Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

by Thomas Roux et al; Genet Med. 2020 Jul 27. doi: 10.1038/s41436-020-0899-x.  Purpose Pathogenic variants in STUB1 were initially described in autosomal recessive spinocerebellar ataxia type 16 and dominant cerebellar ataxia with cerebellar cognitive dysfunction (SCA48). Methods We analyzed a large series of 440

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

by Thomas Roux et al; Genet Med. 2020 Jul 27. doi: 10.1038/s41436-020-0899-x.  Purpose Pathogenic variants in STUB1 were initially described in autosomal recessive spinocerebellar ataxia type 16 and dominant cerebellar ataxia with cerebellar cognitive dysfunction (SCA48). Methods We analyzed a large series of 440

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International registry for Natural History of SPG11 and SPG15 patients

SPATAX is happy to announce the launching of an international registry for Natural History of SPG11 and SPG15 patients (NAT-HIS SPG 11/15) During the last SPATAX congress, the importance to have a common database with all our centers in order

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International registry for Natural History of SPG11 and SPG15 patients

SPATAX is happy to announce the launching of an international registry for Natural History of SPG11 and SPG15 patients (NAT-HIS SPG 11/15) During the last SPATAX congress, the importance to have a common database with all our centers in order

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Journée des maladies rares, le 29 février 2020

LES ÉQUIPES DE RECHERCHE DE L’INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE (ICM) TENTENT  D’IDENTIFIER LES CAUSES DE 14 MALADIES NEUROLOGIQUES RARES AFIN D’ACCÉLÉRER LEUR DIAGNOSTIC ET DE PROPOSER DES TRAITEMENTS ADAPTÉS EN PARTICULIER PAR THÉRAPIE GÉNIQUE. https://icm-institute.org/fr/actualite/journee-mondiale-maladies-rares/

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Journée des maladies rares, le 29 février 2020

LES ÉQUIPES DE RECHERCHE DE L’INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE (ICM) TENTENT  D’IDENTIFIER LES CAUSES DE 14 MALADIES NEUROLOGIQUES RARES AFIN D’ACCÉLÉRER LEUR DIAGNOSTIC ET DE PROPOSER DES TRAITEMENTS ADAPTÉS EN PARTICULIER PAR THÉRAPIE GÉNIQUE. https://icm-institute.org/fr/actualite/journee-mondiale-maladies-rares/

Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS, Amador et al, Neurol Genet 2019

Abstract Objective The aim of this study was to evaluate whether mutations in ERLIN2, known to cause SPG18, a recessive hereditary spastic paraplegia (SP) responsible for the degeneration of the upper motor neurons leading to weakness and spasticity restricted to the lower

Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS, Amador et al, Neurol Genet 2019

Abstract Objective The aim of this study was to evaluate whether mutations in ERLIN2, known to cause SPG18, a recessive hereditary spastic paraplegia (SP) responsible for the degeneration of the upper motor neurons leading to weakness and spasticity restricted to the lower

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2019 HSP survey open to participants

The 2019 HSP survey is now active for those with HSP. The focus is on: Medication for HSP Exercise and Relaxation Lifespace Tracking Your perspectives on a few issues You can find a link on the blog of Adam Lawrence: https://hspjourney.blogspot.com/2019/…/2019-survey-open.html You

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2019 HSP survey open to participants

The 2019 HSP survey is now active for those with HSP. The focus is on: Medication for HSP Exercise and Relaxation Lifespace Tracking Your perspectives on a few issues You can find a link on the blog of Adam Lawrence: https://hspjourney.blogspot.com/2019/…/2019-survey-open.html You

Summary and abstracts of the 6th International Meeting on Spastic Paraparesis and Ataxia, September 20-21 2019 in Nice, France

The meeting organized by SPATAX, Erare PREPARE_Ataxia and Ataxia Study Group (ASG) on spastic paraparesis and ataxia in Nice (2019 September 20-21) gathered 160 scientists and patients from 21 countries from 4 continents. It followed a satellite workshop focused on recessive

Summary and abstracts of the 6th International Meeting on Spastic Paraparesis and Ataxia, September 20-21 2019 in Nice, France

The meeting organized by SPATAX, Erare PREPARE_Ataxia and Ataxia Study Group (ASG) on spastic paraparesis and ataxia in Nice (2019 September 20-21) gathered 160 scientists and patients from 21 countries from 4 continents. It followed a satellite workshop focused on recessive

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Join the international support group on spastic paraplegia

