Neurodegenerative disorder with brain iron accumulation previously known as SENDA syndrome now genetically determined

Abstrakt

Commentary to Haack TB, Hogarth P, Kruec Mc, et al. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

Klíčová slova

• Autophagy
• WDR45 mutation
• NBIA
• SENDA