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 …

The puzzle of hereditary spastic paraplegia: from epidemiology to treatment

A Meyyazhagan, H Kuchi Bhotla… - International Journal of …, 2022 - mdpi.com
Inherited neurodegenerative pathology characterized by lower muscle tone and increasing
spasticity in the lower limbs is termed hereditary spastic paraplegia (HSP). HSP is …

Lost in traffic: consequences of altered palmitoylation in neurodegeneration

F Ramzan, F Abrar, GG Mishra, LMQ Liao… - Frontiers in …, 2023 - frontiersin.org
One of the first molecular events in neurodegenerative diseases, regardless of etiology, is
protein mislocalization. Protein mislocalization in neurons is often linked to proteostasis …

ER morphology in the pathogenesis of hereditary spastic paraplegia

S Sonda, D Pendin, A Daga - Cells, 2021 - mdpi.com
The endoplasmic reticulum (ER) is the most abundant and widespread organelle in cells. Its
peculiar membrane architecture, formed by an intricate network of tubules and cisternae, is …

Iron-sensitive MR imaging of the primary motor cortex to differentiate hereditary spastic paraplegia from other motor neuron diseases

M Cosottini, G Donatelli, I Ricca, F Bianchi, D Frosini… - European …, 2022 - Springer
Objectives Hereditary spastic paraplegia (HSP) is a group of genetic neurodegenerative
diseases characterised by upper motor neuron (UMN) impairment of the lower limbs. The …

Autologous iPSC-derived human neuromuscular junction to model the pathophysiology of hereditary spastic paraplegia

D Costamagna, V Casters, M Beltrà, M Sampaolesi… - Cells, 2022 - mdpi.com
Hereditary spastic paraplegia (HSP) is a heterogeneous group of genetic
neurodegenerative disorders, characterized by progressive lower limb spasticity and …

SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction

L Marrone, PM Marchi, CP Webster… - Human Molecular …, 2022 - academic.oup.com
Hereditary spastic paraplegia type 15 (HSP15) is a neurodegenerative condition caused by
the inability to produce SPG15 protein, which leads to lysosomal swelling. However, the link …

Liver X receptor-agonist treatment rescues degeneration in a Drosophila model of hereditary spastic paraplegia

DJ Byrne, ME Garcia-Pardo, NB Cole… - Acta Neuropathologica …, 2022 - Springer
Hereditary spastic paraplegias (HSPs) are a group of inherited, progressive
neurodegenerative conditions characterised by prominent lower-limb spasticity and …

Loss-of-function mutation in DDX53 associated with hereditary spastic paraplegia-like disorder

X Yuan, Y Wang, X Li, S Zhong, D Zhou, X Lin… - Journal of Molecular …, 2024 - Springer
Abstract DEAD-box helicase 53 (DDX53) is a member of the DEAD-box protein family of
RNA helicases. Unlike other family members that are responsible for RNA metabolism, the …

Hereditary spastic paraplegia: Novel insights into the pathogenesis and management

WA Awuah, JK Tan, AD Shkodina… - SAGE Open …, 2024 - journals.sagepub.com
Hereditary spastic paraplegia is a genetically heterogeneous neurodegenerative disorder
characterised primarily by muscle stiffness in the lower limbs. Neurodegenerative disorders …