SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias

NCT ID: NCT00140829

Last Updated: 2025-02-04

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 6000 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2004-02-10
• Study Completion Date: 2020-12-30

Brief Summary

Cerebellar ataxias (CA) and spastic paraplegias (SP) are genetically and clinically very heterogeneous. More than 40 loci are already known but the number of phenotypes is even greater suggesting further genetic heterogeneity. These progressive disorders are often severe and fatal, due to the absence of specific therapy. The SPATAX network combines the experience of European clinicians and scientists working on these groups of diseases. Over the past year, they have assembled the largest collection of families and achieved a number of tasks (initiation of a clinical and genetic database, distribution of DNA to participating laboratories, mapping of three new loci, and refinement of several loci). In addition to clinicians from Europe and Mediterranean countries, who play a major role in collecting families according to evaluation tools developed and validated by the SPATAX members, the group includes major European laboratories devoted to the elucidation of the molecular basis of these disorders. Each laboratory will centralize all families with a subtype of autosomal recessive (AR) CA (n=116) or SP (n=207) in order to efficiently map and identify the responsible gene(s). Genome-wide scans are already underway in 61 families. Given the expertise of the participants, the researchers expect to map and identify several genes during the course of this project. The spectrum of mutations and phenotype/genotype correlations will be analysed thanks to this unique series of patients with various phenotypes. The knowledge gained will be immediately applicable to patients in terms of improved positive diagnosis, follow-up and appropriate genetic counselling. In the long term, models for genetic entity will be developed in order to understand the pathophysiology and to identify new targets for treatment. The series of patients assembled and the precise knowledge of natural history will facilitate the implantation of therapeutic trials based on rational approaches.

Conditions

Cerebellar Ataxias; Spastic Paraplegias

Study Design

• Observational Model Type: FAMILY_BASED
• Study Time Perspective: PROSPECTIVE

Eligibility Criteria

Inclusion Criteria

• Progressive ataxia or paraplegia

Exclusion Criteria

• Lack of signed informed consent

• Minimum Eligible Age: 2 Years
• Maximum Eligible Age: 70 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Institut des Maladies Rares

UNKNOWN

Sponsor Role: collaborator

National Research Agency, France

OTHER

Sponsor Role: collaborator

Paris Brain Institute (ICM)

OTHER

Sponsor Role: collaborator

Institut National de la Santé Et de la Recherche Médicale, France

OTHER_GOV

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Alexandra Dürr, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Assistance Publique - Hôpitaux de Paris

Alessandro Filla, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Federico II University

André Mégarbané, MD

Role: PRINCIPAL_INVESTIGATOR

Université Saint-Joseph

Ali Benomar, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

CHU de Rabat

Christophe Verny, MD

Role: PRINCIPAL_INVESTIGATOR

University Hospital, Angers

Didier Hannequin, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Hôpitaux de Rouen

Diana Rodriguez, MD

Role: PRINCIPAL_INVESTIGATOR

Assistance Publique - Hôpitaux de Paris

Enrico Bertini, MD

Role: PRINCIPAL_INVESTIGATOR

Università de Roma

François Tison, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Hôpitaux de Bordeaux

Jorgen E Nielsen, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

The Panum Institute

Mustapha Salih, MD

Role: PRINCIPAL_INVESTIGATOR

College of Medicine and KKUH

Miriem Tazir, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Université d'Alger

Nicholas W Wood, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Institute of Neurology

Odile Boespflug-Tanguy, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Hôpitaux de Clermont-Ferrand

Jean-Philippe Azulay, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Assistance Publique - Hôpitaux de Marseille

Paula Coutinho, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Universidade do Porto

Pierre Labauge, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Hôpitaux de Nîmes

Pierre Pollak, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Hôpitaux de Grenoble

Thomas T Warner, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

University College, London

Alexander Lossos, MD

Role: PRINCIPAL_INVESTIGATOR

Hadassah-Hebrew University Hospital

Cyril Goizet, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Hôpital Pellegrin

