Epilepsy in Menkes disease: An electroclinical long-term study of 28 patients

Verrotti, Alberto; Cusmai, Raffaella; Darra, Francesca; Martelli, Paola; Accorsi, Patrizia; Bergamo, Silvia; Bevivino, Elsa; Coppola, Giangennaro; Freri, Elena; Grosso, Salvatore; Matricardi, Sara; Parisi, Pasquale; Sartori, Stefano; Spalice, Alberto; Specchio, Nicola; Carelli, Alessia; Zini, Daniela; Bernardina, Bernardo Dalla; Giordano, Lucio

doi:10.1016/j.eplepsyres.2014.08.006

Cited by 12 publications

(6 citation statements)

References 26 publications

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“…Hypsarrhythmia or modified hypsarrhythmia are commonly identified on EEG. [54][55][56] Brain imaging is notable for cerebral and cerebellar atrophy, increased arterial tortuosity, delayed myelination, demyelination, and abnormalities of the basal ganglia and corpus callosum. 57,58 Individuals with Menkes disease are described as having sparse, brittle, and depigmented hair, as well as characteristic facial features.…”

Section: Menkes Diseasementioning

confidence: 99%

Metabolic Disorders Presenting with Seizures in the Neonatal Period

Brimble

Ruzhnikov

2020

Semin Neurol

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Metabolic disorders represent rare but often treatable causes of seizures and epilepsy of neonatal onset. As seizures are relatively common in the neonatal period, systemic clues to a specific diagnosis may be lacking or shrouded by acute illness. An important role of the consulting pediatric neurologist is to identify neonates with a possible metabolic or otherwise genetic diagnosis. In this review, the authors describe presenting signs and symptoms, a diagnostic framework, and disorder-specific treatment options for inborn errors of metabolism that may present in the neonatal period. Specific attention is given to the neurologic aspects of each condition, including the electroclinical phenotype and findings on brain imaging. As expedited diagnosis and prompt initiation of available therapies have been demonstrated to result in improved epilepsy and developmental outcomes, this work acts as a framework to guide evaluation when an inherited metabolic disorder is suspected. In addition to informing treatment, a definitive diagnosis allows for appropriate counseling regarding prognosis, any associated screening or preventive measures, and family planning.

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Section: Menkes Diseasementioning

confidence: 99%

Metabolic Disorders Presenting with Seizures in the Neonatal Period

Brimble

Ruzhnikov

2020

Semin Neurol

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“…IS have been commonly reported in patients presenting with Menkes disease (Table ). Bahi‐Buisson et al .…”

Section: Metabolic Errors In Organic Moleculesmentioning

confidence: 99%

“…In the absence of Cu, dysfunctional Cu‐dependent enzymes involved in blood clotting, superoxide removal, myelin, and dopamine/melanin and norepinephrine synthesis (ie, blood clotting factors V and VII, superoxide dismutase and ceramide galactosyl transferase, lysyl oxidase, and dopamine beta hydroxylase) lead to variable outcomes such as anemia, vessel abnormalities, muscle weakness, and neurologic effects . Nevertheless, Cu supplementation is inefficient as a therapy in Menkes disease . Even when the disease was first described in 1962, severe neurological symptoms and seizures were observed in 5 related patients .…”

Section: Metabolic Errors In Organic Moleculesmentioning

confidence: 99%

Metabolic etiologies in West syndrome

2018

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SummaryWest syndrome (WS) is an early life epileptic encephalopathy associated with infantile spasms, interictal electroencephalography (EEG) abnormalities including high amplitude, disorganized background with multifocal epileptic spikes (hypsarrhythmia), and often neurodevelopmental impairments. Approximately 64% of the patients have structural, metabolic, genetic, or infectious etiologies and, in the rest, the etiology is unknown. Here we review the contribution of etiologies due to various metabolic disorders in the pathology of WS. These may include metabolic errors in organic molecules involved in amino acid and glucose metabolism, fatty acid oxidation, metal metabolism, pyridoxine deficiency or dependency, or acidurias in organelles such as mitochondria and lysosomes. We discuss the biochemical, clinical, and EEG features of these disorders as well as the evidence of how they may be implicated in the pathogenesis and treatment of WS. The early recognition of these etiologies in some cases may permit early interventions that may improve the course of the disease.

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“…Epilepsy and seizures in Menkes patients and mottled mutants can be multifactorial processes connected with decreased copper contents in the CNS leading to deficits in neurotransmitter function, altered energy metabolism, and excitotoxicity (Prasad et al, 2011 ; Gaier et al, 2013a ; Verrotti et al, 2014 ). It is known that some process of neural excitation and inhibition are modulated by amidated peptides (Bousquet-Moore et al, 2010 ).…”

Section: Lessons From the Mottled Micementioning

confidence: 99%

Mottled Mice and Non-Mammalian Models of Menkes Disease

Lenartowicz

Krzeptowski

Lipiński

et al. 2015

Front. Mol. Neurosci.

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Menkes disease is a multi-systemic copper metabolism disorder caused by mutations in the X-linked ATP7A gene and characterized by progressive neurodegeneration and severe connective tissue defects. The ATP7A protein is a copper (Cu)-transporting ATPase expressed in all tissues and plays a critical role in the maintenance of copper homeostasis in cells of the whole body. ATP7A participates in copper absorption in the small intestine and in copper transport to the central nervous system (CNS) across the blood-brain-barrier (BBB) and blood–cerebrospinal fluid barrier (BCSFB). Cu is essential for synaptogenesis and axonal development. In cells, ATP7A participates in the incorporation of copper into Cu-dependent enzymes during the course of its maturation in the secretory pathway. There is a high degree of homology (>80%) between the human ATP7A and murine Atp7a genes. Mice with mutations in the Atp7a gene, called mottled mutants, are well-established and excellent models of Menkes disease. Mottled mutants closely recapitulate the Menkes phenotype and are invaluable for studying Cu-metabolism. They provide useful models for exploring and testing new forms of therapy in Menkes disease. Recently, non-mammalian models of Menkes disease, Drosophila melanogaster and Danio rerio mutants were used in experiments which would be technically difficult to carry out in mammals.

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Epilepsy in Menkes disease: An electroclinical long-term study of 28 patients

Cited by 12 publications

References 26 publications

Metabolic Disorders Presenting with Seizures in the Neonatal Period

Metabolic Disorders Presenting with Seizures in the Neonatal Period

Metabolic etiologies in West syndrome

Mottled Mice and Non-Mammalian Models of Menkes Disease

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