[HTML][HTML] 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 …

Calpain research for drug discovery: challenges and potential

Y Ono, TC Saido, H Sorimachi - Nature Reviews Drug Discovery, 2016 - nature.com
Calpains are a family of proteases that were scientifically recognized earlier than
proteasomes and caspases, but remain enigmatic. However, they are known to participate in …

[HTML][HTML] 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 …

Update on the genetics of spastic paraplegias

M Boutry, S Morais, G Stevanin - Current neurology and neuroscience …, 2019 - Springer
Abstract Purpose of Review Hereditary spastic paraplegias are a genetically heterogeneous
group of neurological disorders. Patients present lower limb weakness and spasticity …

[HTML][HTML] The classification of autosomal recessive cerebellar ataxias: a consensus statement from the society for research on the cerebellum and ataxias task force

M Beaudin, A Matilla-Dueñas, BW Soong, JL Pedroso… - The Cerebellum, 2019 - Springer
There is currently no accepted classification of autosomal recessive cerebellar ataxias, a
group of disorders characterized by important genetic heterogeneity and complex …

The calcium-dependent protease calpain in neuronal remodeling and neurodegeneration

E Metwally, G Zhao, YQ Zhang - Trends in Neurosciences, 2021 - cell.com
Calpains are evolutionarily conserved and widely expressed Ca 2+-activated cysteine
proteases that act at neutral pH. The activity of calpains is tightly regulated, given that their …

Nomenclature of genetic movement disorders: recommendations of the International Parkinson and Movement Disorder Society task force–an update

LM Lange, P Gonzalez‐Latapi… - Movement …, 2022 - Wiley Online Library
Abstract In 2016, the Movement Disorder Society Task Force for the Nomenclature of
Genetic Movement Disorders presented a new system for naming genetically determined …

Hereditary ataxias and paraparesias: clinical and genetic update

L Parodi, G Coarelli, G Stevanin, A Brice… - Current opinion in …, 2018 - journals.lww.com
The increase of HSPs and HCAs-related phenotypes and the continuous discovery of genes
complicate clinical diagnostic in practice but, at the same time, it helps highlighting common …

Hereditary spastic paraplegia: Genetic heterogeneity and common pathways

E Panza, A Meyyazhagan, A Orlacchio - Experimental Neurology, 2022 - Elsevier
Abstract Hereditary Spastic Paraplegias (HSPs) are a heterogeneous group of disease,
mainly characterized by progressive spasticity and weakness of the lower limbs resulting …