Skip to main content Accessibility help
×
Hostname: page-component-848d4c4894-hfldf Total loading time: 0 Render date: 2024-05-07T14:49:09.470Z Has data issue: false hasContentIssue false

Adolescent Disorders

from Section 4 - Neurodegenerative and Other Progressive Disorders in Childhood

Published online by Cambridge University Press:  28 April 2017

Juan M. Pascual
Affiliation:
University of Texas Southwestern Medical Center, Dallas
Get access

Summary

Image of the first page of this content. For PDF version, please use the ‘Save PDF’ preceeding this image.'
Type
Chapter
Information
Publisher: Cambridge University Press
Print publication year: 2017

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Bibliography

Patell, R., Dosi, R., Joshi, H.K., et al. (2014). Atypical neuroimaging in Wilson’s disease. BMJ Case Rep. 2014. pii:bcr2013200100.CrossRefGoogle Scholar

Bibliography

Dusek, P., Schneider, S.A., Aaseth, J. (2016). Iron chelation in the treatment of neurodegenerative diseases. J Trace Elem Med Biol. pii:S0946–672X(16)30047–5.Google Scholar
Meyer, E., Kurian, M.A., Hayflick, S.J. (2015). Neurodegeneration with brain iron accumulation: Genetic diversity and pathophysiological mechanisms. Annu Rev Genomics Hum Genet. 16:257–79.CrossRefGoogle ScholarPubMed
Schulte, E.C., Claussen, M.C., Jochim, A., et al. (2013). Mitochondrial membrane protein associated neurodegeneration: A novel variant of neurodegeneration with brain iron accumulation. Mov Disord. 28(2):224–7.CrossRefGoogle ScholarPubMed

Bibliography

Kuhn, J., Bewermeyer, H., Miyajima, H., et al. (2007). Treatment of symptomatic heterozygous aceruloplasminemia with oral zinc sulphate. Brain Dev. 29(7):450–3.CrossRefGoogle ScholarPubMed
Meyer, E., Kurian, M.A., Hayflick, S.J. (2015). Neurodegeneration with brain iron accumulation: Genetic diversity and pathophysiological mechanisms. Annu Rev Genomics Hum Genet. 16:257–79.CrossRefGoogle ScholarPubMed

Bibliography

Jain, R.S., Sannegowda, R.B., Agrawal, A., et al. (2013). “Hot cross bun” sign in a case of cerebrotendinous xanthomatosis: A rare neuroimaging observation. BMJ Case Rep. 2013. pii:bcr2012006641.Google Scholar
Nie, S., Chen, G., Cao, X., et al. (2014). Cerebrotendinous xanthomatosis: A comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. Orphanet J Rare Dis. 9:179.CrossRefGoogle ScholarPubMed

Bibliography

Monrad, P., Renaud, D.L. (2013). Typical clinical findings should prompt investigation for juvenile Huntington disease. Pediatr Neurol. 48(4):333–4.CrossRefGoogle ScholarPubMed
Roos, R.A. (2010). Huntington’s disease: A clinical review. Orphanet J Rare Dis. 5:40.CrossRefGoogle ScholarPubMed

Bibliography

Chan, K.Y., Ching, C.K., Mak, C.M., et al. (2009). Hereditary spastic paraplegia: Identification of an SPG3A gene mutation in a Chinese family. Hong Kong Med J. 15(4):304–7.Google Scholar
de Souza, P.V., de Rezende Pinto, W.B., de Rezende Batistella, G.N., et al. (2016) Hereditary spastic paraplegia: Clinical and genetic hallmarks. Cerebellum. Jun 7.CrossRefGoogle Scholar

Bibliography

Andrade, D.M., Paton, T., Turnbull, J., et al. (2012). Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy. Pediatr Neurol. 47(3):205–8.CrossRefGoogle ScholarPubMed
Arsov, T., Smith, K.R., Damiano, J., et al. (2011). Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. Am J Hum Genet. 88(5):566–73.CrossRefGoogle ScholarPubMed

Bibliography

Belzil, V.V., Langlais, J.S., Daoud, H., et al. (2012). Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis. Arch Neurol. 69(5):653–6.Google Scholar
Finsterer, J., Burgunder, J.M. (2014). Recent progress in the genetics of motor neuron disease. Eur J Med Genet. 57(2–3):103–12.CrossRefGoogle ScholarPubMed
Sharma, A., Lyashchenko, A.K., L. L., et al. (2016). ALS-associated mutant FUS induces selective motor neuron degeneration through toxic gain of function. Nat Commun. 7:10465.CrossRefGoogle ScholarPubMed

Bibliography

Kalia, L.V., Lang, A.E. (2016). Parkinson disease in 2015: Evolving basic, pathological and clinical concepts in PD. Nat Rev Neurol. 12(2):65–6.CrossRefGoogle ScholarPubMed
Malakouti-Nejad, M., Shahidi, G.A., Rohani, M., et al. (2014). Identification of p.Gln858* in ATP13A2 in two EOPD patients and presentation of their clinical features. Neurosci Lett. 577:106–11.CrossRefGoogle ScholarPubMed

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

  • Adolescent Disorders
  • Juan M. Pascual, University of Texas Southwestern Medical Center, Dallas
  • Book: Progressive Brain Disorders in Childhood
  • Online publication: 28 April 2017
Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

  • Adolescent Disorders
  • Juan M. Pascual, University of Texas Southwestern Medical Center, Dallas
  • Book: Progressive Brain Disorders in Childhood
  • Online publication: 28 April 2017
Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

  • Adolescent Disorders
  • Juan M. Pascual, University of Texas Southwestern Medical Center, Dallas
  • Book: Progressive Brain Disorders in Childhood
  • Online publication: 28 April 2017
Available formats
×