The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment

Hereditary Spastic Paraplegia: An Update

(2022) Arun Meyyazhagan et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Hereditary spastic paraparesis: The real-world experience from a Neurogenetics outpatient clinic

(2022) Inês A. Cunha et al.   European Journal of Medical Genetics

Hereditary spastic paraplegia

(2021) Sireesha Murala et al.   NEUROLOGICAL SCIENCES

Hereditary Spastic Paraplegia and Future Therapeutic Directions: Beneficial Effects of Small Compounds Acting on Cellular Stress

(2021) Sentiljana Gumeni et al.   Frontiers in Neuroscience

Hereditary Spastic Paraplegia: From Genes, Cells and Networks to Novel Pathways for Drug Discovery

(2021) Alan Mackay-Sim   Brain Sciences

Implication of folate deficiency in CYP2U1 loss of function

(2021) Claire Pujol et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Modeling gain-of-function and loss-of-function components of SPAST-based hereditary spastic paraplegia using transgenic mice

(2021) Emanuela Piermarini et al.   HUMAN MOLECULAR GENETICS

A Novel SPAST Mutation Results in Spastin Accumulation and Defects in Microtubule Dynamics

(2021) Rui Chen et al.   MOVEMENT DISORDERS

Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview

(2021) Liena E. O. Elsayed et al.   Frontiers in Molecular Biosciences

Lipids in the Physiopathology of Hereditary Spastic Paraplegias

(2020) Frédéric Darios et al.   Frontiers in Neuroscience

Hereditary spastic paraplegia type 11 (SPG11) is associated with obesity and hypothalamic damage

(2020) Ana Luisa de Carvalho Cardozo-Hernández et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

“Ears of the Lynx” MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia

(2019) B. Pascual et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants

(2019) Anders Toft et al.   JOURNAL OF NEUROLOGY

Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature

(2019) Marta Bellofatto et al.   Frontiers in Neurology

New Hypothesis for the Etiology of SPAST‐ based Hereditary Spastic Paraplegia

(2019) Liang Qiang et al.   Cytoskeleton

Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches

(2019) Samuel Shribman et al.   LANCET NEUROLOGY

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

(2019) Maartje Pennings et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

(2019) Frédéric M Vaz et al.   BRAIN

Genotype–phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients

(2019) Maryam Erfanian Omidvar et al.   JOURNAL OF NEUROLOGY

MitCHAP-60 and Hereditary Spastic Paraplegia SPG-13 Arise from an Inactive hsp60 Chaperonin that Fails to Fold the ATP Synthase β-Subunit

(2019) Jinliang Wang et al.   Scientific Reports

Severe 5,10-methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia

(2018) A. Perna et al.   EUROPEAN JOURNAL OF NEUROLOGY

Impact of Admission Imaging Findings on Neurological Outcomes in Acute Cervical Traumatic Spinal Cord Injury

(2018) H. Francis Farhadi et al.   JOURNAL OF NEUROTRAUMA

Clinical features and management of hereditary spastic paraplegia

(2017) Ingrid Faber et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

Selective dorsal rhizotomy for hereditary spastic paraparesis in children

(2016) Julia Sharma et al.   CHILDS NERVOUS SYSTEM

Combined Treatment Fkt-Botulinum Toxin Type A (Btx-A) in Patients with Strumpell-Lorrain Disease

(2016) Marvulli Riccardo et al.   CURRENT PHARMACEUTICAL DESIGN

The Effects of Dalfampridine on Hereditary Spastic Paraparesis

(2016) Ugur Uygunoglu et al.   EUROPEAN NEUROLOGY

Hereditary spastic paraplegia: pathology, genetics and therapeutic prospects

(2016) Roberto Di Fabio et al.   Expert Opinion on Orphan Drugs

Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study

(2016) Andrea Martinuzzi et al.   PLoS One

Improved Gait Performance in a Patient With Hereditary Spastic Paraplegia After a Continuous Intrathecal Baclofen Test Infusion and Subsequent Pump Implantation: A Case Report

(2015) Herre W. Heetla et al.   ARCHIVES OF PHYSICAL MEDICINE AND REHABILITATION

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

(2015) Marie Coutelier et al.   BRAIN

SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases

(2015) Karine Choquet et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Dalfampridine in hereditary spastic paraplegia: a prospective, open study

(2015) Matthieu Béreau et al.   JOURNAL OF NEUROLOGY

Robot-Assisted Gait Training in a Patient With Hereditary Spastic Paraplegia

(2015) Han Gil Seo et al.   PM&R

Intrathecal baclofen therapy for the symptomatic treatment of hereditary spastic paraplegia

(2014) Konstantinos Margetis et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms

(2014) Temistocle Lo Giudice et al.   EXPERIMENTAL NEUROLOGY

The effect of hydrotherapy treatment on gait characteristics of hereditary spastic paraparesis patients

(2014) Yanxin Zhang et al.   GAIT & POSTURE

Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing

(2014) Anke Hensiek et al.   JOURNAL OF NEUROLOGY

The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

(2014) Luis Ruano et al.   NEUROEPIDEMIOLOGY

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

(2013) Elodie Martin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to l-DOPA treatment

(2013) Conceição Bettencourt et al.   JOURNAL OF NEUROLOGY

Cellular Pathways of Hereditary Spastic Paraplegia

(2012) Craig Blackstone   Annual Review of Neuroscience

Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher-Like Disease 1, and Related Hypomyelinating Disorders

(2012) Grace Hobson et al.   SEMINARS IN NEUROLOGY

Urban planning of the endoplasmic reticulum (ER): How diverse mechanisms segregate the many functions of the ER

(2011) Emily M. Lynes et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Central nervous system dysfunction in a mouse model of Fa2h deficiency

(2011) Kathleen A. Potter et al.   GLIA

Axon-glial interaction in the CNS: what we have learned from mouse models of Pelizaeus-Merzbacher disease

(2011) Fredrik I. Gruenenfelder et al.   JOURNAL OF ANATOMY

Spartin recruits PKC-ζ via the PKC-ζ-interacting proteins ZIP1 and ZIP3 to lipid droplets

(2011) Andreas Urbanczyk et al.   JOURNAL OF NEUROCHEMISTRY

SPG20, a novel biomarker for early detection of colorectal cancer, encodes a regulator of cytokinesis

(2011) G E Lind et al.   ONCOGENE

Further assembly required: construction and dynamics of the endoplasmic reticulum network

(2010) Seong H Park et al.   EMBO REPORTS

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation

(2010) Christophe Verny et al.   MITOCHONDRION

A nucleator arms race: cellular control of actin assembly

(2010) Kenneth G. Campellone et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis

(2009) Rebecca Schüle et al.   JOURNAL OF LIPID RESEARCH

Mitochondrial Disorders in the Nervous System

(2008) Salvatore DiMauro et al.   Annual Review of Neuroscience

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

(2008) Jennifer L. Orthmann-Murphy et al.   BRAIN

FAK–MAPK-dependent adhesion disassembly downstream of L1 contributes to semaphorin3A-induced collapse

(2008) Ahmad Bechara et al.   EMBO JOURNAL

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity

(2008) Bettina Ebbing et al.   HUMAN MOLECULAR GENETICS

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10

(2008) Cyril Goizet et al.   HUMAN MUTATION

The Hsp60-(p.V98I) Mutation Associated with Hereditary Spastic Paraplegia SPG13 Compromises Chaperonin Function Bothin Vitroandin Vivo

(2008) Peter Bross et al.   JOURNAL OF BIOLOGICAL CHEMISTRY