例如："lncRNA", "apoptosis", "WRKY"

Triple A syndrome presenting as complicated hereditary spastic paraplegia.

Mol Genet Genomic Med. 2018 Nov;6(6):1134-1139. doi:10.1002/mgg3.492. Epub 2018 Oct 31
Etienne Leveille 1 , Hernan D Gonorazky 2 , Marie-France Rioux 3 , Lili-Naz Hazrati 4 , Jennifer A Ruskey 5 , Amanda Carnevale 6 , Dan Spiegelman 5 , Alexandre Dionne-Laporte 5 , Guy A Rouleau 7 , Grace Yoon 6 , Ziv Gan-Or 7
Etienne Leveille 1 , Hernan D Gonorazky 2 , Marie-France Rioux 3 , Lili-Naz Hazrati 4 , Jennifer A Ruskey 5 , Amanda Carnevale 6 , Dan Spiegelman 5 , Alexandre Dionne-Laporte 5 , Guy A Rouleau 7 , Grace Yoon 6 , Ziv Gan-Or 7
+ et al

[No authors listed]

Author information
  • 1 Faculty of Medicine, McGill University, Montréal, Québec, Canada.
  • 2 Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • 3 Department of Neurology, Université de Sherbrooke, Sherbrooke, Québec, Canada.
  • 4 Department of Laboratory Medicine and Pathobiology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • 5 Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.
  • 6 Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • 7 Department of Human Genetics, McGill University, Montréal, Québec, Canada.

摘要

BACKGROUND:Hereditary 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. METHODS:Whole exome sequencing was performed in families with clinically suspected HSP without a genetic diagnosis. RESULTS: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-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. CONCLUSIONS: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.

KEYWORDS: AAAS, hereditary spastic paraplegia, triple A syndrome

© 2017 biocloud.net版权所有 ICP证：京10042835号