Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype.

Abstract excerpt

Hereditary cerebellar ataxias comprise a heterogeneous group of neurodegenerative disorders affecting the cerebellum and/or cerebellar pathways. Next-generation sequencing techniques have contributed substantially to the expansion of ataxia-causing genes, including genes classically described in alternative phenotypes. Herein, we describe a patient with adult-onset cerebellar ataxia, minor dystonia, neuropathy,...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Electroencephalography
• Share to Exome Sequencing