A compound heterozygous ALPL variant in a patient with dystonia-parkinsonism and hypointensity in basal ganglia: A case report

•A patient with compound heterozygous ALPL variants shows dystonia-parkinsonism and hypointensity in basal ganglia.•Two pathogenic variants of ALPL, c.407G>A (p.Arg136His) and c.532T>C (Tyr178His), are identified.•Variants in ALPL gene might cause iron deposition through affecting iron metabol...

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Bibliographic Details
Published in:Parkinsonism & related disorders 2020-09, Vol.78, p.184-185
Main Authors: Li, Xin-yao, Wan, Xin-hua, Chen, Lin, Guo, Wei-hong, Wang, Lin
Format: Article
Language:English
Subjects:
ALPL
Dystonia
Hypophosphatasia (HPP)
Magnetic resonance imaging (MRI)
Parkinsonism
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Summary:•A patient with compound heterozygous ALPL variants shows dystonia-parkinsonism and hypointensity in basal ganglia.•Two pathogenic variants of ALPL, c.407G>A (p.Arg136His) and c.532T>C (Tyr178His), are identified.•Variants in ALPL gene might cause iron deposition through affecting iron metabolism and blood–brain barrier integrity.
ISSN:1353-8020
1873-5126
DOI:10.1016/j.parkreldis.2020.07.027