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| Verfasst von: | Balint, Bettina [VerfasserIn]  |
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| | Charlesworth, G. [VerfasserIn] |
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| | Stamelou, M. [VerfasserIn] |
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| | Carr, L. [VerfasserIn] |
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| | Mencacci, N. E. [VerfasserIn] |
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| | Wood, N. W. [VerfasserIn] |
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| | Bhatia, K. P. [VerfasserIn] |
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| Titel: | Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy |
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| Verf.angabe: | B. Balint, G. Charlesworth, M. Stamelou, L. Carr, N.E. Mencacci, N.W. Wood and K.P. Bhatia |
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| E-Jahr: | 2019 |
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| Jahr: | 21 March 2019 |
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| Umfang: | 4 S. |
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| Fussnoten: | Gesehen am 08.06.2020 |
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| Titel Quelle: | Enthalten in: European journal of neurology |
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| Ort Quelle: | Oxford [u.a.] : Wiley-Blackwell, 1994 |
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| Jahr Quelle: | 2019 |
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| Band/Heft Quelle: | 26(2019), 9, Seite 1240-1243 |
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| ISSN Quelle: | 1468-1331 |
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| 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. |
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| DOI: | doi:10.1111/ene.13956 |
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| 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 |
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| | Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1111/ene.13956 |
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| | DOI: https://doi.org/10.1111/ene.13956 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | ataxia |
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| | autosomal recessive |
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| | bilateral striatal necrosis |
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| | dystonia |
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| | NUBPL |
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| K10plus-PPN: | 1700182315 |
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| Verknüpfungen: | → Zeitschrift |
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Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy / Balint, Bettina [VerfasserIn]; 21 March 2019 (Online-Ressource)