Patrick Calvas, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Hôpital Purpan

Berry Kremer, MD

Role: PRINCIPAL_INVESTIGATOR

Radboud University Medical Center

Vladimir Kostic, MD

Role: PRINCIPAL_INVESTIGATOR

Clinical Centre of Serbia

Chokri Mhiri, MD

Role: PRINCIPAL_INVESTIGATOR

Hôpital Habib Bourguiba

Massimo Pandolfo, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Université Libre de Bruxelles - Hôpital Erasme

Jorge Sequeiros, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Universidade do Porto

Chantal ME Tallaksen, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Ullevaal University Hospital

Locations

CHU Mustapha

Algiers, , Algeria

Université Libre de Bruxelles - Hôpital Erasme

Brussels, , Belgium

The Panum Institute

Copenhagen, , Denmark

CHU d'Angers

Angers, , France

Hôpital Pellegrin

Bordeaux, , France

Hôpitaux de Clermont-Ferrand

Clermont-Ferrand, , France

CHU

Grenoble, , France

Hôpital de la Timone

Marseille, , France

Hôpital Carémeau

Nîmes, , France

Hôpital Armand Trousseau

Paris, , France

Pitié-Salpêtrière Hospital

Paris, , France

Hôpital Charles Nicolle

Rouen, , France

Hôpital Purpan

Toulouse, , France

Hadassah-Hebrew University Hospital

Jerusalem, , Israel

Dipartimento Di Scienze Neurologiche

Napoli, , Italy

Molecular Medicine and Department of Neurosciences

Roma, , Italy

Université Saint-Joseph

Beirut, , Lebanon

CHU de Rabat

Rabat, , Morocco

Radboud University Nijmegen Medical Centre

Nijmegen, , Netherlands

Ullevål University Hospital

Oslo, , Norway

University of Porto

Porto, , Portugal

Hospital San Sebastião

Santa Maria da Feira, , Portugal

King Khalid University Hospital

Riyadh, , Saudi Arabia

Clinical Centre of Serbia

Belgrade, , Serbia

Hôpital Habib Bourguiba

Sfax, , Tunisia

Royal Free and University College Medical School

London, , United Kingdom

The National Hospital

London, , United Kingdom

Countries

Algeria; Belgium; Denmark; France; Israel; Italy; Lebanon; Morocco; Netherlands; Norway; Portugal; Saudi Arabia; Serbia; Tunisia; United Kingdom

References

Moreira MC, Klur S, Watanabe M, Nemeth AH, Le Ber I, Moniz JC, Tranchant C, Aubourg P, Tazir M, Schols L, Pandolfo M, Schulz JB, Pouget J, Calvas P, Shizuka-Ikeda M, Shoji M, Tanaka M, Izatt L, Shaw CE, M'Zahem A, Dunne E, Bomont P, Benhassine T, Bouslam N, Stevanin G, Brice A, Guimaraes J, Mendonca P, Barbot C, Coutinho P, Sequeiros J, Durr A, Warter JM, Koenig M. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet. 2004 Mar;36(3):225-7. doi: 10.1038/ng1303. Epub 2004 Feb 8.

Reference Type: BACKGROUND

PMID: 14770181 (View on PubMed)

Le Ber I, Bouslam N, Rivaud-Pechoux S, Guimaraes J, Benomar A, Chamayou C, Goizet C, Moreira MC, Klur S, Yahyaoui M, Agid Y, Koenig M, Stevanin G, Brice A, Durr A. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain. 2004 Apr;127(Pt 4):759-67. doi: 10.1093/brain/awh080. Epub 2004 Jan 21.

Reference Type: BACKGROUND

PMID: 14736755 (View on PubMed)

Le Ber I, Moreira MC, Rivaud-Pechoux S, Chamayou C, Ochsner F, Kuntzer T, Tardieu M, Said G, Habert MO, Demarquay G, Tannier C, Beis JM, Brice A, Koenig M, Durr A. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain. 2003 Dec;126(Pt 12):2761-72. doi: 10.1093/brain/awg283. Epub 2003 Sep 23.

