POLG gene mutation. Clinico-neuropathological study.
Folia Neuropathol
; 58(4): 386-392, 2020.
Article
de En
| MEDLINE
| ID: mdl-33480243
ABSTRACT
We present a female patient with a mutation of the POLG gene (POLG DNA polymerase gamma, catalytic subunit; *174763) in which the clinical course suggested a mitochondrial disease, a neuropathological examination identified the syndrome more closely, and a genetic test confirmed the disease. Apart from the morphological lesions typical of Alpers-Huttenlocher syndrome, rarely observed symmetrical degenerative changes in the accessory olivary nuclei were found. It was unusual in the clinical course of the disease that pancreatitis was diagnosed before symptoms of liver failure appeared.
Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Sclérose cérébrale diffuse de Schilder
/
DNA Polymerase gamma
Type d'étude:
Prognostic_studies
Limites:
Child
/
Female
/
Humans
Langue:
En
Journal:
Folia Neuropathol
Sujet du journal:
NEUROLOGIA
/
PATOLOGIA
Année:
2020
Type de document:
Article
Pays d'affiliation:
Pologne