Axonal transport deficits and neurodegenerative diseases

S Millecamps, JP Julien - Nature Reviews Neuroscience, 2013 - nature.com
The intracellular transport of organelles along an axon is crucial for the maintenance and
function of a neuron. Anterograde axonal transport has a role in supplying proteins and …

[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: clinicogenetic lessons from 608 patients

R Schüle, S Wiethoff, P Martus, KN Karle… - Annals of …, 2016 - Wiley Online Library
Objective Hereditary spastic paraplegias (HSPs) are genetically driven disorders with the
hallmark of progressive spastic gait disturbance. To investigate the phenotypic spectrum …

Germline Mutations in SUFU Cause Gorlin Syndrome–Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations

MJ Smith, C Beetz, SG Williams, SS Bhaskar… - Journal of Clinical …, 2014 - ascopubs.org
Purpose Heterozygous germline PTCH1 mutations are causative of Gorlin syndrome
(naevoid basal cell carcinoma), but detection rates> 70% have rarely been reported. We …

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

S Salinas, C Proukakis, A Crosby… - The Lancet Neurology, 2008 - thelancet.com
Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic
neurodegenerative disorders in which the most severely affected neurons are those of the …

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 …

Hereditary spastic paraplegia SPG4: what is known and not known about the disease

JM Solowska, PW Baas - Brain, 2015 - academic.oup.com
Mutations in more than 70 distinct loci and more than 50 mutated gene products have been
identified in patients with hereditary spastic paraplegias, a diverse group of neurological …

Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology

C Tesson, J Koht, G Stevanin - Human genetics, 2015 - Springer
Hereditary spastic paraplegias (HSP) are rare neurodegenerative diseases sharing the
degeneration of the corticospinal tracts as the main pathological characteristic. They are …

Hereditary spastic paraplegias: an update

C Depienne, G Stevanin, A Brice… - Current opinion in …, 2007 - journals.lww.com
Hereditary spastic paraplegias: an update : Current Opinion in Neurology Hereditary spastic
paraplegias: an update : Current Opinion in Neurology Log in or Register Subscribe to …