Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-848d4c4894-nr4z6 Total loading time: 0 Render date: 2024-05-15T22:03:47.802Z Has data issue: false hasContentIssue false

Chapter 7 - Neurology – the Central Nervous System

from Section 2 - Systems Involved in Mitochondrial Diseases

Published online by Cambridge University Press:  28 April 2018

By
Michael J. Keogh ,
Hannah E. Steele  and
Patrick F. Chinnery
Edited by
Patrick F. Chinnery  and
Michael J. Keogh
Patrick F. Chinnery
Affiliation:
University of Cambridge
Michael J. Keogh
Affiliation:
University of Newcastle upon Tyne
Get access

Summary

A summary is not available for this content so a preview has been provided. Please use the Get access link above for information on how to access this content.
Image of the first page of this content. For PDF version, please use the ‘Save PDF’ preceeding this image.'
Type
Chapter
Information
Clinical Mitochondrial Medicine , pp. 69 - 83
Publisher: Cambridge University Press
Print publication year: 2018

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

Nesbitt, V, Pitceathly, RD, Turnbull, DM, et al. The UK MRC Mitochondrial Disease Patient Cohort Study: Clinical phenotypes associated with the m.3243A>G mutation – implications for diagnosis and management. J Neurol Neurosurg Psychiatry 2013; 84(8): 936–938.CrossRefGoogle ScholarPubMed
Halter, JP, Michael, W, Schupbach, M, et al. Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy. Brain 2015.CrossRefGoogle ScholarPubMed
Uziel, G, Moroni, I, Lamantea, E, et al. Mitochondrial disease associated with the T8993 G mutation of the mitochondrial ATPase 6 gene: A clinical, biochemical, and molecular study in six families. J Neurol Neurosurg Psychiatry 1997; 63(1): 16–22.CrossRefGoogle Scholar
Horvath, R, Hudson, G, Ferrari, G, et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 2006; 129(Pt. 7): 1674–1684.Google Scholar
Tzoulis, C, Engelsen, BA, Telstad, W, et al. The spectrum of clinical disease caused by the A467 T and W748S POLG mutations: A study of 26 cases. Brain 2006.CrossRefGoogle Scholar
Pfeffer, G, Gorman, GS, Griffin, H, et al. Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. Brain 2014; 137(Pt. 5): 1323–1336.Google Scholar
Bricout, M, Grevent, D, Lebre, AS, et al. Brain imaging in mitochondrial respiratory chain deficiency: Combination of brain MRI features as a useful tool for genotype/phenotype correlations. J Med Genet 2014; 51(7): 429–435.Google Scholar
Pfeffer, G, Horvath, R, Klopstock, T, et al. New treatments for mitochondrial disease – no time to drop our standards. Nature Reviews Neurology 2013; 9(8): 474–481.Google Scholar
Koga, Y, Akita, Y, Nishioka, J, et al. L-arginine improves the symptoms of strokelike episodes in MELAS. Neurology 2005; 64(4): 710–712.Google Scholar

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.

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.

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.

Available formats
×