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 …

[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 …

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 …

The neuro-ophthalmology of mitochondrial disease

JA Fraser, V Biousse, NJ Newman - Survey of ophthalmology, 2010 - Elsevier
Mitochondrial diseases frequently manifest neuro-ophthalmologic symptoms and signs.
Because of the predilection of mitochondrial disorders to involve the optic nerves …

Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention

Z Wang, A Emmerich, NJ Pillon, T Moore, D Hemerich… - Nature …, 2022 - nature.com
Although physical activity and sedentary behavior are moderately heritable, little is known
about the mechanisms that influence these traits. Combining data for up to 703,901 …

Hereditary spastic paraplegia

JK Fink - Current neurology and neuroscience reports, 2006 - Springer
The hereditary spastic paraplegias (HSPs) comprise a large group of inherited neurologic
disorders. HSP is classified according to the mode of inheritance, the HSP locus when …

Hereditary spastic paraplegia: clinical principles and genetic advances

JK Fink - Seminars in neurology, 2014 - thieme-connect.com
Hereditary spastic paraplegia (HSP) refers to inherited disorders in which spastic gait is
either the only feature or is a major syndrome feature. There are more than 70 genetic types …

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

C Beetz, A Johnson, AL Schuh… - Proceedings of the …, 2013 - National Acad Sciences
Hereditary spastic paraplegias are a clinically and genetically heterogeneous group of gait
disorders. Their pathological hallmark is a length-dependent distal axonopathy of nerve …