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 …

Myelination and the trophic support of long axons

KA Nave - Nature Reviews Neuroscience, 2010 - nature.com
In addition to their role in providing myelin for rapid impulse propagation, the glia that
ensheath long axons are required for the maintenance of normal axon transport and long …

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

JK Fink - Acta neuropathologica, 2013 - Springer
Hereditary spastic paraplegia (HSP) is a syndrome designation describing inherited
disorders in which lower extremity weakness and spasticity are the predominant symptoms …

Therapeutic strategies targeting connexins

DW Laird, PD Lampe - Nature reviews Drug discovery, 2018 - nature.com
The connexin family of channel-forming proteins is present in every tissue type in the human
anatomy. Connexins are best known for forming clustered intercellular channels, structurally …

Hypomyelinating leukodystrophies—Unravelling myelin biology

NI Wolf, C Ffrench-Constant… - Nature Reviews …, 2021 - nature.com
Hypomyelinating leukodystrophies constitute a subset of genetic white matter disorders
characterized by a primary lack of myelin deposition. Most patients with severe …

[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 …

Hereditary spastic paraplegia: clinical and genetic hallmarks

PVS de Souza, WBV de Rezende Pinto… - The Cerebellum, 2017 - Springer
Hereditary spastic paraplegia comprises a wide and heterogeneous group of inherited
neurodegenerative and neurodevelopmental disorders resulting from primary retrograde …

Insights into clinical, genetic, and pathological aspects of hereditary spastic paraplegias: a comprehensive overview

LEO Elsayed, IZ Eltazi, AE Ahmed… - Frontiers in Molecular …, 2021 - frontiersin.org
Hereditary spastic paraplegias (HSP) are a heterogeneous group of motor
neurodegenerative disorders that have the core clinical presentation of pyramidal syndrome …

Overcoming the divide between ataxias and spastic paraplegias: shared phenotypes, genes, and pathways

M Synofzik, R Schüle - Movement Disorders, 2017 - Wiley Online Library
Autosomal‐dominant spinocerebellar ataxias, autosomal‐recessive spinocerebellar ataxias,
and hereditary spastic paraplegias have traditionally been designated in separate …

Cellular pathways of hereditary spastic paraplegia

C Blackstone - Annual review of neuroscience, 2012 - annualreviews.org
Human voluntary movement is controlled by the pyramidal motor system, a long CNS
pathway comprising corticospinal and lower motor neurons. Hereditary spastic paraplegias …