Diagnosed with HSP? Join an international support group dedicated to these diseases managed by EURORDIS – Rare Diseases Europe Hereditary Spastic Paraplegia (HSP) is a group of rare, inherited neurological disorders. Their primary symptoms are progressive spasticity and weakness of

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Join the international support group on spastic paraplegia

Diagnosed with HSP? Join an international support group dedicated to these diseases managed by EURORDIS – Rare Diseases Europe Hereditary Spastic Paraplegia (HSP) is a group of rare, inherited neurological disorders. Their primary symptoms are progressive spasticity and weakness of

6th International Meeting on Spastic Paraparesis and Ataxia, September 20-21 2019 in Nice (South of France)

(Satellite meeting of the international congress of Parkinson’s disease and Movement Disorders – MDS 2019, 22-26/9/2019) REGISTRATION (CLOSED) LINK to the summary, abstract book and photos of the meeting LOCATION: Acropolis – Palais des congrès et des expositions, Nice, France

6th International Meeting on Spastic Paraparesis and Ataxia, September 20-21 2019 in Nice (South of France)

(Satellite meeting of the international congress of Parkinson’s disease and Movement Disorders – MDS 2019, 22-26/9/2019) REGISTRATION (CLOSED) LINK to the summary, abstract book and photos of the meeting LOCATION: Acropolis – Palais des congrès et des expositions, Nice, France

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Priorité au diagnostic des maladies rares

Priorité au diagnostic des maladies rares   L’été dernier a été dévoilé le troisième plan national Maladies rares. Quelques mois plus tôt était lancé le projet européen Solve-RD, impliquant plusieurs équipes de l’INSERM. Très ambitieuses, ces deux actions ciblent une

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Priorité au diagnostic des maladies rares

Priorité au diagnostic des maladies rares   L’été dernier a été dévoilé le troisième plan national Maladies rares. Quelques mois plus tôt était lancé le projet européen Solve-RD, impliquant plusieurs équipes de l’INSERM. Très ambitieuses, ces deux actions ciblent une

Pr Alexis Brice received the Medal of Chevalier de la Legion d’Honneur

Congratulations to Pr Alexis BRICE, director of the Institut du Cerveau et de la Moelle épinière, who received the LEGION D’HONNEUR medal from Pr Pierre CORVOL this 28th of November 2018 at Collège de France, Paris.

Pr Alexis Brice received the Medal of Chevalier de la Legion d’Honneur

Congratulations to Pr Alexis BRICE, director of the Institut du Cerveau et de la Moelle épinière, who received the LEGION D’HONNEUR medal from Pr Pierre CORVOL this 28th of November 2018 at Collège de France, Paris.

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex by Parodi et al, Brain 2018

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex by Livia Parodi, Silvia Fenu, Mathieu Barbier, Guillaume Banneau, Charles Duyckaerts, Sophie Tezenas du Montcel, Marie-Lorraine Monin, Samia Ait Said, Justine Guegan, Chantal M E Tallaksen, Bertrand Sablonniere, Alexis Brice, Giovanni Stevanin, Christel Depienne, Alexandra Durr & the SPATAX network LINK

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex by Parodi et al, Brain 2018

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex by Livia Parodi, Silvia Fenu, Mathieu Barbier, Guillaume Banneau, Charles Duyckaerts, Sophie Tezenas du Montcel, Marie-Lorraine Monin, Samia Ait Said, Justine Guegan, Chantal M E Tallaksen, Bertrand Sablonniere, Alexis Brice, Giovanni Stevanin, Christel Depienne, Alexandra Durr & the SPATAX network LINK

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DANSE TO IMPROVE YOUR WELL-BEING even with ataxia or spasticity

Yes you can danse to improve your well-being even with ataxia or spastic paraplegia. Try this tutorial with videos of increasing difficulties and give your opinion on the web site.   By Lucy Vincent et Alexandra Durr (ICM, Pitié-Salpêtrière Hospital,

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DANSE TO IMPROVE YOUR WELL-BEING even with ataxia or spasticity

Yes you can danse to improve your well-being even with ataxia or spastic paraplegia. Try this tutorial with videos of increasing difficulties and give your opinion on the web site.   By Lucy Vincent et Alexandra Durr (ICM, Pitié-Salpêtrière Hospital,

A potential therapeutic target for spastic paraplegia 11 / amyotrophic lateral sclerosis 5

Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration By : Maxime Boutry, Julien Branchu, Celine Lustremant, Claire Pujol, Julie Pernelle, Raphael Matusiak, Alexandre Seyer, Marion Poirel, Emeline Chu-Van, Alexandre Pierga, Kostantin Dobrenis, Jean-Philippe Puech, Catherine

