Scientific Publication 

A New Phenotype for a Known Neurological Disorder

Author(s): Kloth, Katja

Hereditary disorders of the nervous system may present with a wide spectrum of symptoms. Bi-allelic mutations in GBA2, classically associated with abnormal gait, have recently been found to also cause dystonia. This novel observation, to which CENTOGENE contributed the genetic data, was published in the European Journal of Medical Genetics.

Hereditary disorders of the nervous system may present with a wide spectrum of symptoms. Bi-allelic mutations in GBA2, classically associated with abnormal gait, have recently been found to also cause dystonia.


Read publication