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Generalized Dystonia and Paroxysmal Dystonic Attacks due to a Novel ATP1A3 Variant Cover

Figures & Tables

Video 1

The Video Shows the Dystonic Posturing Seen in Case 1, while Minor Dystonia Was Noted in Case 2 during Interictal State. The second segment of the video shows paroxysmal dystonic attacks in both cases.

Table 1

Results of Neuropsychological Assessment

Percentile RankQualitative DescriptionPercentile RankQualitative Description
Intelligence (WAIS-IV)
Full-scale (intellectual quotient)3Borderline5Borderline
Verbal comprehension14Below average16Below average
Perceptual reasoning2Deficient4Borderline
Working memory1Deficient1Deficient
Processing speed1Deficient6Borderline
Attention
Stroop interference index5Borderline1Deficient
Language
Test Barcelona fluency and grammar-Average-Average
Semantic verbal fluency5Borderline15Below average
Test Barcelona verbal repetition-Average-Average
Test Barcelona complex verbal comprehension10Below average10Below average
Test Barcelona Text reading-Slow with additions and substitutions-Slow with additions
Memory
CVLT word list learning-Below average-Deficient
CVLT word list recall-Average-Average
Test Batrcelona texts memory10Below average40Average
Test Barcelona visual memory1Deficient1Deficient
Rey–Osterrieth complex figure recall1Deficient2Deficient
Visuospatial skills
Rey–Osterrieth complex figure copy1Deficient10Below average
Test Barcelona constructional praxis1Deficient10Below average
Executive functions
ToL total moves74Average74Average
ToL rule violations1Deficient21Below Average
ToL initiation time82Above average72Average
ToL execution time5Borderline13Below Average

[i] Abbreviations: CVLT, California Verbal Learning Test; ToL: Tower of London Drexel University; WAIS-IV: Wechsler Adult Intelligence Scale.

Video 2

The Video Shows Improvement of Dystonia in Case 1 after GPi DBS (Parameters on Each Side Were: −1 +3, 6.5 V, 60 Microseconds, 185 Hz) and Resolution of Dystonia in Case 2 after Oral Levodopa Was Started. None of the cases showed dystonic paroxysms after treatment was initiated.

DOI: https://doi.org/10.5334/tohm.490 | Journal eISSN: 2160-8288
Language: English
Submitted on: Aug 26, 2019
Accepted on: Nov 19, 2019
Published on: Dec 13, 2019
Published by: Columbia University Libraries/Information Services
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2019 Carlos Zúñiga-Ramírez, Mirelle Kramis-Hollands, Rodrigo Mercado-Pimentel, Héctor Alberto González-Usigli, Michel Sáenz-Farret, Alberto Soto-Escageda, Alfonso Fasano, published by Columbia University Libraries/Information Services
This work is licensed under the Creative Commons License.