Category Archives: publication

Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype. Teyssou et al, Neurobiol Ag 2017

Abstract: Mutations in UBQLN2 have been associated with rare cases of X-linked juvenile and adult forms of amyotrophic lateral sclerosis (ALS) and ALS linked to frontotemporal dementia (FTD). Here, we report 1 known (c.1489C>T, p.Pro497Ser, P497S) and 3 novel (c.1481C>T,

Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype. Teyssou et al, Neurobiol Ag 2017

Abstract: Mutations in UBQLN2 have been associated with rare cases of X-linked juvenile and adult forms of amyotrophic lateral sclerosis (ALS) and ALS linked to frontotemporal dementia (FTD). Here, we report 1 known (c.1489C>T, p.Pro497Ser, P497S) and 3 novel (c.1481C>T,

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias, by Morais et al, Eur J Hum Genet 2017

Abstract: Hereditary spastic paraplegias (HSP) are neurodegenerative disorders characterized by lower limb spasticity and weakness that can be complicated by other neurological or non-neurological signs. Despite a high genetic heterogeneity (>60 causative genes), 40-70% of the families remain without a

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias, by Morais et al, Eur J Hum Genet 2017

Abstract: Hereditary spastic paraplegias (HSP) are neurodegenerative disorders characterized by lower limb spasticity and weakness that can be complicated by other neurological or non-neurological signs. Despite a high genetic heterogeneity (>60 causative genes), 40-70% of the families remain without a

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies by Coutelier et al, Brain 2017

  Coutelier et al, BRAIN 2017 Autosomal dominant cerebellar ataxias have a marked heterogeneous genetic background, with mutations in 34 genes identified so far. This large amount of implicated genes accounts for heterogeneous clinical presentations, making genotype-phenotype correlations a major

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies by Coutelier et al, Brain 2017

  Coutelier et al, BRAIN 2017 Autosomal dominant cerebellar ataxias have a marked heterogeneous genetic background, with mutations in 34 genes identified so far. This large amount of implicated genes accounts for heterogeneous clinical presentations, making genotype-phenotype correlations a major

Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration. Branchu et al, Neurobiol dis 2017

Neurobiology of Disease; Volume 102, June 2017, Pages 21–37 Highlights • Spg11 knockout mouse recapitulates the motor and cognitive symptoms observed in patients. • Spg11 knockout mouse presents neurodegeneration in cortex, cerebellum, hippocampus and spinal cord. • Loss of spatacsin, the

Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration. Branchu et al, Neurobiol dis 2017

Neurobiology of Disease; Volume 102, June 2017, Pages 21–37 Highlights • Spg11 knockout mouse recapitulates the motor and cognitive symptoms observed in patients. • Spg11 knockout mouse presents neurodegeneration in cortex, cerebellum, hippocampus and spinal cord. • Loss of spatacsin, the

Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation, Lavie et al, Hum Mol Genet

Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation By Lavie J, Serrat R, Bellance N, Courtand G, Dupuy JW, Tesson C, Coupry I, Brice A, Lacombe D, Durr A, Stevanin G, Darios

Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation, Lavie et al, Hum Mol Genet

Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation By Lavie J, Serrat R, Bellance N, Courtand G, Dupuy JW, Tesson C, Coupry I, Brice A, Lacombe D, Durr A, Stevanin G, Darios

Hereditary spastic paraplegias in Sudan by Elsayed et al, Eur J Hum Genet 2016

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.   Elsayed LE et al, European Journal of Human Genetics (7 September 2016) | doi:10.1038/ejhg.2016.108 Abstract Hereditary spastic paraplegias (HSP) are

Hereditary spastic paraplegias in Sudan by Elsayed et al, Eur J Hum Genet 2016

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.   Elsayed LE et al, European Journal of Human Genetics (7 September 2016) | doi:10.1038/ejhg.2016.108 Abstract Hereditary spastic paraplegias (HSP) are

Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins, by Alves et al, Mol Neurodeg 2016

Alves S, Marais T, Biferi MG, Furling D, Marinello M, El-Hachimi KH, Cartier N, Ruberg M, Stevanin G, Brice A, Barkats M, Sittler A. Mol Neurodeg 2016 (advance on line Jul 28) LINK to the full publication Background We used

Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins, by Alves et al, Mol Neurodeg 2016

Alves S, Marais T, Biferi MG, Furling D, Marinello M, El-Hachimi KH, Cartier N, Ruberg M, Stevanin G, Brice A, Barkats M, Sittler A. Mol Neurodeg 2016 (advance on line Jul 28) LINK to the full publication Background We used