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Open Access 01-12-2014 | Research

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

Authors: Reema Paudel, Aoife Kiely, Abi Li, Tammaryn Lashley, Rina Bandopadhyay, John Hardy, Hyder A Jinnah, Kailash Bhatia, Henry Houlden, Janice L Holton

Published in: Acta Neuropathologica Communications | Issue 1/2014

Abstract

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 showing no significant abnormalities. In one study, brainstem intraneuronal inclusions immunoreactive for ubiquitin, torsinA and lamin A/C were described. Using the largest series reported to date comprising 7 DYT1 cases, we aimed to identify consistent neuropathological features in the disease and determine whether we would find the same intraneuronal inclusions as previously reported.

Result

The pathological changes of brainstem inclusions reported in DYT1 dystonia were not replicated in our case series. Other anatomical regions implicated in dystonia showed no disease-specific pathological intracellular inclusions or evidence of more than mild neuronal loss.

Conclusion

Our findings suggest that the intracellular inclusions described previously in DYT1 dystonia may not be a hallmark feature of the disorder. In isolated dystonia, DYT1 in particular, biochemical changes may be more relevant than the morphological changes.

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Title: Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions
Authors: Reema Paudel
Aoife Kiely
Abi Li
Tammaryn Lashley
Rina Bandopadhyay
John Hardy
Hyder A Jinnah
Kailash Bhatia
Henry Houlden
Janice L Holton
Publication date: 01-12-2014
Publisher: BioMed Central
Published in: Acta Neuropathologica Communications / Issue 1/2014
Electronic ISSN: 2051-5960
DOI: https://doi.org/10.1186/s40478-014-0159-x

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Introduction

Result

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Introduction

Result

Conclusion

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