{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T10:14:03Z","timestamp":1774606443091,"version":"3.50.1"},"reference-count":23,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2021,11,14]]},"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:p>Allgrove syndrome is an autosomal recessive disease mostly caused by mutations in the <jats:italic>AAAS<\/jats:italic> gene. It has variable clinical features but its cardinal features comprise the triad of achalasia, alacrimia and adrenal insufficiency. It typically develops during the first decade of life, but some cases have second and third decades onset. We describe a 25-year-old woman with Allgrove syndrome who had progressive amyotrophy, achalasia, dry eyes and adrenal insufficiency since childhood. Awareness of its neurological manifestations and multisystem features helps to shorten the time for diagnosis and allow appropriate symptomatic treatment.<\/jats:p>","DOI":"10.1136\/practneurol-2021-003192","type":"journal-article","created":{"date-parts":[[2021,12,30]],"date-time":"2021-12-30T13:28:20Z","timestamp":1640870900000},"page":"213-215","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Allgrove syndrome with amyotrophy"],"prefix":"10.1136","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3725-4464","authenticated-orcid":false,"given":"M\u00edriam Carvalho","family":"Soares","sequence":"first","affiliation":[{"name":"Neurology Department, Hospital das Cl\u00ednicas de Pernambuco, Recife, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ot\u00e1vio Gomes","family":"Lins","sequence":"additional","affiliation":[{"name":"Neurology Department, Hospital das Cl\u00ednicas de Pernambuco, Recife, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Ronaldo","family":"Lima de Carvalho","sequence":"additional","affiliation":[{"name":"Ophthalmology Department, Hospital das Cl\u00ednicas de Pernambuco Recife, Recife, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cl\u00e1udia Cristina","family":"de S\u00e1","sequence":"additional","affiliation":[{"name":"Gastroenterology Department, Universidade de Pernambuco, Recife, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vanessa","family":"Van der Linden","sequence":"additional","affiliation":[{"name":"Rarus \u2013 Servi\u00e7o de Refer\u00eancia em Doen\u00e7as Raras, Recife, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna Paula Paranhos Miranda","family":"Covaleski","sequence":"additional","affiliation":[{"name":"Neurology Department, Hospital das Cl\u00ednicas de Pernambuco, Recife, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,12,30]]},"reference":[{"key":"2025090411461122000_22.3.213.1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-011-6115-9"},{"key":"2025090411461122000_22.3.213.2","doi-asserted-by":"crossref","DOI":"10.4081\/ni.2018.7436","article-title":"Allgrove syndrome and motor neuron disease","volume":"10","author":"de Freitas","year":"2018","journal-title":"Neurol Int"},{"key":"2025090411461122000_22.3.213.3","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(78)91268-0"},{"key":"2025090411461122000_22.3.213.4","doi-asserted-by":"crossref","first-page":"703","DOI":"10.12659\/AJCR.899546","article-title":"Alacrima as a harbinger of adrenal insufficiency in a child with Allgrove (AAA) syndrome","volume":"17","author":"Brown","year":"2016","journal-title":"Am J Case Rep"},{"key":"2025090411461122000_22.3.213.5","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/j.jns.2013.10.003","article-title":"\u201cA\u201d motor neuron disease","volume":"336","author":"Vishnu","year":"2014","journal-title":"J Neurol Sci"},{"key":"2025090411461122000_22.3.213.6","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-83"},{"key":"2025090411461122000_22.3.213.7","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1111\/ped.13848","article-title":"Early juvenile Tay-Sachs disease with atypical symptoms","volume":"61","author":"Sakurai","year":"2019","journal-title":"Pediatrics International"},{"key":"2025090411461122000_22.3.213.8","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1002\/mus.23770","article-title":"Triple a syndrome in Japan","volume":"48","author":"Ikeda","year":"2013","journal-title":"Muscle Nerve"},{"key":"2025090411461122000_22.3.213.9","doi-asserted-by":"publisher","DOI":"10.1007\/BF01972967"},{"key":"2025090411461122000_22.3.213.10","doi-asserted-by":"crossref","unstructured":"Nakamura K , Yoshida K , Yoshinaga T , et al . 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