Kinky hair disease: Twenty five years later

Menkes, John H.

doi:10.1016/s0387-7604(88)80074-3

Cited by 88 publications

(53 citation statements)

References 25 publications

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“…Presence of non skin manifestations in our patient such as intractable seizures , truncal hypotonia and delayed developmental milestones were similar to other reported cases 1,11,14 . Thus the typical history and clinical features of our patient were suggestive of classical menkes disease.…”

Section: Introductionsupporting

confidence: 90%

“…Children with classic Menkes disease typically appear healthy upto 3 months of age and then after 3 months, they start to demonstrate central nervous system manifestations such as intractable seizures, developmental delay and hypotonia 1,11 . Children often have cherubic appearance of face with sparse, fuzzy, twisted and light colored hair on scalp 12 .…”

Section: Introductionmentioning

confidence: 99%

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Menkes Syndrome: A Case Report

Hussain¹,

Kims²

2018

jmscr

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Section: Introductionsupporting

confidence: 90%

Section: Introductionmentioning

confidence: 99%

Menkes Syndrome: A Case Report

Hussain¹,

Kims²

2018

jmscr

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“…Copper is essential for the functioning of numerous enzymes expressed in the brain, including dopamine-b-hydroxylase, 7 cytochrome c oxidase 8 and superoxide dismutase (SOD). 9 Interestingly, it has been demonstrated that prion protein displays an SOD-like activity, which is abolished by deletion of the octapeptide-repeat region of prion protein. 10 Thus, copper homeostasis requires a fine tuning; at present, the regulation of the copper transport into and through the cell is poorly understood.…”

Section: Introductionmentioning

confidence: 99%

A human prion protein peptide (PrP59–91) protects against copper neurotoxicity

et al. 2003

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Human cellular prion protein (PrP C ) is involved in several neurodegenerative disorders; however, its normal function is unknown. We report here that a synthetic peptide corresponding to the four-octarepeat sequence of the PrP C (PrP 59-91 ) protects hippocampal neurons against copper neurotoxic effects in vivo. Using a rat bilateral intrahippocampal injection model, we found that PrP 59-91 protects against copper-induced neurotoxicity, including a recovery in spatial learning performance and a reduced neuronal cell loss and astrogliosis. Previous studies from our laboratory indicated that a tryptophan (Trp) residue plays a key role in the reduction of copper(II) to copper(I); therefore several PrP 59-91 fragments lacking histidine (His) and Trp residues were tested for their capacity to protect from copper toxicity. A PrP 59-91 peptide lacking His residue shows as much neuroprotection as the native peptide; however, PrP 59-91 without Trp residues only partially protected against copper toxicity. The neuroprotective effect not only occurs with PrP 59-91 , in fact a full neuroprotection was also observed using just one octamer of the N-terminal region of prion protein. We conclude that the N-terminal tandem octarepeat of the human PrP C protects neurons against copper toxicity by a differential contribution of the binding (His) and reducing (Trp) copper activities of PrP 59-91 . Our results are consistent with the idea that PrP C function is related to copper homeostasis.

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“…In the mild variations copper histidine treatment led to normalization of plasma copper and ceruloplasmin with marked reduction of epileptic discharges, improved muscular tone and increased motor activity. The classical Menkes disease therapy is not effective and the parenteral reposition during the first weeks of life raises the copper serum level but not that of ceruloplasmin, thus not preventing neurological deterioration 2,5,7,13 . The early diagnosis is mainly required for genetic counseling, X-Iinked inheritance with a recurrence risk of 50% for sons affected and 50% of daughters to be carriers.…”

Section: Discussionmentioning

confidence: 99%

“…The pathogenic mechanism is not entirely explained. Depigmentation of hair and skin pallor are due to tyrosinase deficiency, hypothermia is due cytochrome c oxidase deficiency and lysyl oxidase deficiency causes tortuous arteries in brain with irregular lumen and a frayed and split intimal lining 2,[5][6][7] . The clinical spectrum of Menkes disease encompasses several distinct variants.…”

Section: Palavras-chave: Doença De Menkes Neuroimagemmentioning

confidence: 99%

Menkes disease: case report of an uncommon presentation with white matter lesions

Santos

Teixeira

Vilanova

et al. 2001

Arq. Neuro-Psiquiatr.

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-Menkes disease is a rare X-linked disorder related to a defect in the copper metabolism. According to the current literature, the most frequent neuroimaging findings are cortical atrophy, chronic subdural effusion or hygroma, and vascular abnormalities. White matter lesions may be present before other features of the disease and may evolve into atrophy. We hereby report a case of Menkes disease with typical history and progression, and an early phase imaging study with important white matter abnormalities, which could have lead to diagnostic difficulties.KEY WORDS: Menkes disease, neuroimaging. Doença de Menkes: relato de caso com comprometimento da substância branca cerebral RESUMO -A doença de Menkes é patologia ligada ao X relacionada a defeito no metabolismo de cobre. De acordo com literatura atual, os achados mais frequentes em exames de neuroimagem são atrofia cortical, efusão de subdural crônica ou higroma, e alterações vasculares. Lesões em substância branca podem estar presentes antes das alterações clinicas da doença e podem evoluir para atrofia. Apresentamos relato de caso da doença de Menkes com história e evolução típica, descrevendo os achados de neuroimagem na fase inicial da doença que revelaram sinais importantes de comprometimento da substância branca que poderiam conduzir a dúvidas diagnósticas. PALAVRAS-CHAVE: doença de Menkes, neuroimagem.

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Kinky hair disease: Twenty five years later

Cited by 88 publications

References 25 publications

Menkes Syndrome: A Case Report

Menkes Syndrome: A Case Report

A human prion protein peptide (PrP59–91) protects against copper neurotoxicity

Menkes disease: case report of an uncommon presentation with white matter lesions

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