Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks

C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases

(2015) Paulo Victor Sgobbi de Souza et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

Clinical and genetic basis of familial amyotrophic lateral sclerosis

(2015) Paulo Victor Sgobbi de Souza et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2

(2015) Nyamkhishig Sambuughin et al.   BMC Neurology

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

(2015) Marie Coutelier et al.   BRAIN

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

(2015) Joanna M. Solowska et al.   BRAIN

A Newly Identified Missense Mutation inFARS2Causes Autosomal-Recessive Spastic Paraplegia

(2015) Ying Yang et al.   HUMAN MUTATION

Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene

(2015) Fatih Bayrakli et al.   JOURNAL OF HUMAN GENETICS

Mosaic dominantTUBB4Amutation in an inbred family with complicated hereditary spastic paraplegia

(2015) Dahlia Kancheva et al.   MOVEMENT DISORDERS

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

(2015) A. Lossos et al.   NEUROLOGY

SPG7 mutations are a common cause of undiagnosed ataxia

(2015) G. Pfeffer et al.   NEUROLOGY

SCA1 patients may present as hereditary spastic paraplegia and must be included in spastic-ataxias group

(2015) José Luiz Pedroso et al.   PARKINSONISM & RELATED DISORDERS

Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting

(2015) S. Klebe et al.   REVUE NEUROLOGIQUE

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

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

Autosomal recessive spastic tetraplegia caused byAP4M1andAP4B1gene mutation: Expansion of the facial and neuroimaging features

(2014) Beyhan Tüysüz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48

(2014) Viviana Pensato et al.   BRAIN

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

(2014) Gerald Pfeffer et al.   BRAIN

Delineation of C12orf65-related phenotypes: a genotype–phenotype relationship

(2014) Ronen Spiegel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2014) Temistocle Lo Giudice et al.   EXPERIMENTAL NEUROLOGY

Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia

(2014) Francesc Pérez-Brangulí et al.   HUMAN MOLECULAR GENETICS

Early-onset optic neuropathy as initial clinical presentation in SPG7

(2014) Christian Marcotulli et al.   JOURNAL OF NEUROLOGY

Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia

(2014) Ayelet Halevy et al.   JOURNAL OF NEUROLOGY

Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation

(2014) H. Shimazaki et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

(2014) Gillian I Rice et al.   NATURE GENETICS

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

(2014) Luis Ruano et al.   NEUROEPIDEMIOLOGY

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

(2014) Y.-T. Liu et al.   NEUROLOGY

Mutations in ADAR1, IFIH1, and RNASEH2B Presenting As Spastic Paraplegia

(2014) Maha Zaki et al.   NEUROPEDIATRICS

PMCA4 (ATP2B4) Mutation in Familial Spastic Paraplegia

(2014) Miaoxin Li et al.   PLoS One

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

(2014) G. Novarino et al.   SCIENCE

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 BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

(2013) Emily C. Oates 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

A NovelGBA2Gene Missense Mutation in Spastic Ataxia

(2013) Christina Votsi et al.   ANNALS OF HUMAN GENETICS

Carnitine palmitoyltransferase 1C deficiency causes motor impairment and hypoactivity

(2013) Patricia Carrasco et al.   BEHAVIOURAL BRAIN RESEARCH

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

(2013) Matthis Synofzik et al.   BRAIN

AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder

(2013) Naiara Akizu et al.   CELL

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

(2013) Guida Landouré et al.   HUMAN MUTATION

Pure adult-onset Spastic Paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene

(2013) Susanne T. Bot et al.   JOURNAL OF NEUROLOGY

De novopartial deletion inGRID2presenting with complicated spastic paraplegia

(2013) André Maier et al.   MUSCLE & NERVE

Mutation inFAM134Bcausing hereditary sensory neuropathy with spasticity in a Turkish family

(2013) Elif Ilgaz Aydinlar et al.   MUSCLE & NERVE

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

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

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

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

(2012) Josef Finsterer et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Reviewing the genetic causes of spastic-ataxias

(2012) S. T. de Bot et al.   NEUROLOGY

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

Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations

(2011) A Arnoldi et al.   CLINICAL GENETICS

Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration

(2011) Tyler Mark Pierson et al.   EUROPEAN 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

A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures

(2011) Yeşerin Yıldırım et al.   HUMAN MOLECULAR GENETICS

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

(2011) Antonio Orlacchio et al.   JOURNAL OF NEUROLOGY

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

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

Child Neurology: Hereditary spastic paraplegia in children

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

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

Spastic Paraplegia, Optic Atrophy, and Neuropathy: New Observations, Locus Refinement, and Exclusion of Candidate Genes

(2009) Lúcia Inês Macedo-Souza et al.   ANNALS OF HUMAN GENETICS

Developmental and degenerative features in a complicated spastic paraplegia

(2009) M. Chiara Manzini et al.   ANNALS OF NEUROLOGY

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

Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity

(2009) A Boukhris et al.   CLINICAL GENETICS

Orphan nuclear receptor TLX activates Wnt/β-catenin signalling to stimulate neural stem cell proliferation and self-renewal

(2009) Qiuhao Qu et al.   NATURE CELL BIOLOGY

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

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

A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?

(2009) Esther Brusse et al.   NEUROGENETICS

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

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

(2009) C. Goizet et al.   NEUROLOGY

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

Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease

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

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

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

(2008) Alessia Arnoldi et al.   HUMAN MUTATION

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

(2008) Sara Salinas et al.   LANCET NEUROLOGY

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

Spastic paraplegia 15: Linkage and clinical description of three Tunisian families

(2007) Amir Boukhris et al.   MOVEMENT DISORDERS