Analysis of clinical characteristics of 7 cases of hereditary spastic paraplegia with skeletal deformities
10.3969/j.issn.1004-1648.2025.03.008
- VernacularTitle:遗传性痉挛性截瘫伴骨骼畸形7例临床特点分析
- Author:
Lin LEI
1
;
Hui DU
;
Qin LIAO
Author Information
1. 100035 首都医科大学附属北京积水潭医院神经内科
- Publication Type:Journal Article
- Keywords:
hereditary spastic paralegia;
skeletal deformities;
pes cavus
- From:
Journal of Clinical Neurology
2025;38(3):199-202
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the clinical,genetic characteristics,and the pathogenesis of hereditary spastic paralegia(HSP)with skeletal deformities.Methods The clinical manifestations and genetic results of 7 HSP patients with skeletal deformities were analyzed,and the related literatures were reviewed.Results There were 5 males and 2 females in 7 cases,with an average age of onset of 1-43 years old.Five cases were early-onset HSP and 2 cases were late-onset HSP.All 7 patients had foot deformity,and with pes cavus,of which 3 cases had hammer toes.Both patients had hallux valgus and one had strephenopodia.Besides,hip abnormalities were noted in two patients,and scoliosis was observed in one case.Knee valgus was noted in one patient.Genetic testing showed that three cases were SPG4 type,which were SPAST c.1634C＞T missense mutation,SPAST c.714dup duplication mutation and SPAST c.886_889del deletion mutation,respectively;one case was SPG5A type,which carried compound heterozygous mutation of CYP7B1 c.260G＞A and c.1229C＞T;One patient was SPG6 type,carrying a heterozygous mutation in NIPA1 c.316G＞A.No known pathogenic mutations associated with HSP were found in 2 patients.Conclusions Skeletal deformity is one of the complications of HSP,with pes cavus being the most common foot deformity.Pes cavus may be associated with muscle imbalance due to spastic paralysis of the lower limbs.The earlier the age of onset,the more likely pes cavus may occur.Hip abnormalities may be another manifestation of skeletal involvement in HSP patients with SPG5A type.
