Neurol. praxi. 2023;24(6):481-483 | DOI: 10.36290/neu.2023.049

Adult form of Tay-Sachs disease: a video case report

MUDr. Zuzana André1, MUDr. Martina Chovancová1, MUDr. Michaela Pietrzyková3, MUDr. Alice Martinkovičová, PhD.1, prof. MUDr. Peter Valkovič, PhD.1, 2, doc. MUDr. Zuzana Košutzká, PhD.1
1 II. neurologická klinika LF UK a UN Bratislava
2 Ústav normálnej a patologickej fyziológie, Centrum experimentálnej medicíny Slovenskej akadémie vied, Bratislava
3 Ústav lekárskej biológie, genetiky a klinickej genetiky LF UK a UN Bratislava

Tay-Sachs disease is a rare autosomal recessive disorder caused by β-hexosaminidase A (HexA) enzyme deficiency. There is accumulation of GM2 gangliosides in neuronal lysosomes, which potentiates their toxic effect, thus inducing gradual neurodegeneration. The exact mechanism triggering neuronal death is still unknown. Due to the preserved residual HexA enzyme activity, the adult form of the disease tends to have a milder course than the infantile form. The clinical presentation is non-specific; hence, the disease is significantly underdiagnosed. Our video case report presents a 49-year-old patient with a genetically confirmed diagnosis of adult Tay-Sachs disease.

Keywords: Tay-Sachs disease, β-hexosaminidase A, cerebellar ataxia.

Received: May 29, 2023; Revised: June 26, 2023; Accepted: July 10, 2023; Prepublished online: July 10, 2023; Published: December 7, 2023  Show citation

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André Z, Chovancová M, Pietrzyková M, Martinkovičová A, Valkovič P, Košutzká Z. Adult form of Tay-Sachs disease: a video case report. Neurol. praxi. 2023;24(6):481-483. doi: 10.36290/neu.2023.049.

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