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. 2022 Jul;269(7):3931-3936.
doi: 10.1007/s00415-022-11057-3. Epub 2022 Mar 14.

NPTX1-related oculomotor apraxia: an intra-hemispheric disconnection disorder

Christoph Helmchen  1   2 , Philipp J Koch  3   4 , Gabriel Girard  5   6   7 , Norbert Brüggemann  3   4 , Björn Machner  3   4 , Andreas Sprenger  3   4   8
Affiliations

NPTX1-related oculomotor apraxia: an intra-hemispheric disconnection disorder

Christoph Helmchen et al. J Neurol. 2022 Jul.
No abstract available

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Fig. 1
Fig. 1
Behavioral data. Horizontal (blue) and vertical (green) visually guided saccades are shown under head-fixed (A) and head-free (B) conditions. During head-fixed condition (A), there are virtually no horizontal visually guided saccades (horizontal target step = dashed line) while she executes vertical saccades during vertical target displacements (gray thick line). During diagonal target displacements, horizontal saccades can be executed with a reasonable amplitude. With the head-free (B), pure horizontal saccades can be elicited with nearly normal amplitude when combined with target-directed head movements (thin gray lines indicate vertical and thicker horizontal head movements)
Fig. 2
Fig. 2
Functional MRI. A−C: Neural activity (axial slices) in the mask comprising FEF and SEF (C, eMethods) during visually guided horizontal and vertical saccades (block design) is shown. FEF and SEF activity during saccades is lower in the patient (A) compared to six healthy control subjects (B). The group-related contrast difference of brain activity (contrast estimates) in bilateral FEF of the patient (blue bar, D) is much lower compared to the healthy control subjects (gray), during different types of saccades (visually guided = VGS, self-paced, i.e., scanning, and memory-guided, i.e., imagined saccades). Structural connectivity (diffusion weighted imaging): E The mean group structural connectivity, measured by the summed COMMIT weights [16] of the oculomotor network in healthy controls (mean with SD) is shown in box plots and the patient’s value in black squares for intra-hemispheric connections of the right and left hemisphere separately and the inter-hemispheric connectivity (on the right). Note that the patient’s connectivity is much lower within each hemisphere compared to the control group (white boxes), while there is no difference in the inter-hemispheric connectivity between patient and controls. Below, samples of the streamline estimates for inter-hemispheric connections are shown in one representative healthy subject. F The density of COMMIT-weighted white matter fascicles of the oculomotor network within each voxel (Tract density imaging, TDI) is projected on MNI standard brain for the patient and the average of the healthy control subjects at representative axial levels (z values given)
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References

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Supplementary concepts

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