Beyond dystonia and ataxia: Expanding the phenotype of SQSTM1 mutations

Homozygous sequestomosome-1 gene mutations have been recently linked to neurodegeneration with dystonia, ataxia and gaze palsy. Seven affected families were identified thus far.

Source: Parkinsonism and Related Disorders - January 2, 2019 Category: Neurology Authors: Carlos Z úñiga-Ramírez, Lais Machado de Oliveira, Mirelle Kramis-Hollands, Musleh Algarni, Alberto Soto-Escageda, Michel Sáenz-Farret, Héctor Alberto González-Usigli, Alfonso Fasano Tags: Short communication Source Type: research