Identification of a patient affected by "Juvenile-chronic" Tay Sachs disease in South Italy

Neurol Sci. 2016 Nov;37(11):1883-1885. doi: 10.1007/s10072-016-2646-2. Epub 2016 Jun 28.

Authors

M Liguori¹, G Tagarelli², N Romeo², A Bagalà², Patrizia Spadafora³

Affiliations

¹ Institute of Biomedical Technologies, National Research Council, Section of Bari, Bari, Italy.
² Institute of Neurological Sciences, National Research Council, c/da Burga, 87050, Piano Lago di Mangone, CS, Italy.
³ Institute of Neurological Sciences, National Research Council, c/da Burga, 87050, Piano Lago di Mangone, CS, Italy. patrizia.spadafora@cnr.it.

PMID: 27351546
DOI: 10.1007/s10072-016-2646-2

No abstract available

Keywords: Ataxia; Hexa gene; Juvenile-chronic onset; Psychosis; TSD; Tay Sachs.

Publication types

Case Reports
Letter

MeSH terms

Adult
Consanguinity
Female
Humans
Italy
Tay-Sachs Disease / genetics*
Tay-Sachs Disease / physiopathology*

Supplementary concepts

Tay-Sachs Disease, Juvenile