These results demonstrate that mutations in FA2H are associated with SPG35, and that abnormal hydroxylation of myelin galactocerebroside lipid components can lead to a severe progressive phenotype, with a clinical presentation of complicated HSP and radiological features of leukodystrophy.(c) 2010 Wiley-Liss, Inc.
C3496228
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia