The rate of growth in progeria

Cooke, Jean V.

doi:10.1016/s0022-3476(53)80106-x

Cited by 27 publications

(6 citation statements)

References 11 publications

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“…Between 2 and 3 years, most children are found to be bald, apart from fine, downy hair, which has the tendency to curl (Fig. 5B) [Schippers, 1916; Cooke, 1953]. Rarely, the hair is still present at the age of 12–15 years [Ishii, 1976].…”

Section: Hairmentioning

confidence: 99%

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Hutchinson–Gilford progeria syndrome: Review of the phenotype

Hennekam

2006

American J of Med Genetics Pt A

484

490

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Hutchinson–Gilford progeria syndrome (HGPS) is a rare but well known entity characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons. Cardiovascular compromise leads to early demise. Cognitive development is normal. Data on 10 of our own cases and 132 cases from literature are presented. The incidence in the last century in the Netherlands was 1:4,000,000. Sex ratio was 1.2:1. Main first symptoms were failure to thrive (55%), hair loss (40%), skin problems (28%), and lipodystrophy (20%). Mean age at diagnosis was 2.9 years. Growth in weight was more disturbed than growth in height, and growth delay started already prenatally. Mean height > 13 years was 109.0 cm, mean weight was 14.5 kg. Osteolysis was wide‐spread but not expressed, except in the viscerocranium, and remained limited to membranous formed bone. Lipodystrophy is generalized, only intra‐abdominal fat depositions remain present. Cardiovascular problems are extremely variable, both in age of onset and nature. Stroke and coronary dysfunctioning are most frequent. Pathologic findings in coronaries and aorta resemble sometimes the findings in elderly persons, but can also be much more limited. Loss of smooth muscle cells seems the most important finding. Mean age of demise was 12.6 years. Patients can be subdivided in patients with classical HGPS, which follows an autosomal dominant pattern of inheritance, (almost) all cases representing spontaneous mutations, and in non‐classical progeria, in whom growth can be less retarded, scalp hair remains present for a longer time, lipodystrophy is more slowly progressive, osteolysis is more expressed except in the face, and survival well into adulthood is not uncommon. Pattern of inheritance of non‐classical progeria is most probably autosomal recessive. The cause of HGPS is an abnormally formed Lamin A, either directly by a mutated LMNA gene, or through abnormal posttranslational processing (ZMPSTE24 gene mutations). Of 34 LMNA mutations found in progeria patients, there were 26 classical p.G608G mutations (76%). Pathogenesis is most likely to follow several different pathways. Potential therapeutic strategies are developed along these lines and include RNA interference techniques and inhibition of the dominant‐negative influence of abnormally formed Lamin A on polymerization with normally formed Lamin A. © 2006 Wiley‐Liss, Inc.

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Section: Hairmentioning

confidence: 99%

“…In the end phase, dyspnoea can be extreme [Manschot, 1940; Doub, 1953; Dyck et al, 1987]. In some patients, the coronary dysfunction occurs acutely, with rapid demise over weeks or even hours [Cooke, 1953; Doub, 1953; Atkins, 1954]. Coronary artery bypass surgery has been tried [Dyck et al, 1987].…”

Section: Cardiovascular Systemmentioning

confidence: 99%

Hutchinson–Gilford progeria syndrome: Review of the phenotype

Hennekam

2006

American J of Med Genetics Pt A

484

490

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“…4 and 5). Progeria, or the Hutchinson‐Gilford syndrome, is characterized by a growth abnormality, and an appearance of accelerated aging (22–36). One current view (24, 25, 37) is that progeria is the result of an inborn genetic error.…”

Section: Genetic Control Of Life Spanmentioning

confidence: 99%

“… A 13‐year‐old girl with progeria, shortly before her cardiac death (23). (Courtesy of Washington University Department of Pediatrics, and the C. V. Mosby Company, St.…”

Section: Genetic Control Of Life Spanmentioning

confidence: 99%

The Biology of Aging

Reichel

1966

J American Geriatrics Society

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Various biological aspects of the aging process are reviewed. Aging has multiple causes. First, there is the initial genetic variability in the organism. Second, there is the destructive effect of the environment. Third, there is an accumulation in the somatic cells of changes, mutations or local chemical damage. These changes incapacitate or kill individual cells, and eventually cause a decline in physiological capacity.

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“…Thomson and Forfar (1950) reviewed the literature and found 18 typical and an equal number of atypical cases which did not show the complete picture. They described a case of their own and since then five further cases have been reported (Rossi, 1951;Cooke. 1953;Doub, 1953;Atkins, 1954;Plunkett, Sawtelle and Hamblen, 1954).…”

mentioning

confidence: 99%