Menkes Kinky-Hair Syndrome (Trichopoliodystrophy)

Singh, Sarjit; Bresnan, Michael J.

doi:10.1001/archpedi.1973.04160040072015

Cited by 54 publications

(7 citation statements)

References 16 publications

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“…Contrary to our findings, some ERG abnormalities (usually affecting the "b" wave) have been mentioned in three single case reports of Menkes' disease, by Billings andDegnan (1971), Singh andBresnan (1973) and Levy et al (1974), but their documentation is not very clear. The ERGs of our patients have been recorded under photopic conditions, but it is unlikely that with such well-preserved ERGs any of our patients would have any gross loss of function of the outer retinal receptor elements (rods, cones, and possibly bipolar cells).…”

Section: Discussioncontrasting

confidence: 99%

“…The EEG findings in the eight patients of the present series are in keeping with the few limited reports already published, such as the single case of Singh and Bresnan (1973) as well as Menkes et al (1962) who described the EEG features as "early multifocal abnormalities which later became diffuse." In our patients the EEG abnormalities were already severe when convulsions began at the age of 2-5 months, and this may be important in view of the apparently normal postnatal period in these children.…”

Section: Discussionsupporting

confidence: 91%

“…An abnormal VEP was documented in five out of six patients examined by us, and this would suggest a gross loss of function of the visual pathways, visual cortex, or both which was already established soon after the onset of clinical symptomatology. The few other VEP studies in single cases (Billings and Degnan, 1971;French et al, 1972;Singh and Bresnan, 1973;Levy et al, 1974) have mostly reported an abnormally low amplitude response. It was somewhat surprising that case 8 in our series never showed any VEP abnormalities, but this child was less severely affected clinically and had longer survival than any of the other patients.…”

Section: Discussionmentioning

confidence: 95%

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Menkes' disease: neurophysiological aspects.

Friedman¹,

Harden²,

Koivikko³

et al. 1978

Journal of Neurology, Neurosurgery & Psychiatry

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Section: Discussioncontrasting

confidence: 99%

Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 95%

See 1 more Smart Citation

Menkes' disease: neurophysiological aspects.

Friedman¹,

Harden²,

Koivikko³

et al. 1978

Journal of Neurology, Neurosurgery & Psychiatry

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“…These symptoms have been attributed to copper deficiency (1), since copper is known to have a role in the formation of myelin, keratin, melanin, elastin, collagen, and ascorbic acid metabolism as well as in electron transport (2). We culture solutions was monitored, and while some variations were observed for these solutions, no effect upon copper concentration of the fibroblasts was detected.…”

mentioning

confidence: 99%

Menkes disease: a biochemical abnormality in cultured human fibroblasts.

Goka¹,

Stevenson²,

Hefferan³

et al. 1976

Proc. Natl. Acad. Sci. U.S.A.

161

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“…36,37 Interestingly, tortuosity and aneurysm were not reported in aorta. For example, a normal abdominal aorta, but marked tortuous visceral and renal vessels were reported in a 5–6-month-old patient, 25 hinting that the defects in the abdominal aorta were grossly unremarkable during the perinatal period. However, histologic sequestration and degradation of aortic elastin have been reported.…”

Section: Introductionmentioning

confidence: 99%

Bone Marrow from Blotchy Mice Is Dispensable to Regulate Blood Copper and Aortic Pathologies but Required for Inflammatory Mediator Production in LDLR-Deficient Mice during Chronic Angiotensin II Infusion

Harris

Liang

Chen

et al. 2015

Annals of Vascular Surgery

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Background The blotchy mouse caused by mutations of ATP7A develops low blood copper and aortic aneurysm and rupture. Although the aortic pathologies are believed primarily due to congenital copper deficiencies in connective tissue, perinatal copper supplementation does not produce significant therapeutic effects, hinting additional mechanisms in the symptom development, such as an independent effect of the ATP7A mutations during adulthood. Methods We investigated if bone marrow from blotchy mice contributes to these symptoms. For these experiments, bone marrow from blotchy mice (blotchy marrow group) and healthy littermate controls (control marrow group) was used to reconstitute recipient mice (irradiated male low-density lipoprotein receptor −/− mice), which were then infused with angiotensin II (1,000 ng/kg/min) for 4 weeks. Results By using Manne–Whitney Utest, our results showed that there was no significant difference in the copper concentrations in plasma and hematopoietic cells between these 2 groups. And plasma level of triglycerides was significantly reduced in blotchy marrow group compared with that in control marrow group (P<0.05), whereas there were no significant differences in cholesterol and phospholipids between these 2 groups. Furthermore, a bead-based multiplex immunoassay showed that macrophage inflammatory protein (MIP)-1β, monocyte chemotactic protein (MCP)-1, MCP-3, MCP-5, tissue inhibitor of metalloproteinases (TIMP)-1, and vascular endothelial growth factor (VEGF)-A production was significantly reduced in the plasma of blotchy marrow group compared with that in control marrow group (P<0.05). More important, although angiotensin II infusion increased maximal external aortic diameters in thoracic and abdominal segments, there was no significant difference in the aortic diameters between these 2 groups. Furthermore, aortic ruptures, including transmural breaks of the elastic laminae in the abdominal segment and lethal rupture in the thoracic segment, were observed in blotchy marrow group but not in control marrow group; however, there was no significant difference in the incidence of aortic ruptures between these 2 groups (P = 0.10; Fisher's exact test). Conclusions Overall, our study indicated that the effect of bone marrow from blotchy mice during adulthood is dispensable in the regulation of blood copper, plasma cholesterol and phospholipids levels, and aortic pathologies, but contributes to a reduction of MIP-1β, MCP-1, MCP-3, MCP-5, TIMP-1, and VEGF-A production and triglycerides concentration in plasma. Our study also hints that bone marrow transplantation cannot serve as an independent treatment option.

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Menkes Kinky-Hair Syndrome (Trichopoliodystrophy)

Cited by 54 publications

References 16 publications

Menkes' disease: neurophysiological aspects.

Menkes' disease: neurophysiological aspects.

Menkes disease: a biochemical abnormality in cultured human fibroblasts.

Bone Marrow from Blotchy Mice Is Dispensable to Regulate Blood Copper and Aortic Pathologies but Required for Inflammatory Mediator Production in LDLR-Deficient Mice during Chronic Angiotensin II Infusion

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