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. 2017 Feb 24;3(2):e138.
doi: 10.1212/NXG.0000000000000138. eCollection 2017 Apr.

Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease

Yasuo Harigaya  1 , Takashi Matsukawa  1 , Yukio Fujita  1 , Kazuyuki Mizushima  1 , Hiroyuki Ishiura  1 , Jun Mitsui  1 , Shinichi Morishita  1 , Mikio Shoji  1 , Yoshio Ikeda  1 , Shoji Tsuji  1
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Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease

Yasuo Harigaya et al. Neurol Genet. .
No abstract available

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Figures

Figure
Figure. Brain MRI, novel GBE1 gene mutation, and polyglucosan bodies in sural nerve
(A) Brain MRIs of patient 1 (A.a, A.b) and patient 2 (A.c, A.d) showed atrophy of the medulla and the spinal cord (A.a and A.c, sagittal T2-weighted images), and hyperintense white matter lesions in the periventricular regions, posterior portions of the internal capsule, pyramidal tracts, and medial lemniscus of the pons and medulla (A.b and A.d, respectively, axial fluid-attenuated inversion recovery images). (B) Sanger sequencing confirmed that the A to G transition at position 929 (c.929A>G), with replacement of tyrosine with cysteine at codon 310 (p.Tyr310Cys), was in a homozygous state in patients 1 and 2, and a heterozygous state in their sister. (C) The affected amino acid is highlighted by the yellow rectangle. This tyrosine at position 310 is highly conserved among mammals but not in other species. (D) Axial sections of the sural nerve biopsy specimen of patient 1 showed several round periodic acid–Schiff (PAS)-positive PBs (D.a and D.b, scale bar = 25 μm). Axial epoxy section showed a large intra-axonal PB and loss of myelinated fibers (D.c, toluidine blue, scale bar = 25 μm). PB, polyglucosan body.
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