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

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

Research output: Contribution to journalReview articlepeer-review

17 Scopus citations


Introduction: Early onset isolated dystonia (DYT1) is linked to a three base pair deletion ((increment)GAG) 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.

Original languageEnglish
Article number159
JournalActa neuropathologica communications
Issue number1
StatePublished - 27 Jan 2014
Externally publishedYes


  • DYT1
  • Inclusions
  • Isolated dystonia
  • Neuropathology


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