Gene Screening And Clinical Analysis Of 8 Cases Of The Clinically Diagnosed Hereditary Spastic Paraplegia

Objective In order to identify the pathogenic genes of the clinically diagnosed Hereditary Spastic Paraplegia(HSPs)patients in our hospital,summarize their clinical features,and provide basis for diagnosis and differential diagnosis of HSPs.Methods The clinically diagnosed HSPs patients admitted to the General Hospital of Ningxia Medical University from January 2007 to August 2019 were collected as the research objects.Longitudinal gene screening program was used to track and detect the pathogenic gene typing;Carry out pedigree analysis and patient demographic survey;Comprehensive evaluation of patients with hereditary spastic paraplegia from clinical scales,neurological examinations,laboratory examinations,neuroelectrophysiology,ultrasound imaging,etc.Summarize its clinical characteristics and make differential diagnosis combined with the reported literature.Results In this study,three cases of hereditary spastic paraplegia type 11(Spastic Paraplegia 11,SPG11)and one case of hereditary spastic paraplegia type 35(Spastic Paraplegia 35,SPG35)were identified by longitudinal gene screening program,all of which were in accordance with autosomal recessive inheritance.Two patients with spinocerebellar ataxia type 3(Spinocerebellar Ataxia3,SCA3),one patient with amyotrophic lateral sclerosis type 1((Amyotrophic lateral sclerosis1,ALS1)(Uncertain significance)and one patient with type 9 terminal joint contracture(Uncertain significance)were differentiated.In addition to the spastic gait and pyramidal sign in patients with HSPs,patients with SPG11 may have rare muscle rupture,abnormal fatty acid metabolism,extensive neurogenic damage,dysplasia of corpus callosum(thinning)or Cisterna Magna,abnormal high signal intensity in the anteriorhorn of the lateral ventricle similar to “Ears of the Lynx Sign”,multiple disc herniation and risk of fall.Patients with SPG35 may have the risk of fall,metabolic defects of medium-chain fatty acids such as decreased C8/C10,no white matter lesions and iron accumulation in the brain.Conclusion Hereditary spastic paraplegia(HSP)has strong phenotypic overlap with hereditary cerebellar ataxia(HCA)and amyotrophic lateral sclerosis(ALS);Longitudinal gene screening is helpful to the differential diagnosis of HSPs;SPG11,followed by SPG35,are all pathogenic genes of ARHSP.