Hereditary spastic paraplegia: pathology, genetics and therapeutic prospects

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

(2015) Joanna M. Solowska et al.   BRAIN

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

(2015) Christelle Tesson et al.   HUMAN GENETICS

Treatment of SPG5 with cholesterol-lowering drugs

(2015) Andrea Mignarri et al.   JOURNAL OF NEUROLOGY

Dalfampridine in hereditary spastic paraplegia: a prospective, open study

(2015) Matthieu Béreau et al.   JOURNAL OF NEUROLOGY

SPG7 Is an Essential and Conserved Component of the Mitochondrial Permeability Transition Pore

(2015) Santhanam Shanmughapriya et al.   MOLECULAR CELL

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia

(2015) A. Lossos et al.   NEUROLOGY

In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11

(2015) Rita-Eva Varga et al.   PLoS Genetics

Mutation inCPT1CAssociated With Pure Autosomal Dominant Spastic Paraplegia

(2015) Carlo Rinaldi et al.   JAMA Neurology

Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia

(2014) Typhaine Esteves et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ZFYVE26/SPASTIZIN

(2014) Chiara Vantaggiato et al.   Autophagy

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

Liver disease in infancy caused by oxysterol 7α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid

(2014) Dongling Dai et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations

(2014) Rocco Liguori 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

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

(2014) G. Novarino et al.   SCIENCE

Hereditary Spastic Paraplegia: Clinical Principles and Genetic Advances

(2014) John Fink   SEMINARS IN NEUROLOGY

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

(2013) John K. Fink   ACTA NEUROPATHOLOGICA

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

Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

(2013) Amir Boukhris et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TECPR2

(2013) Danit Oz-Levi et al.   Autophagy

NeuroGeM, a knowledgebase of genetic modifiers in neurodegenerative diseases

(2013) Dokyun Na et al.   BMC Medical Genomics

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation inC19orf12

(2013) Guida Landouré et al.   HUMAN MUTATION

Long-term results of selective dorsal rhizotomy for hereditary spastic paraparesis

(2013) Ma Kai et al.   JOURNAL OF CLINICAL NEUROSCIENCE

The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy

(2013) Loretta Racis et al.   JOURNAL OF NEUROLOGY

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

(2013) C. Beetz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Autosomal Dominant Spastic Paraplegias

(2013) José Leal Loureiro et al.   JAMA Neurology

Hereditary Ataxia and Spastic Paraplegia in Portugal

(2013) Paula Coutinho et al.   JAMA Neurology

Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis

(2012) Danit Oz-Levi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

(2012) Janneke H.M. Schuurs-Hoeijmakers et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

(2012) Christelle Tesson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cellular Pathways of Hereditary Spastic Paraplegia

(2012) Craig Blackstone   Annual Review of Neuroscience

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

(2012) Gladys Montenegro et al.   JOURNAL OF CLINICAL INVESTIGATION

A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis

(2012) Yifat Zivony-Elboum et al.   JOURNAL OF MEDICAL GENETICS

A homozygous mutation ofC12orf65causes spastic paraplegia with optic atrophy and neuropathy (SPG55)

(2012) Haruo Shimazaki et al.   JOURNAL OF MEDICAL GENETICS

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

(2011) Rami Abou Jamra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

(2011) Y. Erlich et al.   GENOME RESEARCH

Erratum: Hereditary spastic paraplegias: membrane traffic and the motor pathway

(2011) Craig Blackstone et al.   NATURE REVIEWS NEUROSCIENCE

A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)

(2011) Anas M. Alazami et al.   NEUROGENETICS

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)

(2010) Michael C. Kruer et al.   ANNALS OF NEUROLOGY

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)

(2010) Katherine J. Dick et al.   HUMAN MUTATION

The 7-hydroxylation of dehydroepiandrosterone in rat brain

(2010) Aiqun Li et al.   STEROIDS

A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia

(2010) Mikołaj Słabicki et al.   PLOS BIOLOGY

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study

(2009) A. K. Erichsen et al.   BRAIN

Identification of a new form of autosomal dominant spastic paraplegia

(2009)   CLINICAL GENETICS

The prevalence of depression in hereditary spastic paraplegia

(2009) L. Vahter et al.   CLINICAL REHABILITATION

Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study

(2009) Chiara Criscuolo et al.   JOURNAL OF NEUROLOGY

Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3–q25.1

(2009) Umut Dursun et al.   NEUROGENETICS

Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24

(2009) R. Schule et al.   NEUROLOGY

Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration

(2008) Maria K. Tsaousidou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Missense Mutation in SLC33A1, which Encodes the Acetyl-CoA Transporter, Causes Autosomal-Dominant Spastic Paraplegia (SPG42)

(2008) Pengfei Lin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

(2008) Sylvain Hanein et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease

(2008) Shirley Rainier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP)

(2008) Channa Hewamadduma et al.   NEUROGENETICS

Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25

(2008) Lúcia Inês Macedo-Souza et al.   NEUROGENETICS

Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4

(2008) A. Orlacchio et al.   NEUROLOGY

Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13)

(2008) J. Hansen et al.   NEUROSCIENCE