Generalized Dystonia and Paroxysmal Dystonic Attacks due to a Novel Variant.

Background: Paroxysmal movement disorders are a heterogeneous group of neurological diseases, better understood in recent years thanks to widely available genetic testing.

Case Report: A pair of monozygotic twins with dystonia and paroxysmal attacks, resembling paroxysmal non-kinesigenic dyskinesias, due to a novel variant are reported. The complete resolution of their paroxysms was achieved using levodopa and deep brain stimulation of the internal globus pallidus.

Beyond dystonia and ataxia: Expanding the phenotype of SQSTM1 mutations.

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

Objective: To describe four new cases with additional phenotypical features.