Reference Type: BACKGROUND

PMID: 14506070 (View on PubMed)

Le Ber I, Camuzat A, Castelnovo G, Azulay JP, Genton P, Gastaut JL, Broglin D, Labauge P, Brice A, Durr A. Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxia. Arch Neurol. 2003 Aug;60(8):1097-9. doi: 10.1001/archneur.60.8.1097.

Reference Type: BACKGROUND

PMID: 12925365 (View on PubMed)

Bouslam N, Benomar A, Azzedine H, Bouhouche A, Namekawa M, Klebe S, Charon C, Durr A, Ruberg M, Brice A, Yahyaoui M, Stevanin G. Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). Ann Neurol. 2005 Apr;57(4):567-71. doi: 10.1002/ana.20416.

Reference Type: BACKGROUND

PMID: 15786464 (View on PubMed)

Durr A, Camuzat A, Colin E, Tallaksen C, Hannequin D, Coutinho P, Fontaine B, Rossi A, Gil R, Rousselle C, Ruberg M, Stevanin G, Brice A. Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch Neurol. 2004 Dec;61(12):1867-72. doi: 10.1001/archneur.61.12.1867.

Reference Type: BACKGROUND

PMID: 15596607 (View on PubMed)

Stevanin G, Durr A, Dussert C, Penet C, Brice A. Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians. Neurology. 2004 Sep 14;63(5):936. doi: 10.1212/01.wnl.0000137020.30604.1e. No abstract available.

Reference Type: BACKGROUND

PMID: 15365159 (View on PubMed)

Stevanin G, Hahn V, Lohmann E, Bouslam N, Gouttard M, Soumphonphakdy C, Welter ML, Ollagnon-Roman E, Lemainque A, Ruberg M, Brice A, Durr A. Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. Arch Neurol. 2004 Aug;61(8):1242-8. doi: 10.1001/archneur.61.8.1242.

Reference Type: BACKGROUND

PMID: 15313841 (View on PubMed)

Stevanin G, Bouslam N, Thobois S, Azzedine H, Ravaux L, Boland A, Schalling M, Broussolle E, Durr A, Brice A. Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p. Ann Neurol. 2004 Jan;55(1):97-104. doi: 10.1002/ana.10798.

Reference Type: BACKGROUND

PMID: 14705117 (View on PubMed)

Tallaksen CM, Guichart-Gomez E, Verpillat P, Hahn-Barma V, Ruberg M, Fontaine B, Brice A, Dubois B, Durr A. Subtle cognitive impairment but no dementia in patients with spastin mutations. Arch Neurol. 2003 Aug;60(8):1113-8. doi: 10.1001/archneur.60.8.1113.

Reference Type: BACKGROUND

PMID: 12925368 (View on PubMed)

Fernet M, Gribaa M, Salih MA, Seidahmed MZ, Hall J, Koenig M. Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. Hum Mol Genet. 2005 Jan 15;14(2):307-18. doi: 10.1093/hmg/ddi027. Epub 2004 Dec 1.

Reference Type: BACKGROUND

PMID: 15574463 (View on PubMed)

Stevanin G, Durr A, Benammar N, Brice A. Spinocerebellar ataxia with mental retardation (SCA13). Cerebellum. 2005;4(1):43-6. doi: 10.1080/14734220510007923.

Reference Type: BACKGROUND

PMID: 15895558 (View on PubMed)

Stevanin G, Broussolle E, Streichenberger N, Kopp N, Brice A, Durr A. Spinocerebellar ataxia with sensory neuropathy (SCA25). Cerebellum. 2005;4(1):58-61. doi: 10.1080/14734220510007932.

Reference Type: BACKGROUND

PMID: 15895562 (View on PubMed)

Klebe S, Durr A, Rentschler A, Hahn-Barma V, Abele M, Bouslam N, Schols L, Jedynak P, Forlani S, Denis E, Dussert C, Agid Y, Bauer P, Globas C, Wullner U, Brice A, Riess O, Stevanin G. New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. Ann Neurol. 2005 Nov;58(5):720-9. doi: 10.1002/ana.20628.

