Case report: Novel compound heterozygous variants in the PANK2 gene in a Chinese patient diagnosed with ASD and ADHD

Case report: Novel compound heterozygous variants in the PANK2 gene in a Chinese patient diagnosed with ASD and ADHD

The PANK2 gene, which encodes mitochondrial pantothenate kinase 2 protein, is the disease-causing gene for pantothenate kinase-associated neurodegeneration (PKAN). We report a case of atypical PKAN with autism-like symptoms presenting with speech difficulties, psychiatric symptoms, and mild developm...

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Bibliographic Details
Main Authors: Siqi Dong, Ya Tuo, Zihan Qi, Yuanfeng Zhang, Xiaoni Liu, Ping Huang, Xiangjun Chen
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-04-01
Series:Frontiers in Neurology
Subjects:
PANK2 mutation
pantothenate kinase-associated neurodegeneration (PKAN)
atypical PKAN
case report
autism spectral disorder (ASD)
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1118076/full

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https://www.frontiersin.org/articles/10.3389/fneur.2023.1118076/full

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