Update on the Genetics of Spastic Paraplegias

A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia

(2018) S. L. Rydning et al.   EUROPEAN JOURNAL OF NEUROLOGY

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China

(2018) En-Lin Dong et al.   Molecular Neurodegeneration

Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration

(2018) Maxime Boutry et al.   Cell Reports

Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination

(2018) Amandine Duchesne et al.   PLoS Genetics

A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder

(2017) A.M. Matthews et al.   European Journal of Medical Genetics

Novel UCHL1 mutations reveal new insights into ubiquitin processing

(2017) Siri L. Rydning et al.   HUMAN MOLECULAR GENETICS

Defects in ER–endosome contacts impact lysosome function in hereditary spastic paraplegia

(2017) Rachel Allison et al.   JOURNAL OF CELL BIOLOGY

CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia

(2017) Vera Tadic et al.   JOURNAL OF NEUROLOGY

Expanding the clinical phenotype of CAPN1- associated mutations: A new case with congenital-onset pure spastic paraplegia

(2017) Lorena Travaglini et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach

(2017) Daniela Burguez et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

(2017) Julien Branchu et al.   NEUROBIOLOGY OF DISEASE

Hereditary spastic paraplegia: More than an upper motor neuron disease

(2017) L. Parodi et al.   REVUE NEUROLOGIQUE

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene

(2017) Chong Kun Cheon et al.   Scientific Reports

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

(2016) Ziv Gan-Or et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

(2016) Rebecca Schüle et al.   ANNALS OF NEUROLOGY

Cognitive Impairment Involving Social Cognition in SPG4 Hereditary Spastic Paraplegia

(2016) Ludivine Chamard et al.   BEHAVIOURAL NEUROLOGY

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

(2016) Eleanna Kara et al.   BRAIN

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan

(2016) Liena E O Elsayed et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Conserved pharmacological rescue of hereditary spastic paraplegia-related phenotypes across model organisms

(2016) Carl Julien et al.   HUMAN MOLECULAR GENETICS

ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia

(2016) Thomas Musacchio et al.   JOURNAL OF NEUROLOGY

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans

(2016) Yubin Wang et al.   Cell Reports

ALS5/SPG11/KIAA1840mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

(2015) Celeste Montecchiani et al.   BRAIN

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

(2015) Marie Coutelier et al.   BRAIN

Expanding Roles for Lipid Droplets

(2015) Michael A. Welte   CURRENT BIOLOGY

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

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease

(2015) Jennifer Hirst et al.   HUMAN MOLECULAR GENETICS

A Newly Identified Missense Mutation inFARS2Causes Autosomal-Recessive Spastic Paraplegia

(2015) Ying Yang et al.   HUMAN MUTATION

Spastin Binds to Lipid Droplets and Affects Lipid Metabolism

(2015) Chrisovalantis Papadopoulos et al.   PLoS Genetics

Accumulation of Glucosylceramide in the Absence of the Beta-Glucosidase GBA2 Alters Cytoskeletal Dynamics

(2015) Diana Raju et al.   PLoS Genetics

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

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

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

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

Defective macroautophagic turnover of brain lipids in the TgCRND8 Alzheimer mouse model: prevention by correcting lysosomal proteolytic deficits

(2014) Dun-Sheng Yang et al.   BRAIN

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation

(2014) Tahir Naeem Khan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A

(2014) Peng-Peng Zhu et al.   HUMAN MOLECULAR GENETICS

Functional Mutation Analysis Provides Evidence for a Role of REEP1 in Lipid Droplet Biology

(2014) Julia Falk et al.   HUMAN MUTATION

Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation

(2014) Jaerak Chang et al.   JOURNAL OF CLINICAL INVESTIGATION

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

Motor protein mutations cause a new form of hereditary spastic paraplegia

(2014) A. Caballero Oteyza et al.   NEUROLOGY

The hereditary spastic paraplegia-related enzyme DDHD2 is a principal brain triglyceride lipase

(2014) J. M. Inloes et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

(2014) G. Novarino et al.   SCIENCE

Low dose tubulin-binding drugs rescue peroxisome trafficking deficit in patient-derived stem cells in Hereditary Spastic Paraplegia

(2014) Y. Fan et al.   Biology Open

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

Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity

(2013) Monia B. Hammer 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

PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

(2013) Matthis Synofzik et al.   BRAIN

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

(2013) Gaurav V. Harlalka et al.   BRAIN

REEP3/4 Ensure Endoplasmic Reticulum Clearance from Metaphase Chromatin and Proper Nuclear Envelope Architecture

(2013) Anne-Lore Schlaitz et al.   DEVELOPMENTAL CELL

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

A Conserved Role for Atlastin GTPases in Regulating Lipid Droplet Size

(2013) Robin W. Klemm et al.   Cell Reports

A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System

(2013) Mukhran Khundadze et al.   PLoS Genetics

The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement

(2012) Hiroyuki Ishiura et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

(2012) Stephan Klebe et al.   BRAIN

SPG7mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

(2012) E Sánchez-Ferrero et al.   CLINICAL GENETICS

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

(2012) Stephan Klebe et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Spg20−/− mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling

(2012) Benoît Renvoisé et al.   HUMAN MOLECULAR GENETICS

Reticulon-like-1, the Drosophila orthologue of the Hereditary Spastic Paraplegia gene reticulon 2, is required for organization of endoplasmic reticulum and of distal motor axons

(2012) N. C. O'Sullivan et al.   HUMAN MOLECULAR GENETICS

Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish

(2012) Elodie Martin et al.   NEUROBIOLOGY OF DISEASE

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

(2011) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

(2011) Jean-Baptiste Rivière 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

Autosomal recessive spastic ataxia of Charlevoix–Saguenay: An overview

(2011) Yosr Bouhlal et al.   PARKINSONISM & RELATED DISORDERS

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

(2010) A. Orlacchio et al.   BRAIN

Common and Uncommon Pathogenic Cascades in Lysosomal Storage Diseases

(2010) Einat B. Vitner et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network

(2010) Seong H. Park et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2010) Christophe Verny et al.   MITOCHONDRION

Zebrafish atlastin controls motility and spinal motor axon architecture via inhibition of the BMP pathway

(2010) Coralie Fassier et al.   NATURE NEUROSCIENCE

Hereditary spastic paraplegias: membrane traffic and the motor pathway

(2010) Craig Blackstone et al.   NATURE REVIEWS NEUROSCIENCE

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

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

Homotypic fusion of ER membranes requires the dynamin-like GTPase Atlastin

(2009) Genny Orso et al.   NATURE

Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1

(2009) Michael C. Hanna et al.   NEUROGENETICS

Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy

(2008) Daniella Magen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31

(2008) Christian Beetz et al.   BRAIN

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity

(2008) Bettina Ebbing et al.   HUMAN MOLECULAR GENETICS

Atlastin GTPases are required for Golgi apparatus and ER morphogenesis

(2008) Neggy Rismanchi et al.   HUMAN MOLECULAR GENETICS

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

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

(2008) Sara Salinas et al.   LANCET NEUROLOGY

Structural basis for midbody targeting of spastin by the ESCRT-III protein CHMP1B

(2008) Dong Yang et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Membrane Proteins of the Endoplasmic Reticulum Induce High-Curvature Tubules

(2008) J. Hu et al.   SCIENCE

Spastin Couples Microtubule Severing to Membrane Traffic in Completion of Cytokinesis and Secretion

(2008) James W. Connell et al.   TRAFFIC