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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Detalhes bibliográficos
Publicado no:Acta Neuropathol Commun
Main Authors: Paudel, Reema, Kiely, Aoife, Li, Abi, Lashley, Tammaryn, Bandopadhyay, Rina, Hardy, John, Jinnah, Hyder A, Bhatia, Kailash, Houlden, Henry, Holton, Janice L
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Research
Acesso em linha: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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