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 …

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

G Novarino, AG Fenstermaker, MS Zaki, M Hofree… - science, 2014 - science.org
Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases
characterized by progressive age-dependent loss of corticospinal motor tract function …

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration

AE Schaffer, VRC Eggens, AO Caglayan, MS Reuter… - Cell, 2014 - cell.com
Neurodegenerative diseases can occur so early as to affect neurodevelopment. From a
cohort of more than 2,000 consanguineous families with childhood neurological disease, we …

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 paraplegias: membrane traffic and the motor pathway

C Blackstone, CJ O'kane, E Reid - Nature Reviews Neuroscience, 2011 - nature.com
Voluntary movement is a fundamental way in which animals respond to, and interact with,
their environment. In mammals, the main CNS pathway controlling voluntary movement is …

[HTML][HTML] Zebrafish models of human motor neuron diseases: advantages and limitations

PJ Babin, C Goizet, D Raldúa - Progress in neurobiology, 2014 - Elsevier
Motor neuron diseases (MNDs) are an etiologically heterogeneous group of disorders of
neurodegenerative origin, which result in degeneration of lower (LMNs) and/or upper motor …

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 …

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 …

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 …