Jump to content
Main menu
Main menu
move to sidebar
hide
Navigation
Main page
Recent changes
Random page
Help about MediaWiki
Special pages
Niidae Wiki
Search
Search
Appearance
Create account
Log in
Personal tools
Create account
Log in
Pages for logged out editors
learn more
Contributions
Talk
Editing
Pelizaeus–Merzbacher disease
(section)
Page
Discussion
English
Read
Edit
View history
Tools
Tools
move to sidebar
hide
Actions
Read
Edit
View history
General
What links here
Related changes
Page information
Appearance
move to sidebar
hide
Warning:
You are not logged in. Your IP address will be publicly visible if you make any edits. If you
log in
or
create an account
, your edits will be attributed to your username, along with other benefits.
Anti-spam check. Do
not
fill this in!
==Diagnosis== The diagnosis of Pelizaeus–Merzbacher disease is often first suggested after identification by [[magnetic resonance imaging]] of abnormal white matter (high T2 signal intensity, i.e. T2 lengthening) throughout the brain, which is typically evident by about 1 year of age, but more subtle abnormalities should be evident during infancy. Unless a family history consistent with [[sex-linked]] inheritance exists, the condition is often misdiagnosed as cerebral palsy. Once a ''PLP1'' mutation is identified, [[prenatal diagnosis]] or preimplantation genetic diagnostic testing is possible.{{citation needed|date=September 2020}} ===Classification=== The disease is one in a group of [[genetic disorder]]s collectively known as [[leukodystrophies]] that affect the growth of the [[myelin]] sheath, the fatty covering—which acts as an insulator—on [[nerve fiber]]s in the [[central nervous system]]. The several forms of Pelizaeus–Merzbacher disease include classic, congenital, transitional, and adult variants.<ref>{{Cite web|title=Pelizaeus-Merzbacher disease (Concept Id: C0205711) - MedGen - NCBI|url=https://www.ncbi.nlm.nih.gov/medgen/61440|access-date=2021-03-03|website=www.ncbi.nlm.nih.gov|language=en}}</ref> Pelizaeus–Merzbacher disease is the common name for hypomyelinating leukodystrophies (HLD).<ref>{{cite journal |last1=Wolf |first1=Nicole |last2=Ffrench-Constant |first2=Charles |last3=van der Knaap |first3=Marjo |title=Hypomyelinating leukodystrophies — unravelling myelin biology |journal=Nat Rev Neurol |date=2021 |volume=17 |issue=2 |pages=88–103 |doi=10.1038/s41582-020-00432-1 |pmid=33324001 |s2cid=229182946 |url=https://www.nature.com/articles/s41582-020-00432-1}}</ref> There are at least 26 HLD variants cataloged by the National Institutes of Health National Library of Medicine<ref>{{cite web |title=National Library of Medicine |url=https://www.ncbi.nlm.nih.gov/medgen/?term=hld |publisher=National Institutes of Health |access-date=7 March 2024}}</ref> and the Online Mendelian Inheritance in Man (OMIM) compendium of human genes and genetic phenotypes.<ref>{{cite web |title=Online Mendelian Inheritance in Man |url=https://www.omim.org/search?index=entry&start=1&limit=10&sort=score+desc%2C+prefix_sort+desc&search=hld |publisher=Johns Hopkins University}}</ref> Milder mutations of the ''PLP1'' gene that mainly cause leg weakness and spasticity, with little or no cerebral involvement, are classified as spastic paraplegia 2 (SPG2).{{citation needed|date=September 2020}}
Summary:
Please note that all contributions to Niidae Wiki may be edited, altered, or removed by other contributors. If you do not want your writing to be edited mercilessly, then do not submit it here.
You are also promising us that you wrote this yourself, or copied it from a public domain or similar free resource (see
Encyclopedia:Copyrights
for details).
Do not submit copyrighted work without permission!
Cancel
Editing help
(opens in new window)
Search
Search
Editing
Pelizaeus–Merzbacher disease
(section)
Add topic