First report of the neuropathological findings in a patient with leukodystrophy and compound heterozygous variants in the PIGT gene

Neuropathol Appl Neurobiol. 2019 Dec;45(7):732-735. doi: 10.1111/nan.12557. Epub 2019 Jun 10.

Authors

K B Larsen^{1

2}, A Bayat^{3

4}, R S Møller^{4

5}, L L Maroun¹, E L Lund¹

Affiliations

¹ Department of Pathology, University Hospital of Copenhagen, Rigshospitalet, Denmark.
² Department of Neuropathology and Ocular Pathology, John Radcliffe Hospital, Oxford University Hospital, Oxford, UK.
³ Department of Pediatrics, University Hospital of Copenhagen, Rigshospitalet, Denmark.
⁴ Danish Epilepsy Centre, Dianalund, Denmark.
⁵ Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.

PMID: 31021413
DOI: 10.1111/nan.12557

No abstract available

Publication types

Case Reports

MeSH terms

Acyltransferases / genetics*
Brain / pathology*
Fatal Outcome
Humans
Infant
Leukoencephalopathies / genetics
Leukoencephalopathies / pathology*
Male
Mutation
White Matter / pathology*

Substances

Acyltransferases
COOH-terminal signal transamidase

Associated data

GENBANK/NM_015937