The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8

被引：0

作者：

Amir Jahic

Mukhran Khundadze

Nadine Jaenisch

Rebecca Schüle

Sven Klimpe

Stephan Klebe

Christiane Frahm

Jan Kassubek

Giovanni Stevanin

Ludger Schöls

Alexis Brice

Christian A. Hübner

Christian Beetz

机构：

[1] Jena University Hospital,Department of Clinical Chemistry and Laboratory Medicine

[2] Institute of Human Genetics,Hans Berger Department of Neurology

[3] Jena University Hospital,Hertie

[4] Jena University Hospital,Institute for Clinical Brain Research, Department of Neurodegenerative Diseases

[5] University of Tübingen,Department of Neurology

[6] German Research Center for Neurodegenerative Diseases (DZNE),Department of Neurology

[7] Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics,Department of Neurology

[8] University Medical Center of the Johannes-Gutenberg University Mainz,undefined

[9] University Hospital,undefined

[10] University of Ulm,undefined

[11] INSERM U1127,undefined

[12] Sorbonne Universités,undefined

[13] UPMC Univ Paris 06 UMR_S1127,undefined

[14] CNRS UMR7225,undefined

[15] EPHE,undefined

[16] Institut du Cerveau et de la Moelle épinière,undefined

来源：

Orphanet Journal of Rare Diseases | / 10卷

关键词：

Hereditary spastic paraplegia; KIAA0196; Mouse model; Knockout; SPG8; Strumpellin;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

共 231 条

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[3] Schols L(2014)Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders Science 343 506-11
[4] Novarino G(1999)Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q Am J Hum Genet 64 563-9
[5] Fenstermaker AG(2007)Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia Am J Hum Genet 80 152-61
[6] Zaki MS(2013)Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene J Neurol 260 1765-9
[7] Hofree M(2013)Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment J Neurol 260 2414-6
[8] Silhavy JL(2014)Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses J Hum Genet 59 163-72
[9] Heiberg AD(2014)A novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia Chin Med J (Engl) 127 1987-9
[10] Hedera P(2014)A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8 J Neurol Sci 347 372-4