A case of atypical pantothenate kinase-associated neurodegeneration with parkinsonism as the initial manifestations
10.3760/cma.j.cn113694-20250427-00245
- VernacularTitle:以帕金森样症状为首发表现的非典型泛酸激酶相关性神经变性病1例
- Author:
Ningning MEI
1
;
Hong JIANG
1
;
Lulu ZHENG
1
;
Yan CUI
1
;
Lei LI
1
;
Xinying TIAN
1
Author Information
1. 临床神经病学教育部重点实验室 河北医科大学第二医院神经内科 河北省神经病学重点实验室，石家庄 050000
- Publication Type:Journal Article
- Keywords:
Pantothenate kinase-associated neurodegeneration;
Neurodegeneration with brain iron accumulation type 1;
Eye of the tiger;
PANK2 gene mutation
- From:
Chinese Journal of Neurology
2025;58(11):1216-1220
- CountryChina
- Language:Chinese
-
Abstract:
This article reports a rare case of pantothenate kinase-associated neurodegeneration: the patient′s initial symptoms were Parkinson-like symptoms such as tremor and bradykinesia, as well as dysarthria. Brain magnetic resonance imaging showed abnormal signals in the bilateral basal ganglia region similar to the tiger′s eye sign. Two heterozygous mutations including c.803A>G(p.Asp268Gly) and c.1021C>T(p.Arg341 *) were found in the pantothenate kinase 2 gene by whole exome sequencing, and the final diagnosis was neurodegeneration with brain iron accumulation type 1, also known as pantothenate kinase-associated neurodegeneration. By reviewing the clinical characteristics, diagnostic approaches and therapeutic strategies, this article aims to enhance the recognition of this disease, avoid misdiagnosis and missed diagnosis, and provide guidance for clinical diagnosis and treatment.
