Bilateral stenosis of carotid siphon in Hutchinson-Gilford progeria syndrome

Ryo Narazaki, Mika Makimura, Masafumi Sanefuji, Shigeru Fukamachi, Hidetaka Akiyoshi, Hidenori So, Kenichiro Yamamura, Sayoko Doisaki, Seiji Kojima, Kenji Ihara, Toshiro Hara, Shouichi Ohga

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Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disease, caused by a de novo mutation of lamin-A gene, LMNA G608G. Accumulation of abnormal lamin-A (progerin) compromises nuclear membrane integrity and results in the accelerated senescence. Affected patients show a typical feature of birdlike face, alopecia, sclerotic skin, loss of subcutaneous fat, and short stature with advancing years. Neonatal scleroderma is the first presentation, although early diagnosis is challenging. The leading cause of death is cardio-/cerebro-vascular accidents associated with atherosclerosis. However, not all findings may recapitulate the aging process. We herein report a 9-year-old Japanese male with HGPS who developed cerebral infarction. The genetic study of peripheral blood-derived DNA determined a heterozygous c.1824C>T mutation, p.G608G. Telomere length of lymphocytes was normal. Bilateral stenosis of carotid siphons was prominent, while systemic arteriosclerosis was unremarkable assessed by the ankle-brachial index, carotid ultrasound imaging and funduscopic study. HGPS patients have marked loss and functional defects in vascular smooth muscle cells, leading to the vulnerability to circulatory stress. Symmetrical stenosis of siphons might occur as a distinctive cerebral vasculopathy of HGPS, rather than simple vascular senescence. Peripheral blood study on LMNA G608G and telomere length could screen progerias in infancy for early therapeutic intervention.

元の言語英語
ページ(範囲)690-693
ページ数4
ジャーナルBrain and Development
35
発行部数7
DOI
出版物ステータス出版済み - 8 1 2013

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

フィンガープリント Bilateral stenosis of carotid siphon in Hutchinson-Gilford progeria syndrome' の研究トピックを掘り下げます。これらはともに一意のフィンガープリントを構成します。

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    Narazaki, R., Makimura, M., Sanefuji, M., Fukamachi, S., Akiyoshi, H., So, H., Yamamura, K., Doisaki, S., Kojima, S., Ihara, K., Hara, T., & Ohga, S. (2013). Bilateral stenosis of carotid siphon in Hutchinson-Gilford progeria syndrome. Brain and Development, 35(7), 690-693. https://doi.org/10.1016/j.braindev.2012.10.008