Correction to “Type 2 Alexander Disease With a Novel Glial Fibrillary Acidic Protein Gene Mutation and Its Unique Clinical Features”
Year: 2025
Type: erratum
Abstract: Kawahara Y, Yamashita T, Ohta Y, Sato K, Nomura E, Takemoto M, Hishikawa N, Shang J, Yoshida T, Abe K. Neurol Clin Neurosci 2017;5:183–185. In the original version of this article, the pathogenic variant was incorrectly described as c.371_372insAGA. The correct description should be c.363_371dup, p.(Glu122_Arg124dup). This error was due to the presence of a surrounding duplicated sequence, which led to an incorrect initial interpretation. We confirm that this variant remains a novel variant in GFAP, and this correction does not affect the results or conclusions of the study. We apologize for this error. 1 (a) The present pedigree, showing the proband (mother, arrow), and her second daughter who showed the same glial fibrillary acidic protein (GFAP) gene mutation. Her father died of muscle atrophy when he was aged 57 years, probably due to the same disease. (b) Chest and abdominal X-ray, brain and spinal magnetic resonance imaging, and single-photon emission computed tomography study of the mother. (i, ii) Chest and abdominal X-ray, showing thoracic scoliosis. (iii–v) Axial and sagittal section of magnetic resonance imaging brain images (fluid attenuated inversion recovery), showing (iii–v) symmetrical hyperintensity of periventricular white matter and the fourth ventricle, and in the medulla oblongata, as well as (vi) atrophy in the mid-brain, medulla oblongata and upper cervical spine. (vii) Sagittal and axial and sections of magnetic resonance imaging images (T2-weighted), showing severe atrophy of the cervical and thoracic cords. (viii–xii) Single-photon emission computed tomography images of the brain showing decreased regional cerebral blood flow in the left frontal lobe, brainstem and the upper portion of the vermis (arrows). (c) The results of DNA analysis, which show a novel 9-base duplication (c.363_371dup) in the GFAP gene detected in the mother and the second daughter. (d) A schematic diagram of the present GFAP gene mutation shows an in-frame duplication of the amino acids Glu-Leu-Arg, corresponding to codons 122 to 124. They are located in the 1B domain of GFAP (upper panels). The allele-specific polymerase chain reaction (AS-PCR) pictures show the mutated bands of only the mother and the second daughter. CR, common reverse primer; MF, mutation forward primer; NF, normal forward primer.
DOI: 10.1111/ncn3.70048
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W4414485985
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