Clinical analysis in patients with SPG11 hereditary spastic paraplegia

• DOI: 10.3389/fneur.2023.1198728
• Publication Date: 2023-06-15T05:42:04Z
• Authors: You-Ri Kang; Tai-Seung Nam; Jae-Myung Kim; Kyung Wook Kang; Seong-Min Choi; Seung-Han Lee; Byeong C. Kim; Myeong-Kyu Kim
• Keywords: Hereditary Spastic Paraplegia; Berg Balance Scale

To analyze the clinical phenotype of hereditary spastic paraplegia (HSP) caused by SPG11 mutations (SPG11-HSP).Among 17 patients with sporadic HSP who performed whole exome sequencing analysis, six were diagnosed SPG11-HSP. The and radiologic findings results electrodiagnostic neuropsychologic tests reviewed retrospectively.The median age at onset was 16.5 years (range, 13-38 years). Progressive paraparesis a core feature, rating scale score 24/52 16-31 points). Additional major symptoms pseudobulbar dysarthria, intellectual disability, bladder dysfunction, being overweight. Minor included upper limbs rigidity sensory axonopathy. body mass index 26.2 kg/m2 25.2-32.3 kg/m2). thin corpus callosum (TCC) predominant rostral or anterior midbody, ears lynx sign seen in all. follow-up MRI showed worsening periventricular white matter (PVWM) signal abnormalities ventricular widening extension TCC. Motor evoked potentials (MEP) to lower an absent central motor conduction time (CMCT) all subjects. limb CMCT initially three subjects, although it became abnormal follow-up. mini-mental state examination 27/30 26-28) selective impairment attention/calculation domain. full-scale intelligence quotient 48 42-72) on Wechsler Adult Intelligence Scale test.Attention/calculation deficits overweight as well dysarthria common additional midbody preferentially thinned, especially early stage disease. TCC, PVWM changes, MEP abnormality worsened disease progressed.