[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 …

[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 …

Cholesterol in brain disease: sometimes determinant and frequently implicated

MG Martín, F Pfrieger, CG Dotti - EMBO reports, 2014 - embopress.org
Cholesterol is essential for neuronal physiology, both during development and in the adult
life: as a major component of cell membranes and precursor of steroid hormones, it …

Human cytochrome P450 enzymes

FP Guengerich - Cytochrome P450: structure, mechanism, and …, 2015 - Springer
Abstract The cytochrome P450 (P450) enzymes first attracted interest because of their
relevance to the metabolism of drugs, steroids, and carcinogens. Collectively, the 57 human …

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 …

[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 …

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

J Finsterer, W Löscher, S Quasthoff, J Wanschitz… - Journal of the …, 2012 - Elsevier
Hereditary spastic paraplegia (SPG) is a clinically and genetically heterogeneous group of
neurodegenerative disorders that are clinically characterised by progressive spasticity and …

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 …

Hereditary spastic paraplegia

C Blackstone - Handbook of clinical neurology, 2018 - Elsevier
The hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurologic
disorders with the common feature of prominent lower-extremity spasticity, resulting from a …

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 …