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Pediatric Neurology, 2020
BACKGROUND Rett syndrome is a neurodevelopmental disorder with potential for improvement through novel targeted therapeutics. Reliable outcome measures are critical to the development of treatments.
Usree Bhattacharya +2 more
exaly +2 more sources
BACKGROUND Rett syndrome is a neurodevelopmental disorder with potential for improvement through novel targeted therapeutics. Reliable outcome measures are critical to the development of treatments.
Usree Bhattacharya +2 more
exaly +2 more sources
Neuropathology of Rett syndrome
Mental Retardation and Developmental Disabilities Research Reviews, 2002Rett syndrome is a sporadic disorder (except for a few familial cases) occurring in 1 in 10,000 to 1 in 23,000 girls worldwide. It is associated with profound mental and motor handicap. About 90% of cases involve a mutation in the methyl-CpG binding protein 2 gene ( MECP2).
Dawna Armstrong
exaly +4 more sources
Lancet Neurology, 2020
The X-linked gene encoding MECP2 is involved in two severe and complex neurodevelopmental disorders. Loss of function of the MeCP2 protein underlies Rett syndrome, whereas duplications of the MECP2 locus cause MECP2 duplication syndrome.
Alexander J. Sandweiss +2 more
semanticscholar +1 more source
The X-linked gene encoding MECP2 is involved in two severe and complex neurodevelopmental disorders. Loss of function of the MeCP2 protein underlies Rett syndrome, whereas duplications of the MECP2 locus cause MECP2 duplication syndrome.
Alexander J. Sandweiss +2 more
semanticscholar +1 more source
The Indian Journal of Pediatrics, 2000
Rett syndrome is a progressive neurodegenerative disease of unknown etiology. Reported here are three children who presented with all clinical features of Rett syndrome. The aim of this presentation is to alert physicians to the existence of this progressive brain disease which only affects girls and so far no specific treatment has been suggested.
M, Ghofrani, T, Mahmoodian
openaire +2 more sources
Rett syndrome is a progressive neurodegenerative disease of unknown etiology. Reported here are three children who presented with all clinical features of Rett syndrome. The aim of this presentation is to alert physicians to the existence of this progressive brain disease which only affects girls and so far no specific treatment has been suggested.
M, Ghofrani, T, Mahmoodian
openaire +2 more sources
Current Opinion in Neurology, 1995
Rett syndrome is a unique and puzzling disorder noted in females, and is possibly caused by fundamental failures in critical brain connectivity during early infancy. Recent reports expand our understanding of the Rett syndrome phenotype, continue the pattern of inconsistent or inconclusive metabolic and genetic results, and extend observations ...
openaire +2 more sources
Rett syndrome is a unique and puzzling disorder noted in females, and is possibly caused by fundamental failures in critical brain connectivity during early infancy. Recent reports expand our understanding of the Rett syndrome phenotype, continue the pattern of inconsistent or inconclusive metabolic and genetic results, and extend observations ...
openaire +2 more sources
The Journal of Pediatrics, 1997
Bone density analysis, dietary intake, and anthropometrics were compared in 20 subjects with Rett syndrome (RS), 25 normal control subjects, and 11 girls with cerebral palsy. Bone mineral density, bone mineral content, and spine (bone) mineral density were significantly reduced in the RS group.
R H, Haas +3 more
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Bone density analysis, dietary intake, and anthropometrics were compared in 20 subjects with Rett syndrome (RS), 25 normal control subjects, and 11 girls with cerebral palsy. Bone mineral density, bone mineral content, and spine (bone) mineral density were significantly reduced in the RS group.
R H, Haas +3 more
openaire +2 more sources
Journal of Pediatric Orthopaedics, 1988
Rett syndrome is a progressive encephalopathy observed only in girls, who are apparently normal until 6 to 12 months of age. It is characterized by autism, dementia, ataxia, stereotypic hand movements, hyperreflexia, spasticity, and seizures. Eight of 10 females with Rett syndrome evaluated at the Alfred I.
D, Keret +3 more
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Rett syndrome is a progressive encephalopathy observed only in girls, who are apparently normal until 6 to 12 months of age. It is characterized by autism, dementia, ataxia, stereotypic hand movements, hyperreflexia, spasticity, and seizures. Eight of 10 females with Rett syndrome evaluated at the Alfred I.
D, Keret +3 more
openaire +2 more sources
Child and Adolescent Psychiatric Clinics of North America, 2007
Rett syndrome (RS) is an X-linked neurodevelopmental disorder and the second most common cause of genetic mental retardation in females. Different mutations in MECP2 are found in up to 95% of typical cases of RS. This mainly neuronal expressed gene functions as a major transcription repressor. Extensive studies on girls who have RS and mouse models are
openaire +2 more sources
Rett syndrome (RS) is an X-linked neurodevelopmental disorder and the second most common cause of genetic mental retardation in females. Different mutations in MECP2 are found in up to 95% of typical cases of RS. This mainly neuronal expressed gene functions as a major transcription repressor. Extensive studies on girls who have RS and mouse models are
openaire +2 more sources
Journal of Child Neurology, 2003
Girls with Rett syndrome display signs of neuronal dysfunction including mental retardation, seizures, stereotyped movements, and abnormal breathing and autonomic control. Decelerating head growth during infancy might reflect a disorder in production or pruning of neuronal synapses or both.
Michael V, Johnston +2 more
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Girls with Rett syndrome display signs of neuronal dysfunction including mental retardation, seizures, stereotyped movements, and abnormal breathing and autonomic control. Decelerating head growth during infancy might reflect a disorder in production or pruning of neuronal synapses or both.
Michael V, Johnston +2 more
openaire +2 more sources
Neuropediatrics, 1995
From a neurobiologic perspective, Rett syndrome appears to disrupt the growth of axonodendritic connections among neurons. The cell packing density within the grey matter is increased but the total number of neurons is relatively normal, except for selected neuronal populations such as the nucleus basalis of Meynert (NBM) and the substantia nigra ...
M V, Johnston, C, Hohmann, M E, Blue
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From a neurobiologic perspective, Rett syndrome appears to disrupt the growth of axonodendritic connections among neurons. The cell packing density within the grey matter is increased but the total number of neurons is relatively normal, except for selected neuronal populations such as the nucleus basalis of Meynert (NBM) and the substantia nigra ...
M V, Johnston, C, Hohmann, M E, Blue
openaire +2 more sources