Moving from gene discovery to clinical trials in Hutchinson-Gilford progeria syndrome

Neurology

Volumn 81, Issue 5, 2013, Pages 408-409

  King, Allison A ^a   Heyer, Geoffrey L ^b  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICOAGULANT AGENT; LONAFARNIB; PROGESTERONE;

AGING; ALOPECIA; ATHEROSCLEROSIS; CARDIOVASCULAR DISEASE; CEREBROVASCULAR ACCIDENT; EDITORIAL; FAILURE TO THRIVE; HEADACHE; HUMAN; PHASE 2 CLINICAL TRIAL (TOPIC); PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROGERIA; SKIN DISEASE; TRANSIENT ISCHEMIC ATTACK;

FEMALE; HUMANS; MALE; NERVOUS SYSTEM DISEASES; PIPERIDINES; PROGERIA; PYRIDINES;

EID: 84881268900     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31829d87cd     Document Type: Editorial

References (9)

1. Hennekam RC. Hutchinson-Gilford progeria syndrome: review of the phenotype. Am J Med Genet A 2006;140: 2603-2624.
2. Hutchinson J. Congenital absence of hair and mammary glands with atrophic condition of the skin and its appendages, in a boy whose mother had been almost wholly bald from alopecia areata from the age of six. Med Chir Trans 1886;69:473-477.
3. Gilford H. On a condition of mixed premature and immature development. Med Chir Trans 1897;80:17-46.25.
4. Eriksson M, Brown WT, Gordon LB, et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 2003;423:293-298.
5. Capell BC, Erdos MR, Madigan JP, et al. Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci USA 2005;102:12879-12884.
6. Gordon LB, Kleinman ME, Miller DT, et al. Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci USA 2012;109:16666-16671.
7. Ullrich NJ, Kieran MW, Miller DT, et al. Neurologic features of Hutchinson-Gilford progeria syndrome after lonafarnib treatment. Neurology 2013;81:427-430.
8. Silvera VM, Gordon LB, Orbach DB, Campbell SE, Machan JT, Ullrich NJ. Imaging characteristics of cerebrovascular arteriopathy and stroke in Hutchinson-Gilford progeria syndrome. AJNR Am J Neuroradiol 2013;34: 1091-1097.
9. Cao K, Blair CD, Faddah DA, et al. Progerin and telomere dysfunction collaborate to trigger cellular senescence in normal human fibroblasts. J Clin Invest 2011;121:2833-2844.