TY - CHAP
T1 - Leukodystrophies
AU - Perlman, Seth J.
AU - Mar, Soe
PY - 2012/4/19
Y1 - 2012/4/19
N2 - Leukodystrophies comprise a broad group of progressive, inherited disorders affecting mainly myelin. They often present after a variable period of normalcy with a variety of neurologic problems. Though the ultimate diagnosis is not found in many patients with leukodystrophies, distinctive features unique to them aid in diagnosis, treatment and prognostication. The clinical characteristics, etiologies, diagnostic testing and treatment options are reviewed in detail for some of the major leukodystrophies: X-linked adrenoleukodystrophy, Krabbe disease, metachromatic leukodystrophy, Pelizaeus-Merzbacher disease, Alexander disease, Canavan disease, megalencephalic leukoencephalopathy with subcortical cysts and vanishing white matter disease.
AB - Leukodystrophies comprise a broad group of progressive, inherited disorders affecting mainly myelin. They often present after a variable period of normalcy with a variety of neurologic problems. Though the ultimate diagnosis is not found in many patients with leukodystrophies, distinctive features unique to them aid in diagnosis, treatment and prognostication. The clinical characteristics, etiologies, diagnostic testing and treatment options are reviewed in detail for some of the major leukodystrophies: X-linked adrenoleukodystrophy, Krabbe disease, metachromatic leukodystrophy, Pelizaeus-Merzbacher disease, Alexander disease, Canavan disease, megalencephalic leukoencephalopathy with subcortical cysts and vanishing white matter disease.
UR - http://www.scopus.com/inward/record.url?scp=84859507077&partnerID=8YFLogxK
U2 - 10.1007/978-1-4614-0653-2_13
DO - 10.1007/978-1-4614-0653-2_13
M3 - Chapter
C2 - 22411242
AN - SCOPUS:84859507077
SN - 9781461406525
T3 - Advances in Experimental Medicine and Biology
SP - 154
EP - 171
BT - Neurodegenerative Diseases
ER -