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

Parkinsonism Relat Disord. 2020 Sep:78:184-185. doi: 10.1016/j.parkreldis.2020.07.027. Epub 2020 Aug 12.

Authors

Xin-Yao Li¹, Xin-Hua Wan¹, Lin Chen¹, Wei-Hong Guo², Lin Wang³

Affiliations

¹ Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, China.
² Department of Vasculocardiology, Fuwai Hospital, Chinese Academy of Medical Sciences, 100037, China.
³ Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, China. Electronic address: [email protected].

PMID: 32956941
DOI: 10.1016/j.parkreldis.2020.07.027

No abstract available

Keywords: ALPL; Dystonia; Hypophosphatasia (HPP); Magnetic resonance imaging (MRI); Parkinsonism.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Alkaline Phosphatase / genetics*
Basal Ganglia / diagnostic imaging
Basal Ganglia / pathology*
Dystonic Disorders* / diagnosis
Dystonic Disorders* / genetics
Dystonic Disorders* / pathology
Dystonic Disorders* / physiopathology
Humans
Hypophosphatasia* / diagnosis
Hypophosphatasia* / genetics
Iron Metabolism Disorders* / diagnosis
Iron Metabolism Disorders* / genetics
Iron Metabolism Disorders* / pathology
Iron Metabolism Disorders* / physiopathology
Magnetic Resonance Imaging
Male
Neuroaxonal Dystrophies* / diagnosis
Neuroaxonal Dystrophies* / genetics
Neuroaxonal Dystrophies* / pathology
Neuroaxonal Dystrophies* / physiopathology
Parkinsonian Disorders* / diagnosis
Parkinsonian Disorders* / genetics
Parkinsonian Disorders* / pathology
Parkinsonian Disorders* / physiopathology

Substances

ALPL protein, human
Alkaline Phosphatase

Supplementary concepts

Neurodegeneration with brain iron accumulation (NBIA)