Dystonia and tremor: Do they have a shared biology?

Lenka, Abhishek; Pandey, Sanjay

doi:10.1016/bs.irn.2023.04.002

Cited by 2 publications

(2 citation statements)

References 111 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Following Yanagisawa and Goto's original study, irregular or jerky tremors were repeatedly described in patients with dystonia 43 . Irregularity has later been defined objectively as a cycle‐to‐cycle variability of the tremor frequency observed in patients with cervical dystonia 44 .…”

Section: Resultsmentioning

confidence: 99%

“…Following Yanagisawa and Goto's original study, irregular or jerky tremors were repeatedly described in patients with dystonia. 43 Irregularity has later been defined objectively as a cycleto-cycle variability of the tremor frequency observed in patients with cervical dystonia. 44 The term dystonic tremor was increasingly used to indicate a characteristically coarse, jerky, irregular, directional and asymmetrical tremor.…”

Section: Reviewmentioning

confidence: 99%

See 1 more Smart Citation

Dystonic Tremor: Time to Change

Lalli,

Albanese

2024

Movement Disord Clin Pract

View full text Add to dashboard Cite

BackgroundThe term dystonic tremor is being increasingly used in neurological publications despite uncertainties about its meaning. We provide here a historical reconstruction from its original introduction in 1984 to help distinguish dystonia from essential tremor.MethodsA comprehensive Pubmed search of MeSH terms “dystonia”, “tremor”, and “essential tremor” provided the information base for reconstructing historical usage of the term “dystonic tremor”.ResultsOver the years, this expression was enriched of additional meanings and sided by companion descriptors, such as tremor associated with dystonia. Dystonic tremor has been considered characteristically coarse, jerky, irregular, directional and asymmetrical. These characteristics, however, are not included in the most recent definitions of tremor. The relationship between tremor and dystonia is not easy to untangle, as the two phenomena are often recognized in association. Tremor and dystonia experts have developed different visions of dystonic tremor that have been variably implemented. There are currently two independent consensus definitions, which are not coincident and imply different pathophysiological interpretations.ConclusionsThis historical reappraisal highlights that usage of the expression dystonic tremor has evolved over time to lose its original meaning. Notwithstanding inconsistencies of current definitions, its usage has steadily increased and it is time now to agree on an updated terminology.

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Reviewmentioning

confidence: 99%

Dystonic Tremor: Time to Change

Lalli,

Albanese

2024

Movement Disord Clin Pract

View full text Add to dashboard Cite

show abstract

Effort to differentiate essential tremor plus and dystonic tremor using whole exome sequencing: an exploratory study

Pandey,

Yadav,

Dinesh

et al. 2024

Dystonia

View full text Add to dashboard Cite

BackgroundThe clinical differentiation between essential tremor plus (ETP) and dystonic tremor (DT) is challenging. This study aimed at the genetic diagnosis of ETP and DT.MethodsWhole exome sequencing was performed on 50 probands (ETP = 25; DT = 25) and analysed to identify variants in known genes linked with dystonia and essential tremor plus phenotypes.ResultsWe identified pathogenic/likely pathogenic variants [THAP1 (n = 1) and ANO3 (n = 1)] in two patients with DT. In addition, one DT patient had a variant of uncertain significance in FUS and four patients had benign variants [CIZ1 (n = 1), COL6A3 (n = 1), GCH1 (n = 1), TENM4 (n = 1)]. One patient with ETP was detected to have a variant of uncertain significance in TENM4 and five patients with ETP had benign variants [COL6A3 (n = 2), VPS16 (n = 1), TAF1 (n = 1), KMT2B (n = 1)].ConclusionGenetic studies may be in an important biomarker in differentiating patients with ET plus from DT which is challenging in a clinical setting.

show abstract

Dystonia and tremor: Do they have a shared biology?

Cited by 2 publications

References 111 publications

Dystonic Tremor: Time to Change

Dystonic Tremor: Time to Change

Effort to differentiate essential tremor plus and dystonic tremor using whole exome sequencing: an exploratory study

Contact Info

Product

Resources

About