Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type

2008 ◽  
Vol 23 (10) ◽  
pp. 1384-1390 ◽  
Author(s):  
Teresa Temudo ◽  
Elisabete Ramos ◽  
Karin Dias ◽  
Clara Barbot ◽  
Jose P. Vieira ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Movement Disorders ◽  
Mecp2 Mutation ◽  
Mutation Type

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome

2019 ◽  
Author(s):  
Carla Caffarelli ◽  
Tomai Pitinca Maria Dea ◽  
Valentina Francolini ◽  
Roberto Canitano ◽  
felice Claudio De ◽  
...  
Keyword(s):  
Disease Severity ◽  
Rett Syndrome ◽  
Bone Disease ◽  
Binding Protein ◽  
Mecp2 Mutation ◽  
Mutation Type

scholarly journals Methyl-CpG-binding protein 2(MECP2) mutation type is associated with disease severity in Rett syndrome

2014 ◽  
Vol 51 (3) ◽  
pp. 152-158 ◽  
Author(s):  
Vishnu Anand Cuddapah ◽  
Rajesh B Pillai ◽  
Kiran V Shekar ◽  
Jane B Lane ◽  
Kathleen J Motil ◽  
...  
Keyword(s):  
Disease Severity ◽  
Rett Syndrome ◽  
Binding Protein ◽  
Mecp2 Mutation ◽  
Mutation Type

scholarly journals The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population

2011 ◽  
Vol 5 (1) ◽  
pp. 442-449 ◽  
Author(s):  
Deidra Young ◽  
Ami Bebbington ◽  
Nick de Klerk ◽  
Carol Bower ◽  
Lakshmi Nagarajan ◽  
...  
Keyword(s):  
Health Status ◽  
Rett Syndrome ◽  
Service Use ◽  
Mecp2 Mutation ◽  
The Relationship ◽  
Over Time ◽  
Mutation Type

scholarly journals Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Carla Caffarelli ◽  
Stefano Gonnelli ◽  
Maria Dea Tomai Pitinca ◽  
Silvia Camarri ◽  
Antonella Al Refaie ◽  
...  
Keyword(s):  
Disease Severity ◽  
Rett Syndrome ◽  
Bone Disease ◽  
Binding Protein ◽  
Mecp2 Mutation ◽  
Mutation Type

Rett syndrome and associated movement disorders

1990 ◽  
Vol 5 (3) ◽  
pp. 195-202 ◽  
Author(s):  
Patricia M. FitzGerald ◽  
Joseph Jankovic ◽  
Alan K. Percy
Keyword(s):  
Rett Syndrome ◽  
Movement Disorders

Anti-MOG antibody encephalitis mimicking neurological deterioration in a case of Rett syndrome with MECP2 mutation

2018 ◽  
Vol 40 (10) ◽  
pp. 943-946 ◽  
Author(s):  
Hiroo Tani ◽  
Nobutsune Ishikawa ◽  
Yoshiyuki Kobayashi ◽  
Shohei Yamaoka ◽  
Yuji Fujii ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Neurological Deterioration ◽  
Mecp2 Mutation

Phenotypic variability in two infants sharing the same MECP2 mutation: evidence of chromosomal rearrangements and high sister-chromatid exchange levels in Rett syndrome

2016 ◽  
Vol 117 (1) ◽  
pp. 251-258 ◽  
Author(s):  
Marwa Kharrat ◽  
Ines Hsairi ◽  
Hajer Doukali ◽  
Nourhene Fendri-Kriaa ◽  
Hassen Kammoun ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Sister Chromatid ◽  
Sister Chromatid Exchange ◽  
Phenotypic Variability ◽  
Chromosomal Rearrangements ◽  
Mecp2 Mutation

Influence of Mutation Type and Location on Phenotype in 123 Patients with Rett Syndrome

2002 ◽  
Vol 33 (2) ◽  
pp. 63-68 ◽  
Author(s):  
P. Huppke ◽  
M. Held ◽  
F. Hanefeld ◽  
W. Engel ◽  
F. Laccone
Keyword(s):  
Rett Syndrome ◽  
Mutation Type

Associations Among Diurnal Salivary Cortisol Patterns, Medication Use, and Behavioral Phenotype Features in a Community Sample of Rett Syndrome

2020 ◽  
Vol 125 (5) ◽  
pp. 353-368
Author(s):  
Breanne J. Byiers ◽  
Ameante Payen ◽  
Timothy Feyma ◽  
Angela Panoskaltsis-Mortari ◽  
Michael J. Ehrhardt ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Hpa Axis ◽  
Stress Responses ◽  
Salivary Cortisol ◽  
Community Sample ◽  
Neurodevelopmental Disorder ◽  
Medication Use ◽  
Behavioral Phenotype ◽  
Anticonvulsant Medication ◽  
Mutation Type

Abstract Rett syndrome (RTT) is a severe neurodevelopmental disorder resulting from mutations of the MECP2 gene. Hyperactivity of the hypothalamic-pituitary-adrenal (HPA) axis and abnormal stress responses have been observed in animal models of RTT, but little is known about HPA axis function among individuals with RTT. Diurnal salivary cortisol patterns from 30 females with RTT were examined in relation to mutation type, medication use, and features of the RTT behavioral phenotype. Cortisol patterns were significantly related to mutation severity, anticonvulsant medication status, and bruxism (tooth grinding). This study provides preliminary support for the hypothesis that RTT may be at risk for outcomes associated with aberrant HPA axis function, and that this risk may be mediated by mutation type.

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