Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum

    January 2018 in “ Neurodegenerative Diseases ”
    Yu‐Sen Qiu, Ling Xin, Yuyao Wang, Yanyan Yu, Keji Zou, Qian Zhou, Yunqing Chen, Shuyun Chen, Min Zhu, Daojun Hong
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    TLDR Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
    In a study from January 1, 2018, researchers discovered a novel nonsense mutation in the ABCD1 gene associated with adult-onset adrenomyeloneuropathy (AMN) in a family with an X-linked inheritance pattern. The study involved 10 family members, focusing on three brothers who exhibited typical AMN symptoms, including spastic paraparesis, peripheral sensorimotor neuropathy, and alopecia, as well as abnormal plasma long-chain fatty acid levels. Notably, cerebral MRI scans of the patients revealed hypoplasia and agenesis of the corpus callosum, which had not been previously associated with AMN. The identified mutation (c.231G>A, resulting in p.W77X) was confirmed by Sanger sequencing. The study concluded that the ABCD1 mutation is linked to the observed myelopathy, neuropathy, and alopecia, and that exome sequencing is a valuable diagnostic tool for complex neurodegenerative diseases with atypical symptoms. The research was funded by the National Natural Science Foundation of China under grant numbers 81260194 and 81460199.
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