Topic: RIMBP1

Dystonia is a debilitating movement disorder characterized by abnormal movements and postures. Given the absence of structural lesions in the brain of most dystonic patients, disruption of synaptic function has been long hypothesized to play a pivotal role in dystonia pathogenesis. We recently identified homozygous frameshift, nonsense, and missense variants in TSPOAP1, the gene encoding active zone RIM-binding protein 1 (RIMBP1), as a novel genetic cause of autosomal recessive dystonia (Mencacci et al., JCI, 2021). RIMBP1 is a presynaptic protein that localizes voltage-gated Ca2+ channels (VG