Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions

INTRODUCTION: Early onset isolated dystonia (DYT1) is linked to a three base pair deletion (ΔGAG) mutation in the TOR1A gene. Clinical manifestation includes intermittent muscle contraction leading to twisting movements or abnormal postures. Neuropathological studies on DYT1 cases are limited, most...

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Dades bibliogràfiques
Publicat a:Acta Neuropathol Commun
Autors principals: Paudel, Reema, Kiely, Aoife, Li, Abi, Lashley, Tammaryn, Bandopadhyay, Rina, Hardy, John, Jinnah, Hyder A, Bhatia, Kailash, Houlden, Henry, Holton, Janice L
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2014
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4247124/
https://ncbi.nlm.nih.gov/pubmed/25403864
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-014-0159-x
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