Paraplégies spastiques héréditaires

No abstract is available for this paper.

• Publication year

  2015

• Venue

  EMC - Neurologie

• Publication date

  2015-11-26

• Fields of study

  Not labeled

• Identifiers
  DOI 10.1016/s0246-0378(15)62615-x
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

• SPG7 mutations are a common cause of undiagnosed ataxia

  2015cited by this paper
• De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

  2015cited by this paper
• Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay.

  2015cited by this paper
• Motor protein mutations cause a new form of hereditary spastic paraplegia

  2014cited by this paper
• Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum

  2014cited by this paper
• The Hsp60 folding machinery is crucial for manganese superoxide dismutase folding and function

  2014cited by this paper
• Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

  2014cited by this paper
• KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction

  2013cited by this paper
• Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

  2013cited by this paper
• Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.

  2013cited by this paper
• SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

  2013cited by this paper
• Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

  2013cited by this paper
• Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.

  2013cited by this paper
• Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases

  2013cited by this paper
• Assuring the quality of next-generation sequencing in clinical laboratory practice

  2012cited by this paper
• Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

  2012cited by this paper
• Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot–Marie–Tooth type 2

  2012cited by this paper
• Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

  2012cited by this paper
• Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.

  2012cited by this paper
• Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia.

  2012cited by this paper
• VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families.

  2012cited by this paper
• Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

  2012cited by this paper
• Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.

  2012cited by this paper
• Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

  2012cited by this paper
• KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

  2012cited by this paper
• Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.

  2012cited by this paper
• 07 Defective mitochondrial mRNA maturation is associated with spastic ataxia

  2011cited by this paper
• Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

  2011cited by this paper
• REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho‐functional dysfunction

  2011cited by this paper
• Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)

  2010cited by this paper
• Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.

  2010cited by this paper
• SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

  2010cited by this paper
• Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis

  2010cited by this paper
• Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia.

  2010cited by this paper
• Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study

  2009cited by this paper
• Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.

  2009cited by this paper
• Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

  2009cited by this paper
• Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

  2009cited by this paper
• Homotypic fusion of ER membranes requires the dynamin-like GTPase Atlastin

  2009cited by this paper
• Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity

  2009cited by this paper
• Spastic Paraplegia, Optic Atrophy, and Neuropathy: New Observations, Locus Refinement, and Exclusion of Candidate Genes

  2009cited by this paper
• New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP)

  2009cited by this paper
• The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling

  2009cited by this paper
• CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

  2009cited by this paper
• The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1

  2009cited by this paper
• Screening of ARHSP‐TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

  2009cited by this paper
• Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia

  2009cited by this paper
• Differentiation of hereditary spastic paraparesis from primary lateral sclerosis in sporadic adult-onset upper motor neuron syndromes.

  2009cited by this paper
• Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10

  2009cited by this paper
• Long-term neurodevelopmental effects of early detection and treatment in a 6-year-old patient with argininaemia diagnosed by newborn screening

  2009cited by this paper
• SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration

  2009cited by this paper
• SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

  2009cited by this paper
• Atlastin‐1, the dynamin‐like GTPase responsible for spastic paraplegia SPG3A, remodels lipid membranes and may form tubules and vesicles in the endoplasmic reticulum

  2009cited by this paper
• Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin

  2008cited by this paper
• Recent advances in the genetics of spastic paraplegias

  2008cited by this paper
• SPG10 is a rare cause of spastic paraplegia in European families

  2008cited by this paper
• REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

  2008cited by this paper
• Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment.

  2008cited by this paper
• Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

  2008cited by this paper
• Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.

  2008cited by this paper
• Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.

  2008cited by this paper
• Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.

  2008cited by this paper
• A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia

  2008cited by this paper
• The Hsp60-(p.V98I) Mutation Associated with Hereditary Spastic Paraplegia SPG13 Compromises Chaperonin Function Both in Vitro and in Vivo*

  2008cited by this paper
• Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.

  2008cited by this paper
• Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.

  2008cited by this paper
• Neuropathy target esterase gene mutations cause motor neuron disease.

  2008cited by this paper
• A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).

  2008cited by this paper
• Mental deficiency in three families with SPG4 spastic paraplegia

  2008cited by this paper
• Hereditary spastic paraplegias: an update

  2007cited by this paper
• Drosophila spichthyin inhibits BMP signaling and regulates synaptic growth and axonal microtubules

  2007cited by this paper
• Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

  2007cited by this paper
• Long‐term course and mutational spectrum of spatacsin‐linked spastic paraplegia

  2007cited by this paper
• NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe

  2007cited by this paper
• Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.

  2007cited by this paper
• The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology

  2007cited by this paper
• Recognition of C-terminal amino acids in tubulin by pore loops in Spastin is important for microtubule severing

  2007cited by this paper
• Molecular pathogenesis of seipin/BSCL2‐related motor neuron diseases

  2007cited by this paper
• Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis.

  2007cited by this paper
• Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia

  2006cited by this paper
• The Spastic Paraplegia Rating Scale (SPRS)

  2006cited by this paper
• Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.

  2006cited by this paper
• High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

  2006cited by this paper
• Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

  2006cited by this paper
• Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia

  2006cited by this paper
• Clinical features of hereditary spastic paraplegia due to spastin mutation

  2006cited by this paper
• BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy.

  2006cited by this paper
• The hereditary spastic paraplegia protein spartin localises to mitochondria

  2006cited by this paper
• A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene

  2006cited by this paper
• A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition.

  2006cited by this paper
• SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development.

  2006cited by this paper
• Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.

  2006cited by this paper
• A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34.

  2006cited by this paper
• SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years

  2006cited by this paper
• Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases

  2005cited by this paper
• Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia

  2005cited by this paper
• Human spastin has multiple microtubule‐related functions

  2005cited by this paper
• The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria.

  2005cited by this paper
• Spastin related hereditary spastic paraplegia with dysplastic corpus callosum.

  2005cited by this paper
• The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B.

  2005cited by this paper

• Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene

  2017cites this paper