Reference Type: BACKGROUND

PMID: 16193476 (View on PubMed)

Latouche M, Fragner P, Martin E, El Hachimi KH, Zander C, Sittler A, Ruberg M, Brice A, Stevanin G. Polyglutamine and polyalanine expansions in ataxin7 result in different types of aggregation and levels of toxicity. Mol Cell Neurosci. 2006 Mar;31(3):438-45. doi: 10.1016/j.mcn.2005.10.013. Epub 2005 Dec 1.

Reference Type: BACKGROUND

PMID: 16325416 (View on PubMed)

Namekawa M, Ribai P, Nelson I, Forlani S, Fellmann F, Goizet C, Depienne C, Stevanin G, Ruberg M, Durr A, Brice A. SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Neurology. 2006 Jan 10;66(1):112-4. doi: 10.1212/01.wnl.0000191390.20564.8e.

Reference Type: BACKGROUND

PMID: 16401858 (View on PubMed)

van de Warrenburg BP, Hendriks H, Durr A, van Zuijlen MC, Stevanin G, Camuzat A, Sinke RJ, Brice A, Kremer BP. Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort. Ann Neurol. 2005 Apr;57(4):505-12. doi: 10.1002/ana.20424.

Reference Type: BACKGROUND

PMID: 15747371 (View on PubMed)

Biancalana V, Toft M, Le Ber I, Tison F, Scherrer E, Thibodeau S, Mandel JL, Brice A, Farrer MJ, Durr A. FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy. Arch Neurol. 2005 Jun;62(6):962-6. doi: 10.1001/archneur.62.6.962.

Reference Type: BACKGROUND

PMID: 15956167 (View on PubMed)

Ribaï P, Stevanin G, Trefouret S, Nelson I, Soumphonphakdy C, Pouget J, Dürr A, Brice A. Extension of the SPG26 phenotype in a Spanish family and refinement of its locus on chromosome 12. Eletter, Journal of Medical Genetics 42(1):80-82, 2005.

Reference Type: BACKGROUND

Elleuch N, Depienne C, Benomar A, Hernandez AM, Ferrer X, Fontaine B, Grid D, Tallaksen CM, Zemmouri R, Stevanin G, Durr A, Brice A. Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. Neurology. 2006 Mar 14;66(5):654-9. doi: 10.1212/01.wnl.0000201185.91110.15.

Reference Type: BACKGROUND

PMID: 16534102 (View on PubMed)

Le Ber I, Rivaud-Pechoux S, Brice A, Durr A. [Autosomal recessive cerebellar ataxias with oculomotor apraxia]. Rev Neurol (Paris). 2006 Feb;162(2):177-84. doi: 10.1016/s0035-3787(06)74997-9. French.

Reference Type: BACKGROUND

PMID: 16518257 (View on PubMed)

Namekawa M, Nelson I, Ribai P, Durr A, Denis E, Stevanin G, Ruberg M, Brice A. A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene. Neurogenetics. 2006 May;7(2):131-2. doi: 10.1007/s10048-006-0028-2. Epub 2006 Apr 13. No abstract available.

Reference Type: BACKGROUND

PMID: 16612642 (View on PubMed)

Lossos A, Stevanin G, Meiner V, Argov Z, Bouslam N, Newman JP, Gomori JM, Klebe S, Lerer I, Elleuch N, Silverstein S, Durr A, Abramsky O, Ben-Nariah Z, Brice A. Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity. Arch Neurol. 2006 May;63(5):756-60. doi: 10.1001/archneur.63.5.756.

Reference Type: BACKGROUND

PMID: 16682547 (View on PubMed)

Klebe S, Azzedine H, Durr A, Bastien P, Bouslam N, Elleuch N, Forlani S, Charon C, Koenig M, Melki J, Brice A, Stevanin G. Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. Brain. 2006 Jun;129(Pt 6):1456-62. doi: 10.1093/brain/awl012. Epub 2006 Jan 24.

