| Online-Ressource |
Verfasst von: | Balint, Bettina [VerfasserIn]  |
| Charlesworth, G. [VerfasserIn]  |
| Stamelou, M. [VerfasserIn]  |
| Carr, L. [VerfasserIn]  |
| Mencacci, N. E. [VerfasserIn]  |
| Wood, N. W. [VerfasserIn]  |
| Bhatia, K. P. [VerfasserIn]  |
Titel: | Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy |
Verf.angabe: | B. Balint, G. Charlesworth, M. Stamelou, L. Carr, N.E. Mencacci, N.W. Wood and K.P. Bhatia |
E-Jahr: | 2019 |
Jahr: | 21 March 2019 |
Umfang: | 4 S. |
Fussnoten: | Gesehen am 08.06.2020 |
Titel Quelle: | Enthalten in: European journal of neurology |
Ort Quelle: | Oxford [u.a.] : Wiley-Blackwell, 1994 |
Jahr Quelle: | 2019 |
Band/Heft Quelle: | 26(2019), 9, Seite 1240-1243 |
ISSN Quelle: | 1468-1331 |
Abstract: | Background and purpose 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 Exome sequencing was used 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 magnetic resonance imaging. 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 Compound heterozygous mutations were identified in the NUBPL gene in a small UK kindred. The gene lay in a region of positive linkage and segregated with disease in a family of six individuals. Conclusion NUBPL mutations cause early onset, autosomal recessive generalized dystonia with cerebellar ataxia, pyramidal signs, preserved cognition and a distinct magnetic resonance imaging appearance with BSN and cerebellar atrophy. |
DOI: | doi:10.1111/ene.13956 |
URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext ; Verlag: https://doi.org/10.1111/ene.13956 |
| Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1111/ene.13956 |
| DOI: https://doi.org/10.1111/ene.13956 |
Datenträger: | Online-Ressource |
Sprache: | eng |
Sach-SW: | ataxia |
| autosomal recessive |
| bilateral striatal necrosis |
| dystonia |
| NUBPL |
K10plus-PPN: | 1700182315 |
Verknüpfungen: | → Zeitschrift |
Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy / Balint, Bettina [VerfasserIn]; 21 March 2019 (Online-Ressource)