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

Novel crystalloid oligodendrogliopathy in hereditary spastic paraplegia

(2012) Adelheid Woehrer et al.   ACTA NEUROPATHOLOGICA

TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation

(2012) Maria Martinez-Lage et al.   ACTA NEUROPATHOLOGICA

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

Loss ofERLIN2function leads to juvenile primary lateral sclerosis

(2012) Amr Al-Saif et al.   ANNALS OF NEUROLOGY

ERLIN2 promotes breast cancer cell survival by modulating endoplasmic reticulum stress pathways

(2012) Guohui Wang et al.   BMC CANCER

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

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

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)

(2012) Peter Bauer et al.   NEUROGENETICS

Adaptor Protein Complexes AP-4 and AP-5: New Players in Endosomal Trafficking and Progressive Spastic Paraplegia

(2012) Jennifer Hirst et al.   TRAFFIC

Neuronal Functions of ESCRTs

(2012) Jin-A Lee et al.   Experimental Neurobiology

An autopsy case of adult-onset hereditary spastic paraplegia type 2 with a novel mutation in exon 7 of the proteolipid protein 1 gene

(2011) Satoshi O. Suzuki et al.   ACTA NEUROPATHOLOGICA

Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia

(2011) Mohammed A. Aldahmesh et al.   AMERICAN JOURNAL OF HUMAN 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

Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1

(2011) Juan Du et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

NIPA1mutation in complex hereditary spastic paraplegia with epilepsy

(2011) K. Svenstrup et al.   EUROPEAN JOURNAL OF NEUROLOGY

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP

(2011) F. Ropers et al.   HUMAN MOLECULAR GENETICS

Connexins and the gap in context

(2011) R. M. Mroue et al.   Integrative Biology

Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation

(2011) Antonio Orlacchio et al.   JOURNAL OF NEUROLOGY

A new locus (SPG47) maps to 1p13.2–1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum

(2011) Lubov Blumkin et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

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

(2011) Anas M. Alazami et al.   NEUROGENETICS

KIF1A is the primary anterograde motor protein required for the axonal transport of dense-core vesicles in cultured hippocampal neurons

(2011) K.Y. Lo et al.   NEUROSCIENCE LETTERS

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

(2011) G E Lind et al.   ONCOGENE

The Fifth Adaptor Protein Complex

(2011) Jennifer Hirst et al.   PLOS BIOLOGY

Pelizaeus-Merzbacher-like Disease Caused by AIMP1/p43 Homozygous Mutation

(2010) Miora Feinstein et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

(2010) Hana Antonicka et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I

(2010) Christian Guelly et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Generation of lysophosphatidylinositol by DDHD domain containing 1 (DDHD1): Possible involvement of phospholipase D/phosphatidic acid in the activation of DDHD1

(2010) Atsushi Yamashita et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Spartin activates atrophin-1-interacting protein 4 (AIP4) E3 ubiquitin ligase and promotes ubiquitination of adipophilin on lipid droplets

(2010) Christopher Hooper et al.   BMC BIOLOGY

Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases

(2010) Christoph S. Clemen et al.   BRAIN

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

(2010) A. Orlacchio et al.   BRAIN

Symmetry of neurological signs in Pakistani patients with probable inherited spastic cerebral palsy

(2010) Simon Mitchell et al.   CLINICAL GENETICS

Sjögren-Larsson syndrome in Sweden. A clinical, genetic and epidemiological study

(2010) Sten Jagell et al.   CLINICAL GENETICS

Ichthyosis in the Sjögren-Larsson syndrome

(2010) S. Jagell et al.   CLINICAL GENETICS

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)

(2010) Nina A Schlipf et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

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

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

(2010) A. Moreno-De-Luca et al.   JOURNAL OF MEDICAL GENETICS

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

(2010) Christophe Verny et al.   MITOCHONDRION

The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1

(2010) Emmanuel J. Botzolakis et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects

(2010) Tobias Warnecke et al.   MOVEMENT DISORDERS

Network organization of the human autophagy system

(2010) Christian Behrends et al.   NATURE

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

(2010) Coralie Fassier et al.   NATURE NEUROSCIENCE

A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum

(2010) Amir Boukhris et al.   NEUROGENETICS

Child Neurology: Hereditary spastic paraplegia in children

(2010) S. T. de Bot et al.   NEUROLOGY

CRASH Syndrome: Does It Teach Us about Neurotrophic Functions of Cell Adhesion Molecules?

