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. 2020 Jul 12;267(12):3643–3649. doi: 10.1007/s00415-020-10059-3

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© The Author(s) 2020

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 1 — a P1 aged 40 years (left) and P2 aged 38 years. Both patients have characteristic facial features low-set ears and, and presented with distal upper and lower limb wasting and equinovarus deformity due to peripheral neuropathy and spastic paraparesis. b Axial T2 FLAIR MR images of P1 (top panels) and P2 (bottom panels). MRI brain in P1 aged 41 years showed mild global atrophy. MRI brain in P2 aged 34 demonstrated no significant abnormality apart from mild increased T2 signal in the peritrigonal white matter bilaterally