De novo SPAST mutations may cause a complex SPG4 phenotype

被引：21

作者：

Schieving, Jolanda H. ^{[1
,2
]}

de Bot, Susanne T. ^{[3
]}

van de Pol, Laura A. ^{[4
]}

Wolf, Nicole I. ^{[4
,5
]}

Brilstra, Eva H. ^{[6
]}

Frints, Suzanna G. ^{[7
,8
]}

van Gaalen, Judith ^{[9
]}

Misra-lsrie, Mala ^{[10
]}

Pennings, Maartje ^{[11
]}

Verschuuren-Bemelmans, Corien C. ^{[12
]}

Kamsteeg, Erik-Jan ^{[11
]}

van de Warrenburg, Bart P. ^{[9
]}

Willemsen, Michel A. ^{[1
,2
]}

机构：

[1] Radboud Univ Nijmegen, Med Ctr, Amalia Childrens Hosp, Nijmegen, Netherlands

[2] Donders Inst Brain Cognit & Behav, Dept Pediat Neurol, Nijmegen, Netherlands

[3] Leiden Univ, Med Ctr, Dept Neurol, Leiden, Netherlands

[4] Vrije Univ, Emma Childrens Hosp, Amsterdam Univ, Dept Child Neurol,Med Ctr, Amsterdam, Netherlands

[5] Amsterdam Neurosci, Amsterdam, Netherlands

[6] Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands

[7] Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands

[8] Maastricht Univ, FHML, Sch Oncol, Dept Genet & Cell Biol,GROW, Maastricht, Netherlands

[9] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Neurol, Nijmegen, Netherlands

[10] Univ Amsterdam, Med Ctr, Dept Clin Genet, Amsterdam, Netherlands

[11] Univ Amsterdam, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

[12] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands

来源：

BRAIN | 2019年 / 142卷

关键词：

PARAPLEGIA CLINICAL-FEATURES; AUTOSOMAL-DOMINANT; SOMATIC MOSAICISM; SPECTRUM; ONSET; FREQUENT; CHILDREN; PROTEIN; SERIES; ATL1;

D O I：

10.1093/brain/awz140

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页数：5

共 29 条

[1] A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother [J].

Aulitzky, Anna ;

Friedrich, Katrin ;

Glaeser, Dieter ;

Gastl, Regina ;

Kubisch, Christian ;

Ludolph, Albert C. ;

Volk, Alexander E. .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2014, 347 (1-2) :352-355

[2] Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands [J].

Balicza, Peter ;

Grosz, Zoltan ;

Gonzalez, Michael A. ;

Bencsik, Renata ;

Pentelenyi, Klara ;

Gal, Aniko ;

Varga, Edina ;

Klivenyi, Peter ;

Koller, Julia ;

Zuechner, Stephan ;

Molnar, Judit Maria .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2016, 364 :116-121

[3] Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia [J].

Battini, R. ;

Fogli, A. ;

Borghetti, D. ;

Michelucci, A. ;

Perazza, S. ;

Baldinotti, F. ;

Conidi, M. E. ;

Ferreri, M. I. ;

Simi, P. ;

Cioni, G. .

EUROPEAN JOURNAL OF NEUROLOGY, 2011, 18 (01) :150-157

[4] Infantile onset of hereditary spastic paraplegia poorly predicts the genotype [J].

Blair, Marcia A. ;

Riddle, Megan E. ;

Wells, Jennifer F. ;

Breviu, Brian A. ;

Hedera, Peter .

PEDIATRIC NEUROLOGY, 2007, 36 (06) :382-386

[5] Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach [J].

Burguez, Daniela ;

Polese-Bonatto, Marcia ;

Jacinto Scudeiro, Lais Alves ;

Bjorkhem, Ingemar ;

Schols, Ludger ;

Jardim, Laura Bannach ;

Matte, Ursula ;

Saraiva-Pereira, Maria Luiza ;

Siebert, Marina ;

Morales Saute, Jonas Alex .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2017, 383 :18-25

[6] Clinical and genetic study of hereditary spastic paraplegia in Canada [J].

Chrestian, Nicolas ;

Dupre, Nicolas ;

Gan-Or, Ziv ;

Szuto, Anna ;

Chen, Shiyi ;

Venkitachalam, Anil ;

Brisson, Jean-Denis ;

Warman-Chardon, Jodi ;

Ahmed, Sohnee ;

Ashtiani, Setareh ;

MacDonald, Heather ;

Mohsin, Noreen ;

Mourabit-Amari, Karim ;

Provencher, Pierre ;

Boycott, Kym M. ;

Stavropoulos, Dimitri J. ;

Dion, Patrick A. ;

Ray, Peter N. ;

Suchowersky, Oksana ;

Rouleau, Guy A. ;

Yoon, Grace .

NEUROLOGY-GENETICS, 2017, 3 (01)

[7] Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia [J].

Crippa, Francesca ;

Panzeri, Chris ;

Martinuzzi, Andrea ;

Arnoldi, Alessia ;

Redaelli, Francesca ;

Tonelli, Alessandra ;

Baschirotto, Cinzia ;

Vazza, Giovanni ;

Mostacciuolo, Maria Luisa ;

Daga, Andrea ;

Orso, Genny ;

Profice, Paolo ;

Trabacca, Antonio ;

D'Angelo, Maria Grazia ;

Comi, Giacomo Pietro ;

Galbiati, Sara ;

Lamperti, Costanza ;

Bonato, Sara ;

Pandolfo, Massimo ;

Meola, Giovanni ;

Musumeci, Olimpia ;

Toscano, Antonio ;

Trevisan, Carlo Pietro ;

Bresolin, Nereo ;

Bassi, Maria Teresa .

ARCHIVES OF NEUROLOGY, 2006, 63 (05) :750-755

[8] Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations [J].

de Bot, S. T. ;

van den Elzen, R. T. M. ;

Mensenkamp, A. R. ;

Schelhaas, H. J. ;

Willemsen, M. A. A. P. ;

Knoers, N. V. A. M. ;

Kremer, H. P. H. ;

van de Warrenburg, B. P. C. ;

Scheffer, H. .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2010, 81 (10) :1073-1078

[9] Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases [J].

Depienne, C ;

Tallaksen, C ;

Lephay, JY ;

Bricka, B ;

Poea-Guyon, S ;

Fontaine, B ;

Labauge, P ;

Brice, A ;

Durr, A .

JOURNAL OF MEDICAL GENETICS, 2006, 43 (03) :259-265

[10] A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP [J].

Depienne, Christel ;

Fedirko, Estelle ;

Faucheux, Jean-Marc ;

Forlani, Sylvie ;

Bricka, Bernard ;

Goizet, Cyril ;

Lesourd, Sylvie ;

Stevanin, Giovanni ;

Ruberg, Merle ;

Durr, Alexandra ;

Brice, Alexis .

NEUROGENETICS, 2007, 8 (03) :231-233

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