Abstract

Tay-Sachs disease (TSD) is an autosomal recessive neurodegenerative disorder characterized by lysosomal enzyme ?-hexosaminidase A deficiency resulting in GM2 ganglioside accumulation mainly in neurons. Here we report about a 30-years old woman from an isolated village of Calabria with early-onset severe bipolar depression and cerebellar ataxia. ?-hexosaminidase A activity determination suggested a diagnosis of TSD.The molecular analysis of the HEXA gene, encoding for the ?-subunit of ?-hexosaminidase A, showed a Gly269Ser mutation in compound heterozygosity with a Leu127Arg change. To the best of our knowledge, the first mutation was never reported in Italy, whereas Leu127Arg has been identified in two Italian acute infantile TSD. We believe that the clinical phenotype of our patient is quite unusual since she presented a very early (9 years) severe bipolar depression as the first clinical onset of the disease. At present, the patient is 38-years old and she can be therefore classified as "juvenile-chronic TSD". Moreover, this case suggests a probable high frequency of HEXA mutations in Calabria. In fact, the proband's parents although consanguineous and originating from the same and isolated village of south Italy, carried two different mutations. This occurrence might be due to a founder effect in an area of Jewish origin. We believe that the identification of TSD carriers might have important implications in the genetic counseling of this population.

Autore Pugliese

• Liguori Maria

Tutti gli autori

• Liguori M.; Tagarelli G.; Romeo N.; Bagalà A.; Spadafora P.

Titolo volume/Rivista

Neurological sciences

Anno di pubblicazione

2016

ISSN

1590-1874

ISBN

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Numero di citazioni Wos

Nessuna citazione

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Settori ERC

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