Reference Type: BACKGROUND

PMID: 16434418 (View on PubMed)

Ribai P, Stevanin G, Bouslam N, Pontier B, Nelson I, Fontaine B, Dussert C, Charon C, Durr A, Brice A. A new phenotype linked to SPG27 and refinement of the critical region on chromosome. J Neurol. 2006 Jun;253(6):714-9. doi: 10.1007/s00415-006-0094-2. Epub 2006 Mar 6.

Reference Type: BACKGROUND

PMID: 16511635 (View on PubMed)

Le Ber I, Clot F, Vercueil L, Camuzat A, Viemont M, Benamar N, De Liege P, Ouvrard-Hernandez AM, Pollak P, Stevanin G, Brice A, Durr A. Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia. Neurology. 2006 Nov 28;67(10):1769-73. doi: 10.1212/01.wnl.0000244484.60489.50.

Reference Type: BACKGROUND

PMID: 17130408 (View on PubMed)

Stevanin G, Montagna G, Azzedine H, Valente EM, Durr A, Scarano V, Bouslam N, Cassandrini D, Denora PS, Criscuolo C, Belarbi S, Orlacchio A, Jonveaux P, Silvestri G, Hernandez AM, De Michele G, Tazir M, Mariotti C, Brockmann K, Malandrini A, van der Knapp MS, Neri M, Tonekaboni H, Melone MA, Tessa A, Dotti MT, Tosetti M, Pauri F, Federico A, Casali C, Cruz VT, Loureiro JL, Zara F, Forlani S, Bertini E, Coutinho P, Filla A, Brice A, Santorelli FM. Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. Neurogenetics. 2006 Jul;7(3):149-56. doi: 10.1007/s10048-006-0044-2. Epub 2006 May 13.

Reference Type: BACKGROUND

PMID: 16699786 (View on PubMed)

Klebe S, Lacour A, Durr A, Stojkovic T, Depienne C, Forlani S, Poea-Guyon S, Vuillaume I, Sablonniere B, Vermersch P, Brice A, Stevanin G. NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe. Neurogenetics. 2007 Apr;8(2):155-7. doi: 10.1007/s10048-006-0074-9. Epub 2007 Jan 5. No abstract available.

Reference Type: BACKGROUND

PMID: 17205300 (View on PubMed)

Bouslam N, Bouhouche A, Benomar A, Hanein S, Klebe S, Azzedine H, Di Giandomenico S, Boland-Auge A, Santorelli FM, Durr A, Brice A, Yahyaoui M, Stevanin G. A novel locus for autosomal recessive spastic ataxia on chromosome 17p. Hum Genet. 2007 May;121(3-4):413-20. doi: 10.1007/s00439-007-0328-0. Epub 2007 Feb 2.

Reference Type: BACKGROUND

PMID: 17273843 (View on PubMed)

Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT, Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, Bertini E, Durr A, Brice A. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet. 2007 Mar;39(3):366-72. doi: 10.1038/ng1980. Epub 2007 Feb 18.

Reference Type: BACKGROUND

PMID: 17322883 (View on PubMed)

Latouche M, Lasbleiz C, Martin E, Monnier V, Debeir T, Mouatt-Prigent A, Muriel MP, Morel L, Ruberg M, Brice A, Stevanin G, Tricoire H. A conditional pan-neuronal Drosophila model of spinocerebellar ataxia 7 with a reversible adult phenotype suitable for identifying modifier genes. J Neurosci. 2007 Mar 7;27(10):2483-92. doi: 10.1523/JNEUROSCI.5453-06.2007.

Reference Type: BACKGROUND

PMID: 17344386 (View on PubMed)

Klebe S, Durr A, Bouslam N, Grid D, Paternotte C, Depienne C, Hanein S, Bouhouche A, Elleuch N, Azzedine H, Poea-Guyon S, Forlani S, Denis E, Charon C, Hazan J, Brice A, Stevanin G. Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description. Am J Med Genet B Neuropsychiatr Genet. 2007 Oct 5;144B(7):854-61. doi: 10.1002/ajmg.b.30518.

