Late‐Onset Tay‐Sachs Disease in an Irish Family
| Autor: | Olivia O' Mahony, Brian Sweeney, Aisling M. Ryan, Stela Lefter |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Dystonia
congenital hereditary and neonatal diseases and abnormalities education.field_of_study Pediatrics medicine.medical_specialty Ataxia business.industry Tay-Sachs disease Population Chorea medicine.disease Ashkenazi jews Neurology Dyskinesia medicine Case Series Cerebellar atrophy Neurology (clinical) medicine.symptom education business |
| Zdroj: | Mov Disord Clin Pract |
| ISSN: | 2330-1619 |
| Popis: | Background Late-onset Tay-Sachs disease (LOTS) is an autosomal-recessive lysosomal storage disease caused by deficient β-hexosaminidase A activity. LOTS is rare in the Ashkenazi Jews, but even rarer in the non-Jewish population. Cases We report an Irish family expanding the LOTS phenotype (ataxia, diffuse muscle wasting, dystonia, chorea, belly dancer's dyskinesia, and neuropsychiatric features) associated with the known HEXA variant 1073 + 1G > A and a novel variant c.459 + 24G > C. Conclusions LOTS should be considered in patients with similar symptoms and cerebellar atrophy on brain imaging. |
| Databáze: | OpenAIRE |
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