Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization-Reference-Cited by-同舟云学术

Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization

Published:2008-09-12 Issue:1 Volume:10 Page:43-48
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Bauer Peter,Winner Beate,Schüle Rebecca,Bauer Claudia,Häfele Veronika,Hehr Ute,Bonin Michael,Walter Michael,Karle Kathrin,Ringer Thomas M.,Rieß Olaf,Winkler Jürgen,Schöls Ludger

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-008-0144-2.pdf

Reference22 articles.

1. Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS et al (2007) Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet 39(3):366–372, doi: 10.1038/ng1980

2. Hehr U, Bauer P, Winner B, Schule R, Olmez A, Koehler W et al (2007) Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. Ann Neurol 62(6):656–665, doi: 10.1002/ana.21310

3. 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 (2008) Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain 131(Pt 3):772–784, doi: 10.1093/brain/awm293

4. Del Bo R, Di Fonzo A, Ghezzi S, Locatelli F, Stevanin G, Costa A et al (2007) SPG11: a consistent clinical phenotype in a family with homozygous Spatacsin truncating mutation. Neurogenetics 8(4):301–305, doi: 10.1007/s10048-007-0095-z

5. Lee MJ, Cheng TW, Hua MS, Pan MK, Wang J, Stephenson DA et al (2008) Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum. J Neurol Neurosurg Psychiatry 79(5):607–609, doi: 10.1136/jnnp.2007.136390

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