ArticleMolecular genetics & genomic medicine2018
Triple A syndrome presenting as complicated hereditary spastic paraplegia.
Article in Molecular genetics & genomic medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 11 citations in OpenAlex.
- HACE1, GLRX5, and ELP2 gene variant cause spastic paraplegies.Acta neurologica Belgica · 2022Article
- Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia.Cerebellum (London, England) · 2020Article
- A broad range of symptoms in allgrove syndrome: single center experience in Southeast Anatolia.Journal of endocrinological investigation · 2020Article
- SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia.Journal of human genetics · 2019Article
- Triple A syndrome presenting as complicated hereditary spastic paraplegia.Molecular genetics & genomic medicine · 2018Article
- Spectral Domain - Optical Coherence Tomography findings in Triple-A Syndrome - A case series from Pakistan.Pakistan journal of medical sciencesArticle
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundHereditary spastic paraplegia (HSP) is a group of rare disorders characterized by spastic paraparesis and other symptoms. Often, other diseases can mimic HSP, which may delay diagnosis and treatment.
methodsWhole exome sequencing was performed in families with clinically suspected HSP without a genetic diagnosis.
resultsWe 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-allelic AAAS 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.
conclusionsOur 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.
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