A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4

A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4

Ataxia with oculomotor apraxia (AOA) is a clinical syndrome featuring a group of genetic diseases including at least four separate autosomal-recessive cerebellar ataxias. All these disorders are due to altered genes involved in DNA repair. AOA type 4 (AOA4) is caused by mutations in DNA repair facto...

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Bibliographic Details
Main Authors: Rosa Campopiano, Rosangela Ferese, Fabio Buttari, Cinzia Femiano, Diego Centonze, Francesco Fornai, Francesca Biagioni, Maria Antonietta Chiaravalloti, Mauro Magnani, Emiliano Giardina, Anna Ruzzo, Stefano Gambardella
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-01-01
Series:Frontiers in Neurology
Subjects:
ataxia with oculomotor apraxia
PNKP gene
clinical exome
late onset
neurogenetics
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2019.01331/full

Internet

https://www.frontiersin.org/article/10.3389/fneur.2019.01331/full

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