Hereditary spastic paraplegia: an update

A Meyyazhagan, A Orlacchio - International Journal of Molecular …, 2022 - mdpi.com
Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disorder with the
predominant clinical manifestation of spasticity in the lower extremities. HSP is categorised …

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 …

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

D Ebrahimi-Fakhari, J Teinert, R Behne, M Wimmer… - Brain, 2020 - academic.oup.com
Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein
complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and …

TFG regulates secretory and endosomal sorting pathways in neurons to promote their activity and maintenance

JL Peotter, I Pustova, MM Lettman… - Proceedings of the …, 2022 - National Acad Sciences
Molecular pathways that intrinsically regulate neuronal maintenance are poorly understood,
but rare pathogenic mutations that underlie neurodegenerative disease can offer important …

Tauopathy and movement disorders—unveiling the chameleons and mimics

J Ganguly, M Jog - Frontiers in Neurology, 2020 - frontiersin.org
The spectrum of tauopathy encompasses heterogenous group of neurodegenerative
disorders characterized by neural or glial deposition of pathological protein tau. Clinically …

Outcome measures and biomarkers for clinical trials in hereditary spastic paraplegia: a scoping review

SF Siow, D Yeow, LI Rudaks, F Jia, G Wali, CM Sue… - Genes, 2023 - mdpi.com
Hereditary spastic paraplegia (HSP) is characterized by progressive lower limb spasticity.
There is no disease-modifying treatment currently available. Therefore, standardized …

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 …

Childhood-onset hereditary spastic paraplegia (HSP): a case series and review of literature

TF Panwala, R Garcia-Santibanez, JA Vizcarra… - Pediatric Neurology, 2022 - Elsevier
Background Hereditary spastic paraplegia (HSP) encompasses several rare genetic
disorders characterized by progressive lower extremity spasticity and weakness caused by …

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 …

Biallelic DDHD2 mutations in patients with adult‐onset complex hereditary spastic paraplegia

YT Chou, SL Hsu, YS Tsai, YJ Lu… - Annals of Clinical …, 2023 - Wiley Online Library
Abstract Objective Hereditary spastic paraplegias (HSPs) are a group of inherited
neurodegenerative disorders characterized by slowly progressive lower limb spasticity and …