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Comment
. 2020 Jun 1;143(6):e49.
doi: 10.1093/brain/awaa120.

A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia

Marianthi Breza  1 , Thomas Bourinaris  2 , Stephanie Efthymiou  2 , Reza Maroofian  2 , Alkyoni Athanasiou-Fragkouli  2 , John Tzartos  1   3 , Georgios Velonakis  4 , Efstratios Karavasilis  4 , Georgia Angelopoulou  5 , Dimitrios Kasselimis  5   6 , Constantin Potagas  5 , Leonidas Stefanis  1 , Georgia Karadima  1 , Georgios Koutsis  1 , Henry Houlden  2
Affiliations
Comment

A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia

Marianthi Breza et al. Brain. .
No abstract available

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Figures

Figure 1
Figure 1
Genetic and neuroimaging findings of this case: (A) Family pedigree. (B) Validation of the variant identified (c.134del, p.Pro45Leufs*22) by Sanger sequencing as homozygous in the patient and heterozygous in the mother compared to a control reference. (C–J) Brain MRI findings of this case. (C) Sagittal T2-weighted sequence showing cerebellar atrophy, midbrain and pons atrophy (hummingbird sign), and thinning of corpus callosum. (D and E) Coronal and axial T1-weighted sequence. Cerebellar atrophy is noted particularly in upper and central cerebellar vermis, however cortical atrophy, and dilated fissures (Global Cortical Atrophy, GCA scale: 2) were also present. (F and G) Axial T2-weighted and SWI (susceptibility weighted imaging) sequences showing lentiform hemosiderin depositions. (H–J) Magnetic resonance tractography using diffusion tensor imaging shows no significant alterations in the reconstructed corticospinal and cerebellar tracts superimposed on anatomical 3D T1-weighted images in axial, coronal and sagittal planes. L = left; R = right; LH = left hemisphere; RH = right hemisphere. [K(i and ii)] Patient’s ASL (arterial spin labelling) representative colour-coded images at cerebellar and lateral ventricles level showing reduced perfusion in cerebellum and in cerebral cortex. [K(iii and iv)] Control ASL representative colour coded images at cerebellar and lateral ventricles level. (L) Homozygosity mapping showing homozygous segments on chromosome 1 where the variant identified resides within a 3.1 Mb homozygous chromosomal segment (ch1: 114 522 285–117 628 869).
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