Die angeborenen Stoffwechselanomalien des Menschen

Schreier, K

doi:10.1007/bf01682785

Cited by 12 publications

(1 citation statement)

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“…He described 3 1 girls characterized by mental regression, abnormal neurology, curious, repetitive, wringing stereotypic hand movements and other peculiar behavioural symptomatology. Additional information appeared in the German literature throughout the 1970s (4,5). Unfortunately, Rett's work remained largely unknown outside Austria and Germany for many years.…”

Section: Historymentioning

confidence: 99%

Rett syndrome: clinical peculiarities and biological mysteries

Hagberg¹

1995

Acta Paediatrica

118

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Rett syndrome, a peculiar neurodevelopmental deficiency affecting females, which starts in early childhood, is reviewed based on a Swedish series of 170 females, 2-52 years of age (to December 1994). To date, the well recognized classical phenotype was found in 75% of cases. Atypical variant forms, mainly more mildly affected mentally retarded girls and adolescent women, were still in a minority, but constitute, with increasing experience, an expanding cohort. The biology and genetics of the condition seem puzzling. Traditional neurodegenerative pathology has been excluded. An age-limited neurodevelopmental, as yet unknown, brain growth deficiency, is at present indicated. The syndrome is most probably genetically determined, but the mode of transmission is not convincingly compatible with any known pattern.

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Section: Historymentioning

confidence: 99%