Category Archives: publication

Hereditary spastic paraplegia: More than an upper motor neuron disease, by Parodi et al, Rev Neurol 2017

Hereditary spastic paraplegia: More than an upper motor neuron disease – 17/05/17 Doi : 10.1016/j.neurol.2017.03.034  L. Parodi a, S. Fenu a, b, G. Stevanin a, b, c, A. Durr a, b,  a Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Université, UPMC Univ Paris 06, UMRS_1127, INSERM, U 1127, CNRS, UMR 7225,

Hereditary spastic paraplegia: More than an upper motor neuron disease, by Parodi et al, Rev Neurol 2017

Hereditary spastic paraplegia: More than an upper motor neuron disease – 17/05/17 Doi : 10.1016/j.neurol.2017.03.034  L. Parodi a, S. Fenu a, b, G. Stevanin a, b, c, A. Durr a, b,  a Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Université, UPMC Univ Paris 06, UMRS_1127, INSERM, U 1127, CNRS, UMR 7225,

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families. By Hammer et al, Neurodeg dis 2017

Abstract BACKGROUND: Autosomal recessive cerebellar ataxias (ARCA) are a complex group of neurodegenerative disorders with high clinical and genetic heterogeneity. In most cases, the cerebellar ataxia is not pure, and complicating clinical features such as pyramidal signs or extraneurological features

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families. By Hammer et al, Neurodeg dis 2017

Abstract BACKGROUND: Autosomal recessive cerebellar ataxias (ARCA) are a complex group of neurodegenerative disorders with high clinical and genetic heterogeneity. In most cases, the cerebellar ataxia is not pure, and complicating clinical features such as pyramidal signs or extraneurological features

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 challenge

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 challenge

ATXN2 trinucleotide repeat length correlates with risk of ALS. By Sproviero et al. Neurobiol Aging 2017 (advance online Nov 24, 2016)

ATXN2 trinucleotide repeat length correlates with risk of ALS Neurobiol Aging 2017 (advance online Nov 24, 2016) By : Sproviero W, Shatunov A, Stahl D, Shoai M, van Rheenen W, Jones AR, Al-Sarraj S, Andersen PM, Bonini NM, Conforti FL,

ATXN2 trinucleotide repeat length correlates with risk of ALS. By Sproviero et al. Neurobiol Aging 2017 (advance online Nov 24, 2016)

ATXN2 trinucleotide repeat length correlates with risk of ALS Neurobiol Aging 2017 (advance online Nov 24, 2016) By : Sproviero W, Shatunov A, Stahl D, Shoai M, van Rheenen W, Jones AR, Al-Sarraj S, Andersen PM, Bonini NM, Conforti FL,

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia, Cell Rep 2016

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans. Wang Y, Hersheson J, Lopez D, Hammer M, Liu Y, Lee KH, Pinto V, Seinfeld J, Wiethoff S, Sun J, Amouri R,

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia, Cell Rep 2016

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans. Wang Y, Hersheson J, Lopez D, Hammer M, Liu Y, Lee KH, Pinto V, Seinfeld J, Wiethoff S, Sun J, Amouri R,

DNA repair pathways modulating onset in polyglutamine diseases by Bettencourt et al. Ann Neurol 2016

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases By Bettencourt et al. Annals of Neurology 2016 Abstract Objective: The polyglutamine diseases, including Huntington’s disease (HD) and multiple spinocerebellar ataxias (SCAs), are amongst the commonest hereditary

DNA repair pathways modulating onset in polyglutamine diseases by Bettencourt et al. Ann Neurol 2016

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases By Bettencourt et al. Annals of Neurology 2016 Abstract Objective: The polyglutamine diseases, including Huntington’s disease (HD) and multiple spinocerebellar ataxias (SCAs), are amongst the commonest hereditary