Progressive cavitating leukoencephalopathy associated with a homozygous POLG mutation of 264C>G (p.F88L)
Progressive cavitating leukoencephalopathy is a childhood neurodegenerative syndrome characterized by brain MR imaging findings of patchy leukoencephalopathy with cavities and vascular permeability, initially affecting the corpus callosum and centrum semiovale, and eventually coalescing into large c...
Main Authors: | Austin Shinagawa, BS, Stephen Hugdal, MD, Jay Babu, Rajesh Rangaswamy, MD |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2020-07-01
|
Series: | Radiology Case Reports |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043320301485 |
Similar Items
-
A new pathogenic POLG variant
by: S. Nicholas Russo, et al.
Published: (2022-09-01) -
Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome c oxidase deficiency: a case report
by: Alexandra Chapleau, et al.
Published: (2023-08-01) -
Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present
by: Jessica Qiu, et al.
Published: (2021-05-01) -
The Y831C Mutation of the <i>POLG</i> Gene in Dementia
by: Eugenia Borgione, et al.
Published: (2023-04-01) -
Homozygous variant of MLC1 results in megalencephalic leukoencephalopathy with subcortical cysts
by: Jian Zha, et al.
Published: (2024-02-01)