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Publication Detail
Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy.
INTRODUCTION: 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. RESULTS: We identified compound heterozygous mutations in the NUBPL gene in a small UK kindred. The gene lay in a region of positive linkage and segregated with disease in the family of 6 individuals. CONCLUSION: NUBPL mutations cause early onset, autosomal recessive generalized dystonia with cerebellar ataxia, pyramidal signs, preserved cognition and a distinct MRI appearance with BSN and cerebellar atrophy. This article is protected by copyright. All rights reserved.
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