A potential therapeutic target for spastic paraplegia 11 / amyotrophic lateral sclerosis 5

Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration By : Maxime Boutry, Julien Branchu, Celine Lustremant, Claire Pujol, Julie Pernelle, Raphael Matusiak, Alexandre Seyer, Marion Poirel, Emeline Chu-Van, Alexandre Pierga, Kostantin Dobrenis, Jean-Philippe Puech, Catherine

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia by Newton et al, Brain 2018

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia By: Newton T, Allison R, Edgar JR, Lumb JH, Roger CE, Manna PT, Rizo T, Kohl Z, Nygren AOH, Arning L, Schule R, Depienne C, Goldberg

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia by Newton et al, Brain 2018

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia By: Newton T, Allison R, Edgar JR, Lumb JH, Roger CE, Manna PT, Rizo T, Kohl Z, Nygren AOH, Arning L, Schule R, Depienne C, Goldberg

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes by Coutelier et al, JAMA Neurol 2018

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes By: Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A,

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes by Coutelier et al, JAMA Neurol 2018

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes By: Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A,

ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia By Bouwkamp et al, Neurol Genet 2018

ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia By: Bouwkamp C, Afawi Z, Fattal-Valevski A, Krabbendam I, Rivetti S, Masalha R, Quadri M, Breedveld G, Mandel H, Abu Tailakh M, Beverloo B, Stevanin G, Brice A, Van Ijcken

ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia By Bouwkamp et al, Neurol Genet 2018

ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia By: Bouwkamp C, Afawi Z, Fattal-Valevski A, Krabbendam I, Rivetti S, Masalha R, Quadri M, Breedveld G, Mandel H, Abu Tailakh M, Beverloo B, Stevanin G, Brice A, Van Ijcken

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function   by Mendoza Ferreira N, Coutelier M, Janzen E, Hosseinibarkooie S, Lohr H, Schneider S, Milbradt J, Karakaya M, Riessland M, Pichlo C, Torres-Benito L, Singleton A, Zuchner

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function   by Mendoza Ferreira N, Coutelier M, Janzen E, Hosseinibarkooie S, Lohr H, Schneider S, Milbradt J, Karakaya M, Riessland M, Pichlo C, Torres-Benito L, Singleton A, Zuchner

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED by : Trimouille A, Obre E, Banneau G, Durr A, Stevanin G, Clot F, Pennamen P, Perez JT, Bailly-Scappaticci C, Rouanet M, Delleci C, Sole G, Mathis S, Goizet C.

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED by : Trimouille A, Obre E, Banneau G, Durr A, Stevanin G, Clot F, Pennamen P, Perez JT, Bailly-Scappaticci C, Rouanet M, Delleci C, Sole G, Mathis S, Goizet C.

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5, by Marelli et al, Brain 2017

Marelli C, Lamari F, Rainteau D, Lafourcade A, Banneau G, Humbert L, Monin ML, Petit E, Debs R, Castelnovo G, Ollagnon E, Lavie J, Pilliod J, Coupry I, Babin PJ, Guissart C, Benyounes I, Ullmann U, Lesca G, Thauvin-Robinet C,

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5, by Marelli et al, Brain 2017

Marelli C, Lamari F, Rainteau D, Lafourcade A, Banneau G, Humbert L, Monin ML, Petit E, Debs R, Castelnovo G, Ollagnon E, Lavie J, Pilliod J, Coupry I, Babin PJ, Guissart C, Benyounes I, Ullmann U, Lesca G, Thauvin-Robinet C,

Retinopathy and neurodegeneration with brain iron accumulation due to DDHD1 mutations, by Dard et al, Eur J Med Genet 2017

Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation by Rodolphe Dard, Claire Meyniel, Valérie Touitou, Giovanni Stevanin, Foudil Lamari, Alexandra Durr, Claire Ewenczyk and Fanny Mochel Defects of phospholipids remodelling and synthesis are inborn errors of metabolism responsible for various clinical presentations including spastic paraplegia, retinopathy, optic atrophy, myo- and cardiomyopathies,

Retinopathy and neurodegeneration with brain iron accumulation due to DDHD1 mutations, by Dard et al, Eur J Med Genet 2017

Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation by Rodolphe Dard, Claire Meyniel, Valérie Touitou, Giovanni Stevanin, Foudil Lamari, Alexandra Durr, Claire Ewenczyk and Fanny Mochel Defects of phospholipids remodelling and synthesis are inborn errors of metabolism responsible for various clinical presentations including spastic paraplegia, retinopathy, optic atrophy, myo- and cardiomyopathies,