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, Shoichi Ohga

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish
Pages (from-to)690-693
Number of pages4
JournalBrain and Development
Volume35
Issue number7
DOIs
Publication statusPublished - Aug 1 2013

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Progeria
Carotid Stenosis
Lamin Type A
Telomere
Blood Vessels
Premature Aging
Ankle Brachial Index
Mutation
Arteriosclerosis
Subcutaneous Fat
Alopecia
Nuclear Envelope
Cerebral Infarction
Vascular Smooth Muscle
Smooth Muscle Myocytes
Accidents
Early Diagnosis
Cause of Death
Ultrasonography
Atherosclerosis

All Science Journal Classification (ASJC) codes

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

Cite this

Narazaki, R., Makimura, M., Sanefuji, M., Fukamachi, S., Akiyoshi, H., So, H., ... 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

Bilateral stenosis of carotid siphon in Hutchinson-Gilford progeria syndrome. / Narazaki, Ryo; Makimura, Mika; Sanefuji, Masafumi; Fukamachi, Shigeru; Akiyoshi, Hidetaka; So, Hidenori; Yamamura, Kenichiro; Doisaki, Sayoko; Kojima, Seiji; Ihara, Kenji; Hara, Toshiro; Ohga, Shoichi.

In: Brain and Development, Vol. 35, No. 7, 01.08.2013, p. 690-693.

Research output: Contribution to journalArticle

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, vol. 35, no. 7, pp. 690-693. https://doi.org/10.1016/j.braindev.2012.10.008
Narazaki R, Makimura M, Sanefuji M, Fukamachi S, Akiyoshi H, So H et al. Bilateral stenosis of carotid siphon in Hutchinson-Gilford progeria syndrome. Brain and Development. 2013 Aug 1;35(7):690-693. https://doi.org/10.1016/j.braindev.2012.10.008
Narazaki, Ryo ; Makimura, Mika ; Sanefuji, Masafumi ; Fukamachi, Shigeru ; Akiyoshi, Hidetaka ; So, Hidenori ; Yamamura, Kenichiro ; Doisaki, Sayoko ; Kojima, Seiji ; Ihara, Kenji ; Hara, Toshiro ; Ohga, Shoichi. / Bilateral stenosis of carotid siphon in Hutchinson-Gilford progeria syndrome. In: Brain and Development. 2013 ; Vol. 35, No. 7. pp. 690-693.
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