Genotype–phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients

M Erfanian Omidvar, S Torkamandi, S Rezaei… - Journal of …, 2021 - Springer
Aims The hereditary spastic paraplegias (HSPs) are a heterogeneous group of inherited
neurodegenerative disorders. Although, several genotype–phenotype studies have carried …

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 …

Clinical and genetic study of hereditary spastic paraplegia in Canada

N Chrestian, N Dupré, Z Gan-Or, A Szuto… - Neurology …, 2016 - neurology.org
Objective: To describe the clinical, genetic, and epidemiologic features of hereditary spastic
paraplegia (HSP) in Canada and to determine which clinical, radiologic, and genetic factors …

ARL6IP1 gene delivery reduces neuroinflammation and neurodegenerative pathology in hereditary spastic paraplegia model

JH Lim, HM Kang, DH Kim, B Jeong, DY Lee… - Journal of Experimental …, 2023 - rupress.org
ARL6IP1 is implicated in hereditary spastic paraplegia (HSP), but the specific pathogenic
mechanism leading to neurodegeneration has not been elucidated. Here, we clarified the …

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 …

Janus-faced spatacsin (SPG11): involvement in neurodevelopment and multisystem neurodegeneration

T Pozner, M Regensburger, T Engelhorn, J Winkler… - Brain, 2020 - academic.oup.com
Hereditary spastic paraplegia (HSP) is a heterogeneous group of rare motor neuron
disorders characterized by progressive weakness and spasticity of the lower limbs. HSP …

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] Liver-X-receptor agonists rescue axonal degeneration in SPG11-deficient neurons via regulating cholesterol trafficking

E Chai, Z Chen, Y Mou, G Thakur, W Zhan, XJ Li - Neurobiology of disease, 2023 - Elsevier
Abstract Spastic paraplegia type 11 (SPG11) is a common autosomal recessive form of
hereditary spastic paraplegia (HSP) characterized by the degeneration of cortical motor …

Brain Structural Signature of RFC1‐Related Disorder

PCAAP Matos, TJR Rezende, GS Schmitt… - Movement …, 2021 - Wiley Online Library
Background The cerebellar ataxia, neuropathy, and vestibular areflexia syndrome was
initially described in the early 1990s as a late‐onset slowly progressive condition. Its …

Systematic analysis of brain MRI findings in adaptor protein complex 4–associated hereditary spastic paraplegia

D Ebrahimi-Fakhari, JE Alecu, M Ziegler, G Geisel… - Neurology, 2021 - neurology.org
Background and Objectives AP-4-associated hereditary spastic paraplegia (AP-4-HSP:
SPG47, SPG50, SPG51, SPG52) is an emerging cause of childhood-onset hereditary …