Table A
Comparative performance in neuropsychological assessment on April 2019, October 2019 and June 2020. WAIS-IV Wechsler Adult Intelligence Test; IQ Intellectual quotient; HVLT-R Hopkins Verbal Learning Test Revised; ROCF Rey-Osterrieth Complex Figure. *Trail Making Test score reported in seconds. B. Clinical Manifestations and Brain MRI Changes Reported in Pathogenic Variants in DNM1.
| A) | PRE-SURGICAL ASSESSMENT | POST-SURGICAL ASSESSMENT 1 | POST-SURGICAL ASSESSMENT 2 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| RAW SCORE | PERCENTILE SCORE | QUALITATIVE DESCRIPTION | RAW SCORE | PERCENTILE SCORE | QUALITATIVE DESCRIPTION | RAW SCORE | PERCENTILE SCORE | QUALITATIVE DESCRIPTION | |
| Intelligence (WAIS-IV) | |||||||||
| Full scale IQ | 47 | <0.1 | Deficient – moderate | 51 | 0.1 | Deficient – moderate | 48 | <0.1 | Deficient – moderate |
| Verbal comprehension | 50 | <0.1 | Deficient – moderate | 56 | 0.2 | Deficient – mild | 53 | 0.1 | Deficient – moderate |
| Perceptual reasoning | 50 | <0.1 | Deficient – moderate | 56 | 0.2 | Deficient – mild | 54 | 0.1 | Deficient – moderate |
| Working memory | 52 | 0.1 | Deficient – moderate | 52 | 0.1 | Deficient – moderate | 49 | 0.1 | Deficient – moderate |
| Processing speed | 55 | 0.1 | Deficient – mild | 55 | 0.1 | Deficient – mild | 50 | 0.1 | Deficient – moderate |
| Language | |||||||||
| Boston Denomination Test | 17 | <5 | Deficient | 24 | <5 | Deficient | 24 | <5 | Deficient |
| Token Test (verbal comprehension) | 15 | – | Moderate impairment | 20 | – | Moderate impairment | 19.5 | – | Moderate impairment |
| Verbal fluency (animals) | 1 | <5 | Deficient | 2 | <5 | Deficient | 2 | <5 | Deficient |
| Verbal fluency (letter A) | 1 | <5 | Deficient | 2 | <5 | Deficient | 2 | <5 | Deficient |
| Attention | |||||||||
| Trail Making Test – A* | 187 | <5 | Deficient | 300 | <5 | Deficient | 258 | <5 | Deficient |
| Memory | |||||||||
| HVLT-R word list total learning | 10 | <5 | Deficient | 14 | <5 | Deficient | 10 | <5 | Deficient |
| HVLT-R word list free recall | 3 | <5 | Deficient | 5 | 5-10 | Borderline | 4 | <5 | Deficient |
| ROCF recall | 2 | <5 | Deficient | 2 | <5 | Deficient | 4 | <5 | Deficient |
| Visuospatial skills | |||||||||
| ROCF copy | 2.5 | <5 | Deficient | 4 | <5 | Deficient | 7 | <5 | Deficient |
| Clinical Spectrum Reported in Pathogenic Variants in DNM1 | |||||||||
| B) | DNM1 | ||||||||
| Age of Onset | Infancy/Early Childhood | ||||||||
| Clinical Manifestations | Epileptic Encephalopathy, Neurodevelopmental delay and/or Intellectual Disability, Hypotonia, Spasticity, Myoclonus, Dystonia, Choreoathetosic Movements | ||||||||
| Brain MRI Abnormalities | Cerebral volume loss over time, Delayed myelinations, Thin Corpus Callosum [16] | ||||||||
Video
Generalized dystonia with axial involvement, as well as incoordination and ataxia are seen in the patient. Bilateral GPi-DBS was performed, showing improvement in movement disorders since the third month after surgery. Improvement in movement disorders and epilepsy has been maintained for more than 2 years after surgical treatment.
Figure 1
Brain MRI showing generalized atrophy and striatal hyperintensities (A), cerebellar atrophy and a widened fourth ventricle (B) and thinning of corpus callosum (C). Hippocampal atrophy and structural changes commonly seen in tauopathies are also seen (D).
Figure 2
A 3-moths postoperative CT was co-registered with a T2 sequence preoperative MRI (StealthStation 7, Cranial stereotactic software, Medtronic). Coronal (a), axial (b), and probe’s eye (c) views of the definitive location of the DBS electrodes, (d) shows a parallel reconstruction of the right DBS electrode (Medtronic 3389). The tips of both electrodes were located in the posterolateral region of the ventral GPi, close to the interpallidal lamina. The definitive location coordinates of the electrodes were as follows: rGPi X = 24.7 mm, Y = 1.4 mm, Z = –0.8 mm; lGPi X = 24.5 mm, Y = 1.4 mm, Z = –0.3 mm.