Neurochemical aspects of the Rett syndrome

Riederer, Peter; Brücke, Thomas; Sofie, Emin; Kienzl, E.; Schnecker, Kurt; Schay, Veronika; Kruzik, P.; Kilian, W.; Rett, A

doi:10.1016/s0387-7604(85)80044-9

Cited by 61 publications

(29 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Reduced monoaminergic neurotransmission has long been postulated to contribute to the etiology of RTT. Initial studies reported that levels of NE, serotonin, and their metabolites or synthesizing enzymes are decreased in postmortem brain tissues from RTT patients (Riederer et al, 1985; Brücke et al, 1987; Lekman et al, 1989; Saito et al, 2001). Postnatal declines in NE, dopamine, and serotonin have also been noted in the brainstem of null mice (Ide et al, 2005) and have been associated with reduced numbers of TH-expressing neurons in the A1/C1 and A2/C2 cell groups (Viemari et al, 2005; Roux et al, 2007).…”

Section: Discussionmentioning

confidence: 99%

Pathophysiology of Locus Ceruleus Neurons in a Mouse Model of Rett Syndrome

Taneja¹,

Ogier²,

Brooks-Harris³

et al. 2009

J. Neurosci.

114

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 99%

Pathophysiology of Locus Ceruleus Neurons in a Mouse Model of Rett Syndrome

Taneja¹,

Ogier²,

Brooks-Harris³

et al. 2009

J. Neurosci.

114

View full text Add to dashboard Cite

show abstract

“…However, subsequent investigations showed that the urea cycle is normal in this disorder (Burd et al 1990). Analysis performed on blood, plasma and serum samples from RTT patients revealed either inconsistent abnormalities or no abnormalities (Riederer et al 1985;Plioplys et al 1994;Fiumara et al 1999). Early reports did not reveal biochemical abnormalities in urine from Rett syndrome patients either (Riederer et al 1985;Zoghbi et al 1985), although a more recent study of 53 RTT females revealed hyperpeptiduria in 81% of the cases (Solaas et al 2002).…”

Section: Abnormal Levels Of Biogenic Amine Metabolites In the Csf Of mentioning

confidence: 91%

“…Analysis performed on blood, plasma and serum samples from RTT patients revealed either inconsistent abnormalities or no abnormalities (Riederer et al 1985;Plioplys et al 1994;Fiumara et al 1999). Early reports did not reveal biochemical abnormalities in urine from Rett syndrome patients either (Riederer et al 1985;Zoghbi et al 1985), although a more recent study of 53 RTT females revealed hyperpeptiduria in 81% of the cases (Solaas et al 2002). Normal results were obtained when urine samples were used to quantify monoamine metabolite samples in 36 RTT patients (Lekman et al 1990) and biopterins, which are essential for the biosynthesis of monoamines, in 19 RTT patients (Sahota et al 1985;Boltshauser et al 1986).…”

Section: Abnormal Levels Of Biogenic Amine Metabolites In the Csf Of mentioning

confidence: 99%

Biogenic Amines in Rett Syndrome: The Usual Suspects

Roux

Villard

2009

Behav Genet

View full text Add to dashboard Cite

Rett syndrome (RTT) is a severe postnatal neurological disorder caused by mutations in the methyl-CpG binding protein 2 (MECP2) gene. In affected children, most biological parameters, including brain structure, are normal (although acquired microcephaly is usually present). However, in recent years, a deficit in bioaminergic metabolism has been identified at the cellular and molecular levels, in more than 200 patients. Recently available transgenic mouse strains with a defective Mecp2 gene also show abnormalities, strongly suggesting that there is a direct link between the function of the MECP2 protein and the metabolism of biogenic amines. Biogenic amines appear to have an important role in the pathophysiology of Rett syndrome, for several reasons. Firstly, biogenic amines modulate a large number of autonomic and cognitive functions. Secondly, many of these functions are affected in RTT patients. Thirdly, biogenic amines are the only neurotransmitters that have repeatedly been found to be altered in RTT patients. Importantly, pharmacological interventions can be envisaged to try to counteract the deficits observed. Here, we review the available human and mouse data and present how they have been and could be used in the development of pharmacological treatments for children affected by the syndrome. Given our current knowledge and the tools available, modulating biogenic amine metabolism may prove to be the most promising strategy for improving the life quality of Rett syndrome patients in the short term.

show abstract

“…In their initial description of RTT, A. Rett and colleagues reported abnormally low values of noradrenaline (NA) and serotonin (5-HT) in the brain of single RTT patients and suggested that a defect in central monoaminergic systems could be an underlying cause of the disease (Riederer et al, 1985, 1986; Brücke et al, 1987). The characteristic symptoms and the polysomnography records of RTT patients are indeed consistent with central defects in NA and 5HT (Nomura et al, 1985).…”

Section: Abnormal Neurochemical Signaling In Rtt Micementioning

confidence: 99%

Breathing disorders in Rett syndrome: Progressive neurochemical dysfunction in the respiratory network after birth

Katz

Dutschmann

Ramirez

et al. 2009

Respiratory Physiology & Neurobiology

164

126

View full text Add to dashboard Cite

Disorders of respiratory control are a prominent feature of Rett syndrome (RTT), a severely debilitating condition caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MECP2). RTT patients present with a complex respiratory phenotype that can include periods of hyperventilation, apnea, breath holds terminated by Valsalva maneuvers, forced and deep breathing and apneustic breathing, as well as abnormalities of heart rate control and cardiorespiratory integration. Recent studies of mouse models of RTT have begun to shed light on neurologic deficits that likely contribute to respiratory dysfunction including, in particular, defects in neurochemical signaling resulting from abnormal patterns of neurotransmitter and neuromodulator expression. The authors hypothesize that breathing dysregulation in RTT results from disturbances in mechanisms that modulate the respiratory rhythm, acting either alone or in combination with more subtle disturbances in rhythm and pattern generation. This article reviews the evidence underlying this hypothesis as well as recent efforts to translate our emerging understanding of neurochemical defects in mouse models of RTT into preclinical trials of potential treatments for respiratory dysfunction in this disease.

show abstract

Neurochemical aspects of the Rett syndrome

Cited by 61 publications

References 10 publications

Pathophysiology of Locus Ceruleus Neurons in a Mouse Model of Rett Syndrome

Pathophysiology of Locus Ceruleus Neurons in a Mouse Model of Rett Syndrome

Biogenic Amines in Rett Syndrome: The Usual Suspects

Breathing disorders in Rett syndrome: Progressive neurochemical dysfunction in the respiratory network after birth

Contact Info

Product

Resources

About