Cortical Damage Associated With Cognitive and Motor Impairment in Hereditary Spastic Paraplegia: Evidence of a Novel SPAST Mutation

J Lin, H Zheng, Q Ma, C Wang, L Fan, H Wu… - Frontiers in …, 2020 - frontiersin.org
To determine the cortical mechanism that underlies the cognitive impairment and motor
disability in hereditary spastic paraplegia (HSP), nine HSP patients from a Chinese family …

Corticospinal tract and motor cortex degeneration in pure hereditary spastic paraparesis type 4 (SPG4)

FJ Navas-Sánchez, D Martin De Blas… - … Lateral Sclerosis and …, 2022 - Taylor & Francis
Objective: SPG4 is an autosomal dominant pure form of hereditary spastic paraplegia (HSP)
caused by mutations in the SPAST gene. HSP is considered an upper motor neuron …

Gray and white matter alterations in hereditary spastic paraplegia type SPG4 and clinical correlations

T Lindig, B Bender, TK Hauser, S Mang… - Journal of …, 2015 - Springer
Hereditary spastic paraplegias (HSP) are a group of clinically and genetically
heterogeneous disorders with the hallmark of progressive spastic gait disturbance. We used …

Reduced regional cerebral blood flow in SPG4-linked hereditary spastic paraplegia

KH Scheuer, JE Nielsen, K Krabbe, C Simonsen… - Journal of the …, 2005 - Elsevier
Hereditary spastic paraplegia (HSP) linked to the spastic gait gene 4 (SPG4) is
controversial, as the “pure” form traditionally has been considered confined to the long …

Clinical analysis in patients with SPG11 hereditary spastic paraplegia

YR Kang, TS Nam, JM Kim, KW Kang, SM Choi… - Frontiers in …, 2023 - frontiersin.org
Background To analyze the clinical phenotype of hereditary spastic paraplegia (HSP)
caused by SPG11 mutations (SPG11-HSP). Methods Among the 17 patients with sporadic …

Neuropsychology and MRI correlates of neurodegeneration in SPG11 hereditary spastic paraplegia

KS Utz, Z Kohl, DC Marterstock, A Doerfler… - Orphanet Journal of …, 2022 - Springer
Background SPG11-linked hereditary spastic paraplegia is characterized by multisystem
neurodegeneration leading to a complex clinical and yet incurable phenotype of progressive …

Multimodal MRI-Based Study in Patients with SPG4 Mutations

TJR Rezende, M de Albuquerque, GM Lamas… - PLoS …, 2015 - journals.plos.org
Mutations in the SPG4 gene (SPG4-HSP) are the most frequent cause of hereditary spastic
paraplegia, but the extent of the neurodegeneration related to the disease is not yet known …

A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation

T Warnecke, T Duning, A Schwan, H Lohmann… - Neurology, 2007 - AAN Enterprises
Background: Hereditary spastic paraplegia (HSP) is a clinically and genetically
heterogeneous neurodegenerative disorder characterized by progressive spastic …

Novel SPG11 mutations in Chinese families with hereditary spastic paraplegia with thin corpus callosum

L Cao, TY Rong, XJ Huang, R Fang, ZY Wu… - Parkinsonism & related …, 2013 - Elsevier
BACKGROUND: Hereditary spastic paraplegia is a clinically and genetically heterogeneous
neurodegenerative disorder characterized by progressive spasticity of the lower limbs …

Clinical and genetic characteristics in a Chinese cohort of complex spastic paraplegia type 4

L Yao, Y Cao, C Zhang, X Huang, W Tian… - Clinical …, 2024 - Wiley Online Library
Abstract Spastic paraplegia type 4 (SPG4), caused by SPAST mutations, is the most
predominant subtype of hereditary spastic paraplegia. Most documented SPG4 patients …