL, Delatycki MB. Tay-Sachs disease: current perspectives from Australia. Appl Clin Genet 2015; 8:19-25.
- Shapiro BE, Logigian EL, Kolodny EH, Pastores GM. Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients. Muscle Nerve 2008; 38:1012-1015.
- Picache JA, Zheng W, Chen CZ. Therapeutic strategies For Tay-Sachs disease. Front Pharmacol 2022; 13:906647.
- Shapiro BE, Hatters-Friedman S, Fernandes-Filho JA, Anthony K, Natowicz MR. Late-onset Tay-Sachs disease: adverse effects of medications and implications for treatment. Neurology 2006; 67:875-877.
