Article
Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India.
Parkinsonism & related disorders - 1 Jul 2024
Garg Divyani, Holla Vikram V, Ganguly Jacky, Rajan Roopa, Saini Arti, Agarwal Ayush, Radhakrishnan Divya M, Basu Purba, Mondal Banashree, Dhar Debjyoti, Kamble Nitish, Yadav Ravi, Muthusamy Babylakshmi, Kumar Hrishikesh, Srivastava Achal Kumar, Pal Pramod Kumar
Abstract excerpt
BACKGROUND: Variants in the TUBB4A gene are associated with dystonia (DYT-TUBB4A), Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC) and spastic paraplegia. Phenotypes intermediate to these three broad phenotypes are also observed. These are rare disorders, and data from diverse populations remains limited. We report seven Indian cases with dystonia phenotype related to TUBB4A mutation....
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