Early-onset Parkinson's disease with mutations in both the PRKN gene and the APOB gene:A case report
10.11817/j.issn.1672-7347.2024.230438
- VernacularTitle:PRKN基因合并APOB基因突变的早发型帕金森病1例
- Author:
Shijia BING
1
;
Xia YI
;
Xiangqi TANG
Author Information
1. 中南大学湘雅二医院神经内科,长沙 410011
- Keywords:
early-onset Parkinson's disease;
limb tremors;
PRKN gene;
APOB gene
- From:
Journal of Central South University(Medical Sciences)
2024;49(4):637-642
- CountryChina
- Language:Chinese
-
Abstract:
The incidence rate of Parkinson's disease ranks the second among degenerative diseases of the nervous system,only lower than Alzheimer's disease.Early-onset Parkinson's disease(EPOD)refers to Parkinson's disease with initial symptoms appearing before the age of 50.EOPD is associated with certain genetic mutations and has distinct clinical features.This study reports a case of EOPD with mutations in both the PRKN and the APOB genes.The patient presented with the initial symptom of unstable walking at the age of 28,followed by bradykinesia,limb tremors,masked face,shuffling gait,and cogwheel rigidity in both upper limbs.The blood lipid test showed total cholesterol of 6.48 mmol/L and low-density lipoprotein cholesterol of 4.13 mmol/L.Genetic testing showed a deletion in exon 5 and a point mutation[c.850G＞C(p.Gly284Arg)]in exon 7 of the PRKN gene,as well as a point mutation[c.10579C＞T(p.Arg3527Trp)]in exon 26 of the APOB gene.Based on these clinical manifestations and examination results,the patient was diagnosed with EOPD.The compound heterozygous mutations in the PRKN gene,as well as the combined mutations in the PRKN and APOB genes,are both reported for the first time,expanding the spectrum of genetic mutations associated with EOPD.
