Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.

Objectives: The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number of causative genes have not yet been recognized. We aimed to investigate this paucity of diagnoses.

Methods: We undertook weighted burden analysis of whole-exome sequencing (WES) data from 138 individuals with unresolved generalized dystonia of suspected genetic etiology, followed by additional case-finding from international databases, first for the gene implicated by the burden analysis (VPS16), and then for other functionally related genes.

Anterior and posterior sagittal shift in cervical dystonia: a clinical and electromyographic study, including a new EMG approach of the longus colli muscle.

Anterior and posterior sagittal shift of the head are less common postures in cervical dystonia and, as such, have not been comprehensively studied. In this article, we have detailed both our clinical and electromyography (EMG) findings in 11 patients with prominent dystonic sagittal shift of the head. A new technique of injection of the longus colli, based on a laterocervical approach under EMG guidance, is described.