Adult-Onset Ataxia With Neuropathy and White Matter Abnormalities Due to a Novel SAMD9L Variant

Martin Paucar; Bianca Tesi; Saeed Eshtad; Caroline Eriksson; Farouk Hashim; Daniel Nilsson; Kaveh Pourhamidi; Eva Hellström-Lindberg; Yenan T. Bryceson; Per Svenningsson

doi:10.1212/NXG.0000000000000628

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Figure Neuroimaging Findings
(A) 3D T2 weighted FLAIR sections demonstrate partially confluent periventricular hyperintensities. Hyperintensities are also seen in other white matter locations with frontal predominance in a parasagittal section (arrow). (B) Bilateral hyperintensities are shown in the dentate nuclei in a coronal section (arrows). (C) The axial section demonstrates multiple cysts within the periventricular hyperintensities (arrows). Axial T2 turbo spin echo FLAIR section displays an increased signal in the putamen and caudate nucleus bilaterally (D, arrows). Severe cerebellar atrophy is shown on this parasagittal T1 turbo spin echo section (E). T2 turbo inversion recovery magnitude section demonstrates a large posterior arachnoidal cyst with dural ectasia extending from Th1 to L2 levels (F, arrow) and an anterior lesion with possible slight loss of volume at the Th1 level (Arrow head). FLAIR = fluid-attenuated inversion recovery.

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Video 1
Examination demonstrates signs of cerebellar and sensory ataxia. Besides axial ataxia, dysmetria, vertical and horizontal nystagmus, reduced arm swing, conjunctival telangiectasias, and pes cavus deformity are also shown.Download Supplementary Video 1 via http://dx.doi.org/10.1212/000628_Video_1

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Adult-Onset Ataxia With Neuropathy and White Matter Abnormalities Due to a Novel SAMD9L Variant

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