Reference Type: BACKGROUND

PMID: 17503452 (View on PubMed)

Stevanin G, Paternotte C, Coutinho P, Klebe S, Elleuch N, Loureiro JL, Denis E, Cruz VT, Durr A, Prud'homme JF, Weissenbach J, Brice A, Hazan J. A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21. Neurology. 2007 May 22;68(21):1837-40. doi: 10.1212/01.wnl.0000262043.53386.22.

Reference Type: BACKGROUND

PMID: 17515546 (View on PubMed)

Namekawa M, Muriel MP, Janer A, Latouche M, Dauphin A, Debeir T, Martin E, Duyckaerts C, Prigent A, Depienne C, Sittler A, Brice A, Ruberg M. Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis. Mol Cell Neurosci. 2007 May;35(1):1-13. doi: 10.1016/j.mcn.2007.01.012. Epub 2007 Jan 26.

Reference Type: BACKGROUND

PMID: 17321752 (View on PubMed)

Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, Rosa AL, Lerer I, Hamri A, Alegria P, Loureiro J, Tada M, Hannequin D, Anheim M, Goizet C, Gonzalez-Martinez V, Le Ber I, Forlani S, Iwabuchi K, Meiner V, Uyanik G, Erichsen AK, Feki I, Pasquier F, Belarbi S, Cruz VT, Depienne C, Truchetto J, Garrigues G, Tallaksen C, Tranchant C, Nishizawa M, Vale J, Coutinho P, Santorelli FM, Mhiri C, Brice A, Durr A; SPATAX consortium. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain. 2008 Mar;131(Pt 3):772-84. doi: 10.1093/brain/awm293. Epub 2007 Dec 13.

Reference Type: BACKGROUND

PMID: 18079167 (View on PubMed)

Boukhris A, Feki I, Denis E, Miladi MI, Brice A, Mhiri C, Stevanin G. Spastic paraplegia 15: linkage and clinical description of three Tunisian families. Mov Disord. 2008 Feb 15;23(3):429-33. doi: 10.1002/mds.21848.

Reference Type: BACKGROUND

PMID: 18098276 (View on PubMed)

Boukhris A, Stevanin G, Feki I, Denis E, Elleuch N, Miladi MI, Truchetto J, Denora P, Belal S, Mhiri C, Brice A. Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity. Arch Neurol. 2008 Mar;65(3):393-402. doi: 10.1001/archneur.65.3.393.

Reference Type: BACKGROUND

PMID: 18332254 (View on PubMed)

Hanein S, Martin E, Boukhris A, Byrne P, Goizet C, Hamri A, Benomar A, Lossos A, Denora P, Fernandez J, Elleuch N, Forlani S, Durr A, Feki I, Hutchinson M, Santorelli FM, Mhiri C, Brice A, Stevanin G. Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet. 2008 Apr;82(4):992-1002. doi: 10.1016/j.ajhg.2008.03.004.

Reference Type: BACKGROUND

PMID: 18394578 (View on PubMed)

Denora PS, Schlesinger D, Casali C, Kok F, Tessa A, Boukhris A, Azzedine H, Dotti MT, Bruno C, Truchetto J, Biancheri R, Fedirko E, Di Rocco M, Bueno C, Malandrini A, Battini R, Sickl E, de Leva MF, Boespflug-Tanguy O, Silvestri G, Simonati A, Said E, Ferbert A, Criscuolo C, Heinimann K, Modoni A, Weber P, Palmeri S, Plasilova M, Pauri F, Cassandrini D, Battisti C, Pini A, Tosetti M, Hauser E, Masciullo M, Di Fabio R, Piccolo F, Denis E, Cioni G, Massa R, Della Giustina E, Calabrese O, Melone MA, De Michele G, Federico A, Bertini E, Durr A, Brockmann K, van der Knaap MS, Zatz M, Filla A, Brice A, Stevanin G, Santorelli FM. Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Hum Mutat. 2009 Mar;30(3):E500-19. doi: 10.1002/humu.20945.

