[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 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 …

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

G Stevanin, FM Santorelli, H Azzedine, P Coutinho… - Nature …, 2007 - nature.com
Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum
(TCC) is a common and clinically distinct form of familial spastic paraplegia that is linked to …

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

G Stevanin, H Azzedine, P Denora, A Boukhris, M Tazir… - Brain, 2008 - academic.oup.com
Hereditary spastic paraplegias (HSP) are neurodegenerative diseases mainly characterized
by lower limb spasticity associated, in complicated forms, with additional neurological signs …

[HTML][HTML] Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration

J Branchu, M Boutry, L Sourd, M Depp, C Leone… - Neurobiology of …, 2017 - Elsevier
Mutations in SPG11 account for the most common form of autosomal recessive hereditary
spastic paraplegia (HSP), characterized by a gait disorder associated with various brain …

SPG11 spastic paraplegia: a new cause of juvenile parkinsonism

M Anheim, C Lagier-Tourenne, G Stevanin, M Fleury… - Journal of …, 2009 - Springer
Autosomal recessive hereditary spastic paraplegia (AR HSP) with thin corpus callosum
(TCC) is a rare neurodegenerative disorder often caused by mutations in the gene encoding …

Musician's dystonia and comorbid anxiety: two sides of one coin?

L Enders, JT Spector, E Altenmüller… - Movement …, 2011 - Wiley Online Library
Background: Psychological abnormalities, including anxiety, have been observed in patients
with musician's dystonia (MD). It is unclear if these conditions develop prior to MD or if they …

Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early‐onset levodopa‐responsive Parkinsonism

A Guidubaldi, C Piano, FM Santorelli… - Movement …, 2011 - Wiley Online Library
Background: Autosomal recessive hereditary spastic paraplegia with thin corpus callosum is
a neurodegenerative disorder characterized by spastic paraparesis, cognitive impairment …

Hereditary spastic paraplegia

JK Fink - Neurologic clinics, 2002 - neurologic.theclinics.com
Hereditary spastic paraplegia (HSP; also known as familial spastic paraplegia [FSP] and
Strumpell-Lorrain syndrome)[1] is a syndromic designation for inherited disorders in which …

SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia

C Paisan-Ruiz, O Dogu, A Yilmaz, H Houlden… - Neurology, 2008 - AAN Enterprises
Background: Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus
callosum (TCC) is a common form of complex hereditary spastic paraplegia. The genetic …