HIGHLIGHTS
- who: Cerebral Hypomyelination and collaborators from the (UNIVERSITY) have published the article: GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination, in the Journal: (JOURNAL)
SUMMARY
To understand the pathophysiology underlying neurologic deficits in oculodentodigital dysplasia, the authors studied 8 consecutive patients presenting with hereditary spastic paraplegia due to GJA1 variants. This study suggests that GJA1-related hereditary spastic paraplegia is a complex neurodegenerative disease affecting both the myelin and the basal ganglia. GJA1 variants should be considered in patients with hereditary spastic paraplegia presenting with brain hypomyelination, especially if associated with neurodegeneration . . .
If you want to have access to all the content you need to log in!
Thanks :)
If you don't have an account, you can create one here.