(2010) Ling Zhang   NEUROSCIENTIST

WASH and WAVE actin regulators of the Wiskott-Aldrich syndrome protein (WASP) family are controlled by analogous structurally related complexes

(2010) D. Jia et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy

(2009) Annemieke J.M.H. Verkerk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of a new form of autosomal dominant spastic paraplegia

(2009)   CLINICAL GENETICS

Atlasin GTPases Shape Up ER Networks

(2009) Charles Barlowe   DEVELOPMENTAL CELL

The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling

(2009) Hilda T.H. Tsang et al.   HUMAN MOLECULAR GENETICS

Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients

(2009) Paul R. Kasher et al.   JOURNAL OF NEUROCHEMISTRY

Identification of novel spartin-interactors shows spartin is a multifunctional protein

(2009) Malgorzata Milewska et al.   JOURNAL OF NEUROCHEMISTRY

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

(2009) Chiara Criscuolo et al.   JOURNAL OF NEUROLOGY

SPG11 spastic paraplegia

(2009) Mathieu Anheim et al.   JOURNAL OF NEUROLOGY

Haploinsufficiency of AFG3L2, the Gene Responsible for Spinocerebellar Ataxia Type 28, Causes Mitochondria-Mediated Purkinje Cell Dark Degeneration

(2009) F. Maltecca et al.   JOURNAL OF NEUROSCIENCE

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

(2009) Michael C. Hanna et al.   NEUROGENETICS

Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19

(2009) K. G. Meilleur et al.   NEUROGENETICS

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

(2009) Umut Dursun et al.   NEUROGENETICS

Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene

(2009) Bo Thomsen et al.   NEUROGENETICS

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

(2009) R. Schule et al.   NEUROLOGY

Dementia in SPG4 hereditary spastic paraplegia: Clinical, genetic, and neuropathologic evidence

(2009) S. Murphy et al.   NEUROLOGY

White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1

(2009) Roberta Biancheri et al.   NEUROMUSCULAR DISORDERS

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

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

(2008) Christian Beetz et al.   BRAIN

Seipinopathy: a novel endoplasmic reticulum stress-associated disease

(2008) Daisuke Ito et al.   BRAIN

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

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

Atlastin GTPases are required for Golgi apparatus and ER morphogenesis

(2008) Neggy Rismanchi et al.   HUMAN MOLECULAR GENETICS

A clinical, genetic, and biochemical characterization ofSPG7mutations in a large cohort of patients with hereditary spastic paraplegia

(2008) Alessia Arnoldi 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

Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype

(2008) J. Haberlová et al.   JOURNAL OF NEUROLOGY

Hereditary Spastic Paraplegia-Associated Mutations in the NIPA1 Gene and Its Caenorhabditis elegans Homolog Trigger Neural Degeneration In Vitro and In Vivo through a Gain-of-Function Mechanism

(2008) J. Zhao et al.   JOURNAL OF NEUROSCIENCE

Swiss Cheese, a Protein Involved in Progressive Neurodegeneration, Acts as a Noncanonical Regulatory Subunit for PKA-C3

(2008) A. Bettencourt da Cruz et al.   JOURNAL OF NEUROSCIENCE

Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin

(2008) Antonina Roll-Mecak et al.   NATURE

Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17

(2008) Daisuke Ito et al.   NEUROBIOLOGY OF DISEASE

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

Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes

(2008) F. Brugman et al.   NEUROLOGY

A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23

(2008) K. J. Dick et al.   NEUROLOGY

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

(2008) A. Orlacchio et al.   NEUROLOGY

Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)

(2008) M. A. Kurian 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

Cellular function of neuropathy target esterase in lysophosphatidylcholine action

(2008) Sarah C. Vose et al.   TOXICOLOGY AND APPLIED PHARMACOLOGY

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

(2008) James W. Connell et al.   TRAFFIC