Kaiyrzhanov, Rauan;
Guliyeva, Ulviyya;
Gulieva, Sughra;
Salayev, Kamran;
Mursalova, Aytan;
Allahyarova, Parvin;
Ferla, Matteo P;
(2021)
GM1-Gangliosidosis Type III Associated Parkinsonism.
Movement Disorders Clinical Practice
, 8
(S1)
S21-S23.
10.1002/mdc3.13289.
Preview |
PDF
GM1-Gangliosidosis Type III Associated Parkinsonism.pdf - Accepted Version Download (5MB) | Preview |
Abstract
GLB1 encodes beta-galactosidase-1, a lysosomal hydrolase that cleaves the terminal beta-galactose from ganglioside substrates. Biallelic variants in GLB1 cause beta-galactosidase deficiency leading to GM1 gangliosidosis.1 Type III GM1 gangliosidosis shows extreme clinical variability and is less severe than GM1-gangliosidosis types I and II.2 Here we describe a new family with GM1-gangliosidosis type III extending the geographic range of reported cases to Transcaucasia and expanding the disease phenotype.
Archive Staff Only
 |
View Item |
