DOI: 10.1002/ana.410140412. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases

10.1002/ana.410140412

Crossref journal-article

Wiley

Annals of Neurology (311)

Abstract

AbstractThirty‐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.

Authors 4

Bengt Hagberg (first)
Jean Aicardi (additional)
Karin Dias (additional)
Ovidio Ramos (additional)

References 8 Referenced 1,181

10.1002/ana.410090210
10.1111/j.1469-1809.1955.tb01281.x
HagbergB:Infantile autistic dementia and loss of hand use: a report of 16 Swedish girl patients. Paper presented at the Research Session of the European Federation of Child Neurology Societies Manchester England June1980
{'key': 'e_1_2_1_5_2', 'first-page': '7', 'article-title': 'The dysequilibrium syndrome in cerebral palsy', 'volume': '226', 'author': 'Hagberg B', 'year': '1972', 'journal-title': 'Acta Paediatr Scand [suppl]'} / Acta Paediatr Scand [suppl] / The dysequilibrium syndrome in cerebral palsy by Hagberg B (1972)
RettA:Ueber ein cerebral‐atrophisches Syndrom bei Hyperammonämie. Vienna Brüder Hollinek 1966
{'key': 'e_1_2_1_7_2', 'first-page': '305', 'volume-title': 'Handbook of Clinical Neurology', 'author': 'Rett A', 'year': '1977'} / Handbook of Clinical Neurology by Rett A (1977)
{'key': 'e_1_2_1_8_2', 'first-page': '723', 'article-title': 'Ueber ein eigenartiges hirnatrophisches Syndrom bei Hyperammoniämie in Kindesater', 'volume': '116', 'author': 'Rett A', 'year': '1966', 'journal-title': 'Wien Med Wochenschr'} / Wien Med Wochenschr / Ueber ein eigenartiges hirnatrophisches Syndrom bei Hyperammoniämie in Kindesater by Rett A (1966)
10.1126/science.7280668

Dates

Type	When
Created	20 years, 8 months ago (Jan. 1, 2005, 10:24 a.m.)
Deposited	1 year, 10 months ago (Oct. 19, 2023, 6:54 p.m.)
Indexed	6 days, 21 hours ago (Aug. 26, 2025, 2:32 a.m.)
Issued	41 years, 11 months ago (Oct. 1, 1983)
Published	41 years, 11 months ago (Oct. 1, 1983)
Published Online	20 years, 10 months ago (Oct. 7, 2004)
Published Print	41 years, 11 months ago (Oct. 1, 1983)

Funders 0

None

BibTeX

@article{Hagberg_1983, title={A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett’s syndrome: Report of 35 cases}, volume={14}, ISSN={1531-8249}, url={http://dx.doi.org/10.1002/ana.410140412}, DOI={10.1002/ana.410140412}, number={4}, journal={Annals of Neurology}, publisher={Wiley}, author={Hagberg, Bengt and Aicardi, Jean and Dias, Karin and Ramos, Ovidio}, year={1983}, month=oct, pages={471–479} }

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