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 …

Diffusion tensor imaging in SPG11- and SPG4-linked hereditary spastic paraplegia

F Garaci, N Toschi, S Lanzafame… - International Journal …, 2014 - Taylor & Francis
The aim of this study was to identify potential diagnostic markers of Hereditary Spastic
Paraplegia (HSP). We investigated the white matter features of spastic gait (SPG) 11-and …

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 …

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 …

Resting state fMRI studies in SPG4-linked hereditary spastic paraplegia

X Liao, M Huang, W Xing, X Wu, W Liao, X Wang… - Journal of the …, 2018 - Elsevier
Objective The study aimed to investigate the functional alterations of spontaneous brain
activity in patients with spastic paraplegia type 4 (SPG4), and the relationship with the …

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 …

[HTML][HTML] SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage

I Faber, ARM Martinez, TJR de Rezende… - NeuroImage: Clinical, 2018 - Elsevier
SPG11 mutations are the major cause of autosomal recessive Hereditary Spastic
Paraplegia. The disease has a wide phenotypic variability indicating many regions of the …

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 …

Multimodal MRI longitudinal assessment of white and gray matter in different SPG types of hereditary spastic paraparesis

D Montanaro, M Vavla, F Frijia… - Frontiers in …, 2020 - frontiersin.org
Hereditary spastic paraplegias (HSP) are a group of genetically and clinically
heterogeneous neurologic disorders. Hereby we describe a relatively large group of patients …

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 …