Ryo Narazaki, Mika Makimura, Masafumi Sanefuji, Shigeru Fukamachi, Hidetaka Akiyoshi, Hidenori So, Kenichiro Yamamura, Sayoko Doisaki, Seiji Kojima, Kenji Ihara, Toshiro Hara, Shouichi Ohga
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...
August 2013: Brain & Development