Autosomal Dominant MPAN: Mosaicism Expands the ClinicalSpectrum to Atypical Late-Onset Phenotypes
Angelini et al, Movement Disorders 2023 (published online 22 august ) ABSTRACT: Background: Mitochondrial membrane protein-associated neurodegeneration (MPAN) is caused by mutations in the C19orf12 gene. MPAN typically appears in the first two decades of life and presents with progressive
Autosomal Dominant MPAN: Mosaicism Expands the ClinicalSpectrum to Atypical Late-Onset Phenotypes
Angelini et al, Movement Disorders 2023 (published online 22 august ) ABSTRACT: Background: Mitochondrial membrane protein-associated neurodegeneration (MPAN) is caused by mutations in the C19orf12 gene. MPAN typically appears in the first two decades of life and presents with progressive
2nd international Symposium on BPAN in Bordeaux in May 2023.
2nd international Symposium on BPAN in Bordeaux in May 2023. This symposium will bring together patient associations, scientific and medical experts to share the latest research in the field and to foster networking opportunities on BPAN disease research. BPAN is
2nd international Symposium on BPAN in Bordeaux in May 2023.
2nd international Symposium on BPAN in Bordeaux in May 2023. This symposium will bring together patient associations, scientific and medical experts to share the latest research in the field and to foster networking opportunities on BPAN disease research. BPAN is
CNS-associated T-lymphocytes in a mouse model of Hereditary Spastic Paraplegia type 11 by Horner et al, Exp Neurol 2022
Hörner M, Groh J, Klein D, Ilg W, Schöls L, Santos SD, Bergmann A, Klebe S, Cauhape M, Branchu J, El Hachimi KH, Stevanin G, Darios F, Martini R. CNS-associated T-lymphocytes in a mouse model of Hereditary Spastic Paraplegia type
CNS-associated T-lymphocytes in a mouse model of Hereditary Spastic Paraplegia type 11 by Horner et al, Exp Neurol 2022
Hörner M, Groh J, Klein D, Ilg W, Schöls L, Santos SD, Bergmann A, Klebe S, Cauhape M, Branchu J, El Hachimi KH, Stevanin G, Darios F, Martini R. CNS-associated T-lymphocytes in a mouse model of Hereditary Spastic Paraplegia type
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4 by Parodi et al, Genet Med 2022
Parodi L, Barbier M, Jacoupy M, Pujol C, Lejeune FX, Lallemant-Dudek P, Esteves T, Pennings M, Kamsteeg EJ, Guillaud-Bataille M, Banneau G, Coarelli G, Mohand Oumoussa B, Fraidakis MJ, Stevanin G, Depienne C, van de Warrenburg B, Brice A, Dur
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4 by Parodi et al, Genet Med 2022
Parodi L, Barbier M, Jacoupy M, Pujol C, Lejeune FX, Lallemant-Dudek P, Esteves T, Pennings M, Kamsteeg EJ, Guillaud-Bataille M, Banneau G, Coarelli G, Mohand Oumoussa B, Fraidakis MJ, Stevanin G, Depienne C, van de Warrenburg B, Brice A, Dur
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia. Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noël L, Deconinck T, Vural A,
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia. Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noël L, Deconinck T, Vural A,
NPTX1 mutations cause autosomal dominant cerebellar ataxia
Coutelier M, Jacoupy M, Janer A, Renaud F, Auger N, Saripella GV, Ancien F, Pucci F, Rooman M, Gilis D, Larivière R, Sgarioto N, Valter R, Guillot-Noel L, Le Ber I, Sayah S, Charles P, Nümann A, Pauly MG, Helmchen
NPTX1 mutations cause autosomal dominant cerebellar ataxia
Coutelier M, Jacoupy M, Janer A, Renaud F, Auger N, Saripella GV, Ancien F, Pucci F, Rooman M, Gilis D, Larivière R, Sgarioto N, Valter R, Guillot-Noel L, Le Ber I, Sayah S, Charles P, Nümann A, Pauly MG, Helmchen
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Zurek B, Ellwanger K, Vissers LELM, Schule R, Synofzik M, Topf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, t’Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Zurek B, Ellwanger K, Vissers LELM, Schule R, Synofzik M, Topf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, t’Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
Matalonga L, Hernandez-Ferrer C, Piscia D, Solve-RD-indel working group, Schule R, Synofzik M, Topf A, Vissers LELM,de Voer R, Solve-RD DIFT-GENTURIS, Solve-RD DIFT-ITHACA, Solve-RD DIFT-euroNMD, Solve-RD DIFT-RND, Tonda R, Laurie S, Fernandez-Callejo M, Pico D, Garcia-Linares C, Papakonstantinou A, Corvo
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
Matalonga L, Hernandez-Ferrer C, Piscia D, Solve-RD-indel working group, Schule R, Synofzik M, Topf A, Vissers LELM,de Voer R, Solve-RD DIFT-GENTURIS, Solve-RD DIFT-ITHACA, Solve-RD DIFT-euroNMD, Solve-RD DIFT-RND, Tonda R, Laurie S, Fernandez-Callejo M, Pico D, Garcia-Linares C, Papakonstantinou A, Corvo
Solving unsolved rare neurological diseases—a Solve-RD viewpoint
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M, Solve-RD-DIFT-RND, de Warrenburg B, Schols L, Wilke C, Bevot A, Zuchner S, Bltran S, Laurie S, Matalonga L, Graessner H, Synofzik M & the Solve-RD consortium. Eur J Hum Genet 2021 SUMMARY:
Solving unsolved rare neurological diseases—a Solve-RD viewpoint
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M, Solve-RD-DIFT-RND, de Warrenburg B, Schols L, Wilke C, Bevot A, Zuchner S, Bltran S, Laurie S, Matalonga L, Graessner H, Synofzik M & the Solve-RD consortium. Eur J Hum Genet 2021 SUMMARY:
Increasing involvement of CAPN1 variants in spastic ataxias
by Méreaux J, Firanescu C, Coarelli G, Kvarnung M, Rodrigues R, Pegoraro E, Tazir M, Taithe F, Valter R, Huin V, Lidström K, Banneau G, Morais S, Parodi L, Coutelier M, Svenningsson P, Azulay J, Alonso I, Nilsson D, Brice
Increasing involvement of CAPN1 variants in spastic ataxias
by Méreaux J, Firanescu C, Coarelli G, Kvarnung M, Rodrigues R, Pegoraro E, Tazir M, Taithe F, Valter R, Huin V, Lidström K, Banneau G, Morais S, Parodi L, Coutelier M, Svenningsson P, Azulay J, Alonso I, Nilsson D, Brice
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
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
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
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/
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
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
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
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
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
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
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.
SPATAX Network : Clinical and Genetic Analysis of Spastic paraplegia and Ataxia 