Menkes' disease: neurophysiological aspects.

Friedman, E; Harden, A; Koivikko, Matti; Pampiglione, G.

doi:10.1136/jnnp.41.6.505

Cited by 31 publications

(26 citation statements)

References 23 publications

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“…18 EEG in these patients is usually moderately to severely abnormal, and reflects high rates of status epilepticus and infantile spasms. 69,70 Indeed, three large surveys together revealed the presence of clinical seizures and EEG abnormalities in 27 of 29 (93%) symptomatic patients with Menkes disease who were diagnosed at ≥2 months of age. 69–71 …”

Section: Atp7a-related Diseasesmentioning

confidence: 99%

ATP7A-related copper transport diseases—emerging concepts and future trends

2011

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This Review summarizes recent advances in understanding copper-transporting ATPase 1 (ATP7A), and examines the neurological phenotypes associated with dysfunction of this protein. Involvement of ATP7A in axonal outgrowth, synapse integrity and neuronal activation underscores the fundamental importance of copper metabolism to neurological function. Defects in ATP7A cause Menkes disease, an infantile-onset, lethal condition. Neonatal diagnosis and early treatment with copper injections enhance survival in patients with this disease, and can normalize clinical outcomes if mutant ATP7A molecules retain small amounts of residual activity. Gene replacement rescues a mouse model of Menkes disease, suggesting a potential therapeutic approach for patients with complete loss-of-function ATP7A mutations. Remarkably, a newly discovered ATP7A disorder—isolated distal motor neuropathy—has none of the characteristic clinical or biochemical abnormalities of Menkes disease or its milder allelic variant occipital horn syndrome (OHS), instead resembling Charcot–Marie–Tooth disease type 2. These findings indicate that ATP7A has a crucial but previously unappreciated role in motor neuron maintenance, and that the mechanism underlying ATP7A-related distal motor neuropathy is distinct from Menkes disease and OHS pathophysiology. Collectively, these insights refine our knowledge of the neurology of ATP7A-related copper transport diseases and pave the way for further progress in understanding ATP7A function.

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Section: Atp7a-related Diseasesmentioning

confidence: 99%

ATP7A-related copper transport diseases—emerging concepts and future trends

2011

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“…Electroencephalography (EEG) abnormalities may antedate the appearance of seizures, as early as 2 months of life. The three stages are as follows: 1) an early stage at the age of 3 months with focal seizures progressing to status epilepticus, 2) an intermediate stage (6–11 months) where epileptic spasms, including West syndrome accompanied by EEG changes of hypsarrhythmia, develop; myoclonic seizures as a presenting symptom have also been reported, and finally, 3) a third late stage that is characterized by the emergence of multifocal seizures, tonic spasms, and myoclonus encountered in infants with a mean age of ~20–25 months 78,80,81. Typical interictal and ictal EEG findings are described in an earlier article78,81 (Figure 3).…”

Section: Classical Form Of MDmentioning

confidence: 99%

Menkes disease: what a multidisciplinary approach can do

Ojha¹,

Prasad²

2016

JMDH

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Disorders of copper homeostasis are currently recognized across the life span. Their recognition and links to human disease have spanned several decades, beginning with the recognition of a degenerative disorder in the offspring of sheep grazing in copper-deficient pastures, through to the description of infants suffering from a progressive neurodegenerative disorder characterized by epileptic seizures, developmental regression, failure to thrive, and an unusual hair quality (giving the condition its distinctive label of “kinky hair disease”). In this review, we trace the historical background and describe the biochemistry and physiology of copper metabolism and transport, inheritance patterns, molecular genetics, and genotype–phenotype correlations based on current understanding of the disorder. It is clear from the clinical presentations and variants that disorders of copper homeostasis include phenotypes ranging from mild occipital horn syndrome to intermediate and severe forms of classical Menkes disease. The symptoms involve multiple organ systems such as brain, lung, gastrointestinal tract, urinary tract, connective tissue, and skin. A multisystem disorder needs a multidisciplinary approach to care, as treatment interventions permit longer survival for some individuals. Animal models have been developed to help screen treatment options and provide a better understanding of these disorders in the laboratory. Finally, we propose a multidisciplinary approach to promote continued research (both basic and clinical) to improve survival, quality of life, and care for these conditions.

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“…Electroencephalograms are usually moderately to severely abnormal including high rates of status epilepticus and infantile spasms (Friedman et al, 1978; Bahi-Buisson et al, 2006). Normal tracings may be recorded in some classically affected individuals, however (White et al, 1993).…”

Section: Wilson Diseasementioning

confidence: 99%

Inborn errors of copper metabolism

Kaler

2013

Handbook of Clinical Neurology

103

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SUMMARY Wilson disease, Menkes disease, occipital horn syndrome, and X-linked distal hereditary motor neuropathy are genetic disorders of copper metabolism that span a broad spectrum of neurological dysfunction (Table 180.1). The occurrence of these disorders indicates the fundamental importance of ATP7A and ATP7B. Further research to clarify the mechanisms suggested by these clinical and biochemical phenotypes may yield insight about the roles of ATP7A and ATP7B in neuronal cells, and lead to improved treatments.

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Menkes' disease: neurophysiological aspects.

Cited by 31 publications

References 23 publications

ATP7A-related copper transport diseases—emerging concepts and future trends

ATP7A-related copper transport diseases—emerging concepts and future trends

Menkes disease: what a multidisciplinary approach can do

Inborn errors of copper metabolism

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