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dc.contributor.author
Stevanin, Giovanni
dc.contributor.author
Azzedine, Hamid
dc.contributor.author
Denora, Paola
dc.contributor.author
Boukhris, Amir
dc.contributor.author
Tazir, Meriem
dc.contributor.author
Lossos, Alexander
dc.contributor.author
Rosa, Alberto Luis
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dc.contributor.author
Lerer, Israela
dc.contributor.author
Hamri, Abdelmadjid
dc.contributor.author
Alegria, Paulo
dc.contributor.author
Loureiro, José
dc.contributor.author
Tada, Masayoshi
dc.contributor.author
Hannequin, Didier
dc.contributor.author
Anheim, Mathieu
dc.contributor.author
Goizet, Cyril
dc.contributor.author
Gonzalez Martinez, Victoria
dc.contributor.author
Le Ber, Isabelle
dc.contributor.author
Forlani, Sylvie
dc.contributor.author
Iwabuchi, Kiyoshi
dc.contributor.author
Meiner, Vardiela
dc.contributor.author
Uyanik, Goekhan
dc.contributor.author
Erichsen, Anne Kjersti
dc.contributor.author
Feki, Imed
dc.contributor.author
Pasquier, Florence
dc.contributor.author
Belarbi, Soreya
dc.contributor.author
Cruz, Vitor T.
dc.contributor.author
Depienne, Christel
dc.contributor.author
Truchetto, Jeremy
dc.contributor.author
Garrigues, Guillaume
dc.contributor.author
Tallaksen, Chantal
dc.contributor.author
Tranchant, Christine
dc.contributor.author
Nishizawa, Masatoyo
dc.contributor.author
Vale, José
dc.contributor.author
Coutinho, Paula
dc.contributor.author
Santorelli, Filippo M.
dc.contributor.author
Mhiri, Chokri
dc.contributor.author
Brice, Alexis
dc.contributor.author
Durr, Alexandra
dc.date.available
2024-08-05T13:12:43Z
dc.date.issued
2008-01
dc.identifier.citation
Stevanin, Giovanni; Azzedine, Hamid; Denora, Paola; Boukhris, Amir; Tazir, Meriem; et al.; Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration; Oxford University Press; Brain; 131; 3; 1-2008; 772-784
dc.identifier.issn
0006-8950
dc.identifier.uri
http://hdl.handle.net/11336/241713
dc.description.abstract
Hereditary spastic paraplegias (HSP) are neurodegenerative diseases mainly characterized by lower limb spasticity associated, in complicated forms, with additional neurological signs. We have analysed a large series of index patients (n = 76) with this condition, either from families with an autosomal recessive inheritance (n = 43) or isolated patients (n = 33), for mutations in the recently identified SPG11 gene. We found 22 truncating mutations, including the first four splice-site mutations, segregating in seven isolated cases and 13 families. Nineteen mutations were novel. Two recurrent mutations were found in Portuguese and North-African patients indicating founder effects in these populations. The mutation frequency varied according to the phenotype, from 41%, in HSP patients presenting with a thin corpus callosum (TCC) visualized by MRI, to 4.5%, in patients with mental impairment without a TCC. Disease onset occurred during the first to the third decade mainly by problems with gait and/or mental retardation. After a mean disease duration of 14.9 ± 6.6 years, the phenotype of 38 SPG11 patients was severe with 53% of patients wheelchair bound or bedridden. In addition to mental retardation, 80% of the patients showed cognitive decline with executive dysfunction. Interestingly, the phenotype also frequently included lower motor neuron degeneration (81%) with wasting (53%). Slight ocular cerebellar signs were also noted in patients with long disease durations. In addition to a TCC (95%), brain MRI revealed white matter alterations (69%) and cortical atrophy (81%), which worsened with disease duration. In conclusion, our study reveals the high frequency of SPG11 mutations in patients with HSP, a TCC and cognitive impairment, including in isolated patients, and extends the associated phenotype.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Oxford University Press
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dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
spastic paraplegias
dc.subject
SPG11
dc.subject
thin corpus callosum
dc.subject
lower motor neuron degeneration
dc.subject.classification
Neurología Clínica
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dc.subject.classification
Medicina Clínica
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dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
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dc.title
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2024-07-25T14:32:11Z
dc.journal.volume
131
dc.journal.number
3
dc.journal.pagination
772-784
dc.journal.pais
Reino Unido
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dc.journal.ciudad
Oxford
dc.description.fil
Fil: Stevanin, Giovanni. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Azzedine, Hamid. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Denora, Paola. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Boukhris, Amir. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Tazir, Meriem. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Lossos, Alexander. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Rosa, Alberto Luis. Inserm; Francia. Université Pierre et Marie Curie; Francia. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.description.fil
Fil: Lerer, Israela. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Hamri, Abdelmadjid. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Alegria, Paulo. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Loureiro, José. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Tada, Masayoshi. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Hannequin, Didier. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Anheim, Mathieu. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Goizet, Cyril. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Gonzalez Martinez, Victoria. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Le Ber, Isabelle. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Forlani, Sylvie. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Iwabuchi, Kiyoshi. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Meiner, Vardiela. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Uyanik, Goekhan. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Erichsen, Anne Kjersti. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Feki, Imed. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Pasquier, Florence. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Belarbi, Soreya. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Cruz, Vitor T.. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Depienne, Christel. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Truchetto, Jeremy. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Garrigues, Guillaume. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Tallaksen, Chantal. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Tranchant, Christine. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Nishizawa, Masatoyo. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Vale, José. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Coutinho, Paula. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Santorelli, Filippo M.. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Mhiri, Chokri. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Brice, Alexis. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.description.fil
Fil: Durr, Alexandra. Inserm; Francia. Université Pierre et Marie Curie; Francia
dc.journal.title
Brain
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dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1093/brain/awm293
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/brain/article/131/3/772/315139
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