Late-onset Tay–Sachs disease: The spectrum of peripheral neuropathy in 30 affected patients

Molecular analysis of the HEXA gene in I

Molecular analysis of the HEXA gene in Italian patients with infantile and late Onset Tay-Sachs disease: detection of fourteen novel alleles

✍ Anna Lisa E. Montalvo; Mirella Filocamo; Kristian Vlahoviček; Andrea Dardis; Sus 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 890 KB

Tay-Sachs disease (TSD) is a recessively inherited disorder caused by the hexosaminidase A deficiency. We report the molecular characterization performed on 31 Italian patients, 22 with the infantile, acute form of TSD and nine patients with the subacute juvenile form, biochemically classified as B1