[HTML][HTML] Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms

TL Giudice, F Lombardi, FM Santorelli, T Kawarai… - Experimental …, 2014 - Elsevier
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous
neurological disorders characterized by pathophysiologic hallmark of length-dependent …

[HTML][HTML] Neuroimaging in hereditary spastic paraplegias: current use and future perspectives

FF Da Graca, TJR De Rezende… - Frontiers in …, 2019 - frontiersin.org
Hereditary spastic paraplegias (HSP) are a large group of genetic diseases characterized by
progressive degeneration of the long tracts of the spinal cord, namely the corticospinal tracts …

[HTML][HTML] Frontotemporal pathology in motor neuron disease phenotypes: insights from neuroimaging

MC McKenna, P Corcia, P Couratier, WF Siah… - Frontiers in …, 2021 - frontiersin.org
Frontotemporal involvement has been extensively investigated in amyotrophic lateral
sclerosis (ALS) but remains relatively poorly characterized in other motor neuron disease …

[HTML][HTML] Hereditary spastic paraplegia: from genes, cells and networks to novel pathways for drug discovery

A Mackay-Sim - Brain Sciences, 2021 - mdpi.com
Hereditary spastic paraplegia (HSP) is a diverse group of Mendelian genetic disorders
affecting the upper motor neurons, specifically degeneration of their distal axons in the …

Brain damage and gene expression across hereditary spastic paraplegia subtypes

KR Servelhere, TJR Rezende, FD de Lima… - Movement …, 2021 - Wiley Online Library
Background Spinal cord has been considered the main target of damage in hereditary
spastic paraplegias (HSPs), but mounting evidence indicates that the brain is also affected …

[HTML][HTML] 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 …

[HTML][HTML] Clinical and paraclinical indicators of motor system impairment in hereditary spastic paraplegia: a pilot study

A Martinuzzi, D Montanaro, M Vavla, G Paparella… - PLoS …, 2016 - journals.plos.org
Background Hereditary spastic paraplegias (HSP) are a composite and genetically
heterogeneous group of conditions mainly expressed by the impairment of the central motor …

Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis

JD Weisfeld-Adams, IB Katz Sand, JM Honce… - Brain, 2015 - academic.oup.com
Several single gene disorders share clinical and radiologic characteristics with multiple
sclerosis and have the potential to be overlooked in the differential diagnostic evaluation of …

Neuroimaging in hereditary spastic paraplegias: from qualitative cues to precision biomarkers

G Mulkerrin, MC França Jr, J Lope… - Expert review of …, 2022 - Taylor & Francis
Introduction Hereditary spastic paraplegias (HSP) include a clinically and genetically
heterogeneous group of conditions. Novel imaging modalities have been increasingly …

[HTML][HTML] Case report: High-frequency repetitive transcranial magnetic stimulation for treatment of hereditary spastic paraplegia type 11

S Chen, Z Zhou, M Ren, X Chen, X Shi, S Zhang… - Frontiers in …, 2023 - frontiersin.org
Hereditary spastic paraplegia (HSP) is a heterogeneous group of inherited
neurodegenerative disorders that currently have no cure. HSP type 11 (SPG11-HSP) is a …