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Xu, C. Infantile-Onset Ascending Hereditary Spastic Paralysis. Encyclopedia. Available online: https://encyclopedia.pub/entry/4222 (accessed on 28 September 2026).
Xu C. Infantile-Onset Ascending Hereditary Spastic Paralysis. Encyclopedia. Available at: https://encyclopedia.pub/entry/4222. Accessed September 28, 2026.
Xu, Camila. "Infantile-Onset Ascending Hereditary Spastic Paralysis" Encyclopedia, https://encyclopedia.pub/entry/4222 (accessed September 28, 2026).
Xu, C. (2020, December 23). Infantile-Onset Ascending Hereditary Spastic Paralysis. In Encyclopedia. https://encyclopedia.pub/entry/4222
Xu, Camila. "Infantile-Onset Ascending Hereditary Spastic Paralysis." Encyclopedia. Web. 23 December, 2020.
Infantile-Onset Ascending Hereditary Spastic Paralysis
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/infantile-onset-ascending-hereditary-spastic-paralysis

Infantile-onset ascending hereditary spastic paralysis is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and eventual paralysis of the lower limbs (paraplegia).

genetic conditions

References

  1. Eker HK, Unlü SE, Al-Salmi F, Crosby AH. A novel homozygous mutation in ALS2gene in four siblings with infantile-onset ascending hereditary spasticparalysis. Eur J Med Genet. 2014 May-Jun;57(6):275-8. doi:10.1016/j.ejmg.2014.03.006.
  2. Lesca G, Eymard-Pierre E, Santorelli FM, Cusmai R, Di Capua M, Valente EM,Attia-Sobol J, Plauchu H, Leuzzi V, Ponzone A, Boespflug-Tanguy O, Bertini E.Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11families. Neurology. 2003 Feb 25;60(4):674-82.
  3. Orrell RW. ALS2-Related Disorders. 2005 Oct 21 [updated 2016 Jan 28]. In: AdamMP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle;1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1243/
  4. Racis L, Tessa A, Pugliatti M, Storti E, Agnetti V, Santorelli FM.Infantile-onset ascending hereditary spastic paralysis: a case report and briefliterature review. Eur J Paediatr Neurol. 2014 Mar;18(2):235-9. doi:10.1016/j.ejpn.2013.09.009.
  5. Wakil SM, Ramzan K, Abuthuraya R, Hagos S, Al-Dossari H, Al-Omar R, Murad H,Chedrawi A, Al-Hassnan ZN, Finsterer J, Bohlega S. Infantile-onset ascendinghereditary spastic paraplegia with bulbar involvement due to the novel ALS2mutation c.2761C>T. Gene. 2014 Feb 15;536(1):217-20. doi:10.1016/j.gene.2013.11.043.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
View Times: 770
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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