Match!
Murtadha Al-Saady
Boston Children's Hospital
LeukodystrophyBasal gangliaDystoniaPutamenSuperior cerebellar peduncleChoreic movements
1Publications
0Citations
What is this?
Publications 1
Newest
#1Inga Harting (University Hospital Heidelberg)H-Index: 12
#2Murtadha Al-Saady (Boston Children's Hospital)
Last. Nicole I. Wolf (Boston Children's Hospital)H-Index: 39
view all 17 authors...
Biallelic variants in POLR3A cause 4H leukodystrophy, characterized by hypomyelination in combination with cerebellar and pyramidal signs and variable non-neurological manifestations. Basal ganglia are spared in 4H leukodystrophy, and dystonia is not prominent. Three patients with variants in POLR3A, an atypical presentation with dystonia, and MR involvement of putamen and caudate nucleus (striatum) and red nucleus have previously been reported. Genetic, clinical findings and 18 MRI scans from n...
Source
1