Phenotypic and genotypic features of twenty children with classic pantothenate kinase-associated neurodegeneration
10.3760/cma.j.issn.0578-1310.2017.09.011
- VernacularTitle: 20例经典型泛酸激酶相关神经变性的临床表型和基因型特点
- Author:
Ji ZHOU
1
;
Jing HE
;
Liping KOU
;
Hongchun FENG
;
Yanhua DENG
;
Zhongbin ZHANG
;
Ling ZHOU
;
Jingmin WANG
;
Yuwu JIANG
;
Ye WU
Author Information
1. Department of Pediatrics, Peking University First Hospital, Beijing 100034, China
- Publication Type:Clinical Trail
- Keywords:
Pantothenate kinase-associated neurodegeneration;
Genotype;
Genes, PANK2
- From:
Chinese Journal of Pediatrics
2017;55(9):678-682
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the phenotypic and genotypic characteristics in Chinese children with classic pantothenate kinase-associated neurodegeneration (PKAN).
Method:The clinical, radiographic and genetic data of all PKAN patients diagnosed at pediatric department of Peking University First Hospital from November 2006 to December 2016 were retrospectively collected and analyzed.
Result:Twenty patients with classic PKAN were included in the study. The median age at onset was 3.5 years (ranging from 1.0 to 10.0 years), and the most common initial symptom was gait disturbance (16 cases). At the last evaluation, the clinical features were limbs dystonia (20 cases), dysarthria (16 cases), dysphagia (11 cases), pyramidal sign (7 cases), mental regression (3 cases) and pigmentary retinopathy (5 cases). For those classic PKAN patients, the median time from onset of disease to loss of independent ambulation was 6.9 years (ranging from 2.0 to 12.0 years). Imaging data showed, except "eye of tiger" in MRI (19 cases), globus pallidus calcification in CT was also found in four patients. In gene testing, 26 different mutations in PANK2 gene were identified, and 16 of 26 were novel mutations. Moreover, c. 1502T>C (p.Ile501Asn) was the most common mutation (4 cases).
Conclusion:Dystonia is the major neurologic feature of classic PKAN. Disease progression is rapid, with loss of independent ambulation within 10 years after onset. Except "eye of tiger" in MRI, globus pallidus calcification in CT may be another imaging feature of PKAN.Sixteen novel mutations of PANK2 gene were identified in the study.
