Partington Syndrome

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Xu, R. Partington Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/5132 (accessed on 22 September 2026).

Xu R. Partington Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/5132. Accessed September 22, 2026.

Xu, Rita. "Partington Syndrome" Encyclopedia, https://encyclopedia.pub/entry/5132 (accessed September 22, 2026).

Xu, R. (2020, December 24). Partington Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/5132

Xu, Rita. "Partington Syndrome." Encyclopedia. Web. 24 December, 2020.

Partington Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/partington-syndrome

Partington syndrome is a neurological disorder that causes intellectual disability along with a condition called focal dystonia that particularly affects movement of the hands. Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe.

genetic conditions

References

Cossée M, Faivre L, Philippe C, Hichri H, de Saint-Martin A, Laugel V,Bahi-Buisson N, Lemaitre JF, Leheup B, Delobel B, Demeer B, Poirier K, BiancalanaV, Pinoit JM, Julia S, Chelly J, Devys D, Mandel JL. ARX polyalanine expansionsare highly implicated in familial cases of mental retardation with infantileepilepsy and/or hand dystonia. Am J Med Genet A. 2011 Jan;155A(1):98-105. doi:10.1002/ajmg.a.33785.
Frints SG, Froyen G, Marynen P, Willekens D, Legius E, Fryns JP. Re-evaluationof MRX36 family after discovery of an ARX gene mutation reveals mild neurologicalfeatures of Partington syndrome. Am J Med Genet. 2002 Nov 1;112(4):427-8.
Grønskov K, Diness B, Stahlhut M, Zilmer M, Tümer Z, Bisgaard AM,Brøndum-Nielsen K. Mosaicism for c.431_454dup in ARX causes a mild Partingtonsyndrome phenotype. Eur J Med Genet. 2014 May-Jun;57(6):284-7. doi:10.1016/j.ejmg.2014.03.009.
Partington MW, Turner G, Boyle J, Gécz J. Three new families with X-linkedmental retardation caused by the 428-451dup(24bp) mutation in ARX. Clin Genet.2004 Jul;66(1):39-45.
Poirier K, Lacombe D, Gilbert-Dussardier B, Raynaud M, Desportes V, de BrouwerAP, Moraine C, Fryns JP, Ropers HH, Beldjord C, Chelly J, Bienvenu T. Screeningof ARX in mental retardation families: Consequences for the strategy of moleculardiagnosis. Neurogenetics. 2006 Mar;7(1):39-46.
Sherr EH. The ARX story (epilepsy, mental retardation, autism, and cerebralmalformations): one gene leads to many phenotypes. Curr Opin Pediatr. 2003Dec;15(6):567-71. Review.
Shoubridge C, Fullston T, Gécz J. ARX spectrum disorders: making inroads into the molecular pathology. Hum Mutat. 2010 Aug;31(8):889-900. doi:10.1002/humu.21288. Review.
Suri M. The phenotypic spectrum of ARX mutations. Dev Med Child Neurol. 2005Feb;47(2):133-7. Review.
Turner G, Partington M, Kerr B, Mangelsdorf M, Gecz J. Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two familieswith an identical ARX gene mutation. Am J Med Genet. 2002 Nov 1;112(4):405-11.

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Subjects: Genetics & Heredity

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Update Date: 17 Jun 2021

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