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Often, other diseases can mimic HSP, which may delay diagnosis and treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Whole exome sequencing was performed in families with clinically suspected HSP without a genetic diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We report three patients from two families who presented with lower limb spasticity, muscular atrophy, and other neurological symptoms, who were clinically diagnosed with complicated HSP. Whole exome sequencing revealed bi\u2010allelic <jats:italic>AAAS<\/jats:italic> nonsense mutations; one individual was homozygous for the p.(Arg478*) mutation, and two siblings were homozygous for the p.(Arg286*) mutation, leading to the diagnosis of triple A syndrome. This rare syndrome is typically characterized by a triad of symptoms: achalasia, adrenal insufficiency, and alacrima, and is often accompanied by other neurological abnormalities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our findings suggest that triple A syndrome should be suspected in complicated HSP patients without a known genetic cause, especially if at least one of the main triad of triple A syndrome symptoms is present.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.492","type":"journal-article","created":{"date-parts":[[2018,11,1]],"date-time":"2018-11-01T04:10:49Z","timestamp":1541045449000},"page":"1134-1139","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Triple A syndrome presenting as complicated hereditary spastic paraplegia"],"prefix":"10.1002","volume":"6","author":[{"given":"Etienne","family":"Leveille","sequence":"first","affiliation":[{"name":"Faculty of Medicine 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