RESUMEN
Myoclonus is defined as a brief and jerky shock-like involuntary movement caused by abrupt muscle contraction or sudden cessation of ongoing muscular activity. Myoclonus can be generated by abnormal activity in different parts of the nervous system, both peripheral and central, including cortical and subcortical structures. According to the presumed neural generator, myoclonus is classified as cortical, subcortical (including myoclonus-dystonia and brainstem/reticular myoclonus), spinal (including segmental spinal and propriospinal myoclonus), and peripheral. The identification of myoclonus subtypes, and therefore its potential source, is clinically important because it can guide diagnosis and treatment. In this video lecture (Video), we reviewed how to determine myoclonus origin. We first reviewed the clinical features typical of each myoclonus subtype. We, then, explored the electrophysiological techniques that can aid in the differential diagnosis of myoclonus, based on its origin. In conclusion, we provided a clinical and electrophysiological overview on how to find clues about neural generators of myoclonus.
RESUMEN
Idiopathic basal ganglia calcification (IBGC) or primary familial brain calcification is a rare genetic condition characterized by an autosomal dominant inheritance pattern and the presence of bilateral calcifications in the basal ganglia, thalami, cerebellum and cerebral subcortical white matter. The syndrome is genetically and phenotypically heterogeneous. Causal mutations have been identified in four genes: SLC20A2, PDGFRB, PDGFB and XPR1. A variety of progressive neurological and psychiatric symptoms have been described, including cognitive impairment, movement disorders, bipolar disorder, chronic headaches and migraine, and epilepsy. Here we describe a family with a novel SLC20A2 mutation mainly presenting with neurological symptoms including cortical myoclonus and epilepsy. While epilepsy, although rare, has been reported in patients with IBGC associated with SLC20A2 mutations, cortical myoclonus seems to be a new manifestation.