Abstract
Abstract Thirty‐five patients, exclusively girls, from three countries had a uniform and striking progressive encephalopathy. After normal general and psychomotor development up to the age of 7 to 18 months, developmental stagnation occurred, followed by rapid deterioration of higher brain functions. Within one‐and‐a‐half years this deterioration led to severe dementia, autism, loss of purposeful use of the hands, jerky truncal ataxia, and acquired microcephaly. The destructive stage was followed by apparent stability lasting through decades. Additional insidious neurological abnormalities supervened, mainly spastic parapareses, vasomotor disturbances of the lower limbs, and epilepsy. Prior extensive laboratory investigations have not revealed the cause. The condition is similar to a virtually overlooked syndrome described by Rett in the German literature. The exclusive involvement of females, correlated with findings in family data analyses, suggests a dominant mutation on one X chromosome that results in affected girls and nonviable male hemizygous conceptuses.
Keywords
Rett syndromeMicrocephalyAtaxiaDementiaPediatricsPsychomotor learningAutismEncephalopathyMedicinePsychologyEpilepsyPsychiatryDiseaseInternal medicineCognition
MeSH Terms
AdolescentAdultAmmoniaApraxiasAtaxiaAutistic DisorderChildChild DevelopmentChildPreschoolDementiaElectroencephalographyEpilepsyFemaleFollow-Up StudiesHumansInfantMicrocephalyMotor SkillsMuscle SpasticityParalysisPsychomotor DisordersStereotyped BehaviorSyndrome
Affiliated Institutions
Related Publications
Pathological Changes in the Parahippocampal Region in Select Non‐Alzheimer's Dementias
A bstract : The transentorhinal and entorhinal regions of the human brain extend over the ambient gyrus and anterior portions of the parahippocampal gyrus. They are important co...
Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases.
Few detailed clinico-pathological correlations of Parkinson's disease have been published. The pathological findings in 100 patients diagnosed prospectively by a group of consul...
Tau Suppression in a Neurodegenerative Mouse Model Improves Memory Function
Neurofibrillary tangles (NFTs) are the most common intraneuronal inclusion in the brains of patients with neurodegenerative diseases and have been implicated in mediating neuron...
Five-Year Survival with Combined Nivolumab and Ipilimumab in Advanced Melanoma
BACKGROUND Nivolumab plus ipilimumab or nivolumab alone resulted in longer progression-free and overall survival than ipilimumab alone in a trial involving patients with advance...
The diagnosis and management of non-alcoholic fatty liver disease: Practice Guideline by the American Association for the Study of Liver Diseases, American College of Gastroenterology, and the American Gastroenterological Association
These recommendations are based on the following: (1) a formal review and analysis of the recently published world literature on the topic [Medline search up to June 2011]; (2) ...
Publication Info
- Year
- 1983
- Type
- article
- Volume
- 14
- Issue
- 4
- Pages
- 471-479
- Citations
- 1491
- Access
- Closed
External Links
Social Impact
Altmetric
PlumX Metrics
Social media, news, blog, policy document mentions
Citation Metrics
1491
OpenAlex
56
Influential
1205
CrossRef
Cite This
Bengt Hagberg,
Jean Aicardi,
Karin Ziliotto Dias
et al.
(1983).
A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases.
Annals of Neurology
, 14
(4)
, 471-479.
https://doi.org/10.1002/ana.410140412
Identifiers
- DOI
- 10.1002/ana.410140412
- PMID
- 6638958