The recent advances in genetics have helped to unravel the cause of many dystonia syndromes. With the broadening spectrum of genetically defined dystonia syndromes, distinct clinico-radiological phenotypes are a welcome handle to guide the diagnostic work up METHODS: We used exome sequencing to elucidate the genetic cause of a syndrome characterized by generalized dystonia, pyramidal and cerebellar involvement with bilateral striatal necrosis (BSN) and cerebellar atrophy on MRI. Homozygosity mapping and linkage analysis were used in a supportive role. Known genetic causes of BSN were excluded by use of exome data or Sanger Sequencing.
PMID: 30897263 [PubMed - as supplied by publisher]