Abstract
Amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS) are closely linked. PLS might only affect the bulbar innervated muscle and cause spasticity. On the contrary, ALS involves both upper and lower motor neurons. A familial juvenile PLS was identified to be due to mutations in the ALS2 gene, encoding a guanine-nucleotide exchange factor for GTPase [1–5]. The gene is also called alsin, and its mutations are transmitted as autosomal recessive traits.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Yang Y, Hentati A, Deng HX, et al. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet. 2001;29:160–5.
Hadano S, Hand CK, Osuga H, et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet. 2001;29:166–73.
Kress JA, Kuhnlein P, Winter P, et al. Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis. Ann Neurol. 2005;58:800–3.
Shirakawa K, Suzuki H, Ito M, et al. Novel compound heterozygous ALS2 mutations cause juvenile amyotrophic lateral sclerosis in Japan. Neurology. 2009;73:2124–6.
Sheerin UM, Schneider SA, Carr L, et al. ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. Neurology. 2014;82:1065–7.
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 2018 Springer International Publishing Switzerland
About this chapter
Cite this chapter
Angelini, C. (2018). Amyotrophic Lateral Sclerosis Type 2, Juvenile. In: Genetic Neuromuscular Disorders. Springer, Cham. https://doi.org/10.1007/978-3-319-56454-8_106
Download citation
DOI: https://doi.org/10.1007/978-3-319-56454-8_106
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-56453-1
Online ISBN: 978-3-319-56454-8
eBook Packages: MedicineMedicine (R0)