Reference Type: BACKGROUND

PMID: 19105190 (View on PubMed)

Denora PS, Muglia M, Casali C, Truchetto J, Silvestri G, Messina D, Boukrhis A, Magariello A, Modoni A, Masciullo M, Malandrini A, Morelli M, de Leva MF, Villanova M, Giugni E, Citrigno L, Rizza T, Federico A, Pierallini A, Quattrone A, Filla A, Brice A, Stevanin G, Santorelli FM. Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population. J Neurol Sci. 2009 Feb 15;277(1-2):22-5. doi: 10.1016/j.jns.2008.09.039. Epub 2008 Dec 13.

Reference Type: BACKGROUND

PMID: 19084844 (View on PubMed)

Boukhris A, Stevanin G, Feki I, Denora P, Elleuch N, Miladi MI, Goizet C, Truchetto J, Belal S, Brice A, Mhiri C. Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity. Clin Genet. 2009 Jun;75(6):527-36. doi: 10.1111/j.1399-0004.2009.01176.x. Epub 2009 May 5.

Reference Type: BACKGROUND

PMID: 19438933 (View on PubMed)

Anheim M, Lagier-Tourenne C, Stevanin G, Fleury M, Durr A, Namer IJ, Denora P, Brice A, Mandel JL, Koenig M, Tranchant C. SPG11 spastic paraplegia. A new cause of juvenile parkinsonism. J Neurol. 2009 Jan;256(1):104-8. doi: 10.1007/s00415-009-0083-3. Epub 2009 Feb 9.

Reference Type: BACKGROUND

PMID: 19224311 (View on PubMed)

Goizet C, Boukhris A, Durr A, Beetz C, Truchetto J, Tesson C, Tsaousidou M, Forlani S, Guyant-Marechal L, Fontaine B, Guimaraes J, Isidor B, Chazouilleres O, Wendum D, Grid D, Chevy F, Chinnery PF, Coutinho P, Azulay JP, Feki I, Mochel F, Wolf C, Mhiri C, Crosby A, Brice A, Stevanin G. CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. Brain. 2009 Jun;132(Pt 6):1589-600. doi: 10.1093/brain/awp073. Epub 2009 May 12.

Reference Type: BACKGROUND

PMID: 19439420 (View on PubMed)

Goizet C, Boukhris A, Maltete D, Guyant-Marechal L, Truchetto J, Mundwiller E, Hanein S, Jonveaux P, Roelens F, Loureiro J, Godet E, Forlani S, Melki J, Auer-Grumbach M, Fernandez JC, Martin-Hardy P, Sibon I, Sole G, Orignac I, Mhiri C, Coutinho P, Durr A, Brice A, Stevanin G. SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. Neurology. 2009 Oct 6;73(14):1111-9. doi: 10.1212/WNL.0b013e3181bacf59.

Reference Type: BACKGROUND

PMID: 19805727 (View on PubMed)

Anheim M, Monga B, Fleury M, Charles P, Barbot C, Salih M, Delaunoy JP, Fritsch M, Arning L, Synofzik M, Schols L, Sequeiros J, Goizet C, Marelli C, Le Ber I, Koht J, Gazulla J, De Bleecker J, Mukhtar M, Drouot N, Ali-Pacha L, Benhassine T, Chbicheb M, M'Zahem A, Hamri A, Chabrol B, Pouget J, Murphy R, Watanabe M, Coutinho P, Tazir M, Durr A, Brice A, Tranchant C, Koenig M. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain. 2009 Oct;132(Pt 10):2688-98. doi: 10.1093/brain/awp211. Epub 2009 Aug 20.

Reference Type: BACKGROUND

PMID: 19696032 (View on PubMed)

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Related Info

Other Identifiers

DGS2005/003

Identifier Type: REGISTRY

Identifier Source: secondary_id

RBM01-29

Identifier Type: -

Identifier Source: org_study_id