期刊
INTERNATIONAL JOURNAL OF NEUROSCIENCE
卷 132, 期 12, 页码 1182-1186出版社
TAYLOR & FRANCIS LTD
DOI: 10.1080/00207454.2020.1869000
关键词
Primary familial brain calcification; MYORG gene; cerebral infarction; neurovascular unit
资金
- science and technology project of education department of Jiangxi Province [170009, 180045]
- key research and development plan of science and technology department of Jiangxi province [20202BBGL73104]
This study reported a young patient with primary familial brain calcification (PFBC) carrying a novel homozygous mutation in the MYORG gene and presenting with cerebral infarction involving the posterior limb of the right internal capsule.
Primary familial brain calcification (PFBC) is a rare inherited disorder characterized by bilateral calcification mainly in the basal ganglia, thalamus, and cerebellar nuclei. Recently, the MYORG gene, as the first autosomal recessive causal gene for PFBC, was reported in six unrelated Chinese families. Patients with PFBC rarely present with cerebrovascular disease. Here, we report a young patient with PFBC who carried a novel homozygous mutation in the MYORG gene presenting with cerebral infarction involving the posterior limb of the right internal capsule. Brain computed tomography (CT) demonstrated symmetric calcifications in the basal ganglia, thalamus, midbrain, pons, cerebellum and frontal lobes. We found one homozygous mutation in the MYORG gene (NM_020702.3 exon2: c.830delC; p.P277Qfs*3) in this patient by Sanger sequencing. Currently, the association of PFBC and cerebral infarction, as well as the physiological role of the MYORG gene, is not clear and worth special attention and further investigation.
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