Late-Onset Tay-Sachs Disease in an Irish Family.
Mov Disord Clin Pract
; 8(1): 106-110, 2021 Jan.
Article
em En
| MEDLINE
| ID: mdl-33426165
ABSTRACT
BACKGROUND:
Late-onset Tay-Sachs disease (LOTS) is an autosomal-recessive lysosomal storage disease caused by deficient ß-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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article