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Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia

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References

  1. Allgrove J, Clayden GS, Grant DB, Macaulay JC. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet. 1978;1:1284–6. https://doi.org/10.1016/S0140-6736(78)91268-0.

    Article  CAS  PubMed  Google Scholar 

  2. Grant DB, Barnes ND, Dumic M, Ginalska-Malinowska M, Milla PJ, von Petrykowski W, et al. Neurological and adrenal dysfunction in the adrenal insufficiency/alacrima/achalasia (3A) syndrome. Arch Dis Child. 1993;68(6):779–82.

    Article  CAS  Google Scholar 

  3. Krumbholz M, Koehler K, Huebner A. Cellular localization of 17 natural mutant variants of ALADIN protein in triple a syndrome - shedding light on an unexpected splice mutation. Biochem Cell Biol. 2006;84(2):243–9.

    Article  CAS  Google Scholar 

  4. Ikeda M, Hirano M, Shinoda K, Katsumata N, Furutama D, Nakamura K, et al. Triple A syndrome in Japan. Muscle Nerve. 2013;48(3):381–6. https://doi.org/10.1002/mus.23770.

    Article  CAS  PubMed  Google Scholar 

  5. Dumic M, Barišic N, Kusec V, Stingl K, Skegro M, Stanimirovic A, et al. Long-term clinical follow-up and molecular genetic findings in eight patients with triple a syndrome. Eur J Pediatr. 2012;171(10):1453–9.

    Article  CAS  Google Scholar 

  6. Vallet AE, Verschueren A, Petiot P, Vandenberghe N, Nicolino M, Roman S, et al. Neurological features in adult triple-A (Allgrove) syndrome. J Neurol. 2012;259(1):39–46. https://doi.org/10.1007/s00415-011-6115-9.

    Article  PubMed  Google Scholar 

  7. Meloni A, Casini MR, Mazzitti R, Congia R, Rosatelli RC, Bonomi M. Genotypic heterogeneity and clinical phenotype in two patients with triple a syndrome (AAAS). ESPE Abstracts. 2015;84:P2–178.

    Google Scholar 

  8. Krull I, M-Woelfle M, Bärlocher K, Koehler K, Huebner A, Brändle M. Two patients with an identical novel mutation in the AAAS gene and similar phenotype of triple A (Allgrove) syndrome. Exp Clin Endocrinol Diabetes. 2010;118:530–6. https://doi.org/10.1055/s-0030-1247516.

    Article  CAS  PubMed  Google Scholar 

  9. Palka C, Giuliani R, Brancati F, Mohn A, Di Muzio A, Calabrese O, et al. Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. Clin Genet. 2010;77(3):298–301. https://doi.org/10.1111/j.1399-0004.2009.01348.x.

    Article  CAS  PubMed  Google Scholar 

  10. Kimber J, McLean BN, Prevett M, Hammans SR. Allgrove or 4 “A” syndrome: an autosomal recessive syndrome causing multisystem neurological disease. J Neurol Neurosurg Psychiatry. 2003;74(5):654–7.

    Article  CAS  Google Scholar 

  11. Leveille E, Gonorazky HD, Rioux MF, Hazrati LN, Ruskey JA, Carnevale A, et al. Triple A syndrome presenting as complicated hereditary spastic paraplegia. Mol Genet Genomic Med. 2018;6(6):1134–9.

    Article  CAS  Google Scholar 

  12. Milenkovic T, Zdravkovic D, Savic N, Todorovic S, Mitrovic K, Koehler K, et al. Triple A syndrome: 32 years experience of a single centre (1977-2008). Eur J Pediatr. 2010;169(11):1323–8. https://doi.org/10.1007/s00431-010-1222-7.

    Article  PubMed  Google Scholar 

  13. Hirano M, Furiya Y, Asai H, Yasui A, Ueno S. ALADINI482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple a syndrome. Proc Natl Acad Sci U S A. 2006;103(7):2298–303.

    Article  CAS  Google Scholar 

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Correspondence to Jonas Alex Morales Saute.

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Lorea, C.F., Tenório, R.B., Koenig, M. et al. Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia. Cerebellum 19, 465–468 (2020). https://doi.org/10.1007/s12311-020-01123-9

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