Skip to main content

Amyotrophic Lateral Sclerosis Type 2, Juvenile

  • Chapter
  • First Online:
Genetic Neuromuscular Disorders
  • 159 Accesses

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.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 119.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 159.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. 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.

    Article  CAS  PubMed  Google Scholar 

  2. 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.

    Article  CAS  PubMed  Google Scholar 

  3. 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.

    Article  CAS  PubMed  Google Scholar 

  4. 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.

    Article  CAS  PubMed  Google Scholar 

  5. Sheerin UM, Schneider SA, Carr L, et al. ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. Neurology. 2014;82:1065–7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints 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)

Publish with us

Policies and ethics