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Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy

Balint, B; Charlesworth, G; Stamelou, M; Carr, L; Mencacci, NE; Wood, NW; Bhatia, KP; (2019) Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy. European Journal of Neurology 10.1111/ene.13956. (In press). Green open access

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Abstract

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.

Type: Article
Title: Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1111/ene.13956
Publisher version: http://doi.org/10.1111/ene.13956
Language: English
Additional information: This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
Keywords: NUBPL, ataxia, autosomal recessive, bilateral striatal necrosis, dystonia
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10071188
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