| Title: |
Anatomical categorization of isolated non-focal dystonia: novel and existing patterns using a data-driven approach |
| Authors: |
Younce, J. R.; Cascella, R. H.; Berman, B. D.; Jinnah, H. A.; Bellows, S; Feuerstein, J.; Wagle Shukla, A.; Mahajan, A.; Chang, F. C. F.; Duque, K. R.; Reich, S.; Pirio Richardson, S.; Deik, A.; Stover, N.; Luna, J. M.; Norris, S. A. |
| Contributors: |
National Institutes of Health; Allergan; Merz Pharmaceuticals; Benign Essential Blepharospasm Research Foundation; Dystonia Medical Research Foundation; National Spasmodic Dysphonia Association |
| Source: |
Dystonia ; volume 2 ; ISSN 2813-2106 |
| Publisher Information: |
Frontiers Media SA |
| Publication Year: |
2023 |
| Collection: |
Frontiers (Publisher - via CrossRef) |
| Description: |
According to expert consensus, dystonia can be classified as focal, segmental, multifocal, and generalized, based on the affected body distribution. To provide an empirical and data-driven approach to categorizing these distributions, we used a data-driven clustering approach to compare frequency and co-occurrence rates of non-focal dystonia in pre-defined body regions using the Dystonia Coalition (DC) dataset. We analyzed 1,618 participants with isolated non-focal dystonia from the DC database. The analytic approach included construction of frequency tables, variable-wise analysis using hierarchical clustering and independent component analysis (ICA), and case-wise consensus hierarchical clustering to describe associations and clusters for dystonia affecting any combination of eighteen pre-defined body regions. Variable-wise hierarchical clustering demonstrated closest relationships between bilateral upper legs (distance = 0.40), upper and lower face (distance = 0.45), bilateral hands (distance = 0.53), and bilateral feet (distance = 0.53). ICA demonstrated clear grouping for the a) bilateral hands, b) neck, and c) upper and lower face. Case-wise consensus hierarchical clustering at k = 9 identified 3 major clusters. Major clusters consisted primarily of a) cervical dystonia with nearby regions, b) bilateral hand dystonia, and c) cranial dystonia. Our data-driven approach in a large dataset of isolated non-focal dystonia reinforces common segmental patterns in cranial and cervical regions. We observed unexpectedly strong associations between bilateral upper or lower limbs, which suggests that symmetric multifocal patterns may represent a previously underrecognized dystonia subtype. |
| Document Type: |
article in journal/newspaper |
| Language: |
unknown |
| DOI: |
10.3389/dyst.2023.11305 |
| DOI: |
10.3389/dyst.2023.11305/full |
| Availability: |
https://doi.org/10.3389/dyst.2023.11305; https://www.frontierspartnerships.org/articles/10.3389/dyst.2023.11305/full |
| Rights: |
https://creativecommons.org/licenses/by/4.0/ |
| Accession Number: |
edsbas.A4405052 |
| Database: |
BASE |