Rett syndrome from bench to bedside: recent advances

Ehinger, Yann; Matagne, Valérie; Villard, Laurent; Roux, Jean‐Christophe

doi:10.12688/f1000research.14056.1

Cited by 25 publications

(20 citation statements)

References 89 publications

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“…[181][182][183] With the advent of next generation sequencing and enhanced clinical phenotyping, it is likely that the genetic epilepsy-dyskinesia spectrum will further expand. These disorders are often under-recognized, mainly because of their rarity and heterogeneity, and, therefore, delays in diagnosis and appropriate management are common.…”

Section: Discussionmentioning

confidence: 99%

The expanding spectrum of movement disorders in genetic epilepsies

Papandreou

Danti

Spaull

et al. 2019

Develop Med Child Neuro

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An ever‐increasing number of neurogenetic conditions presenting with both epilepsy and atypical movements are now recognized. These disorders within the ‘genetic epilepsy‐dyskinesia’ spectrum are clinically and genetically heterogeneous. Increased clinical awareness is therefore necessary for a rational diagnostic approach. Furthermore, careful interpretation of genetic results is key to establishing the correct diagnosis and initiating disease‐specific management strategies in a timely fashion. In this review we describe the spectrum of movement disorders associated with genetically determined epilepsies. We also propose diagnostic strategies and putative pathogenic mechanisms causing these complex syndromes associated with both seizures and atypical motor control. What this paper adds Implicated genes encode proteins with very diverse functions. Pathophysiological mechanisms by which epilepsy and movement disorder phenotypes manifest are often not clear. Early diagnosis of treatable disorders is essential and next generation sequencing may be required.

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Section: Discussionmentioning

confidence: 99%

The expanding spectrum of movement disorders in genetic epilepsies

Papandreou

Danti

Spaull

et al. 2019

Develop Med Child Neuro

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“…Due to the broad and general understanding of the isoprostanoids, they are repeatedly neglected for its specificity and often considered nonspecific indicators of oxidative damage. Nevertheless, F 2 -IsoP formation appeared to be modulated by specific mechanisms in the neurological diseases arising from methyl-CpG binding protein 2 ( MECP2 ) gene expression, the so-called MECP2-pathies [ 56 ].…”

Section: Mechanisms Underlying Different Brain Diseases: Similar Bmentioning

confidence: 99%

Isoprostanoids in Clinical and Experimental Neurological Disease Models

et al. 2018

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Isoprostanoids are a large family of compounds derived from non-enzymatic oxidation of polyunsaturated fatty acids (PUFAs). Unlike other oxidative stress biomarkers, they provide unique information on the precursor of the targeted PUFA. Although they were discovered about a quarter of century ago, the knowledge on the role of key isoprostanoids in the pathogenesis of experimental and human disease models remains limited. This is mainly due to the limited availability of highly purified molecules to be used as a reference standard in the identification of biological samples. The accurate knowledge on their biological relevance is the critical step that could be translated from some mere technical/industrial advances into a reliable biological disease marker which is helpful in deciphering the oxidative stress puzzle related to neurological disorders. Recent research indicates the value of isoprostanoids in predicting the clinical presentation and evolution of the neurological diseases. This review focuses on the relevance of isoprostanoids as mediators and potential biomarkers in neurological diseases, a heterogeneous family ranging from rare brain diseases to major health conditions that could have worldwide socioeconomic impact in the health sector. The current challenge is to identify the preferential biochemical pathways that actually follow the oxidative reactions in the neurological diseases and the consequence of the specific isoprostanes in the underlying pathogenic mechanisms.

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“…Rett syndrome (RTT) is a rare, X-linked neurodevelopmental disorder that affects 1 in 10,000 females born worldwide. Despite the rarity of RTT, it is considered a leading cause of intellectual disability in females, accounting for an estimated 10% of all cases [1,2]. Patients with RTT demonstrate typical development from birth until 6 to 18 months of age, when motor, verbal, and cognitive skills begin to stagnate and regress, resulting in children exhibiting a range of symptoms typically including autistic features, intellectual impairment, motor deterioration, and autonomic abnormalities.…”

Section: Introductionmentioning

confidence: 99%

Glial Dysfunction in MeCP2 Deficiency Models: Implications for Rett Syndrome

Kahanovitch

Patterson

Hernandez

et al. 2019

IJMS

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Rett syndrome (RTT) is a rare, X-linked neurodevelopmental disorder typically affecting females, resulting in a range of symptoms including autistic features, intellectual impairment, motor deterioration, and autonomic abnormalities. RTT is primarily caused by the genetic mutation of the Mecp2 gene. Initially considered a neuronal disease, recent research shows that glial dysfunction contributes to the RTT disease phenotype. In the following manuscript, we review the evidence regarding glial dysfunction and its effects on disease etiology.

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Rett syndrome from bench to bedside: recent advances

Cited by 25 publications

References 89 publications

The expanding spectrum of movement disorders in genetic epilepsies

The expanding spectrum of movement disorders in genetic epilepsies

Isoprostanoids in Clinical and Experimental Neurological Disease Models

Glial Dysfunction in MeCP2 Deficiency Models: Implications for Rett Syndrome

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