Juvenile Primary Lateral Sclerosis

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Xu, C. Juvenile Primary Lateral Sclerosis. Encyclopedia. Available online: https://encyclopedia.pub/entry/4364 (accessed on 25 September 2026).

Xu C. Juvenile Primary Lateral Sclerosis. Encyclopedia. Available at: https://encyclopedia.pub/entry/4364. Accessed September 25, 2026.

Xu, Camila. "Juvenile Primary Lateral Sclerosis" Encyclopedia, https://encyclopedia.pub/entry/4364 (accessed September 25, 2026).

Xu, C. (2020, December 23). Juvenile Primary Lateral Sclerosis. In Encyclopedia. https://encyclopedia.pub/entry/4364

Xu, Camila. "Juvenile Primary Lateral Sclerosis." Encyclopedia. Web. 23 December, 2020.

Juvenile Primary Lateral Sclerosis

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/juvenile-primary-lateral-sclerosis

Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and tightness (spasticity) of muscles in the arms, legs, and face. The features of this disorder are caused by damage to motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement.

genetic conditions

References

Hadano S, Kunita R, Otomo A, Suzuki-Utsunomiya K, Ikeda JE. Molecular andcellular function of ALS2/alsin: implication of membrane dynamics in neuronaldevelopment and degeneration. Neurochem Int. 2007 Jul-Sep;51(2-4):74-84.
Mintchev N, Zamba-Papanicolaou E, Kleopa KA, Christodoulou K. A novel ALS2splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosisfamily. Neurology. 2009 Jan 6;72(1):28-32. doi:10.1212/01.wnl.0000338530.77394.60.
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/
Panzeri C, De Palma C, Martinuzzi A, Daga A, De Polo G, Bresolin N, Miller CC,Tudor EL, Clementi E, Bassi MT. The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function. Brain. 2006 Jul;129(Pt7):1710-9.
Yang Y, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M, Hung WY, Ouahchi K,Yan J, Azim AC, Cole N, Gascon G, Yagmour A, Ben-Hamida M, Pericak-Vance M,Hentati F, Siddique T. The gene encoding alsin, a protein with threeguanine-nucleotide exchange factor domains, is mutated in a form of recessiveamyotrophic lateral sclerosis. Nat Genet. 2001 Oct;29(2):160-5.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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