A novel AFG3L2 mutation in a Somalian patient with spinocerebellar ataxia type 28

被引：8

作者：

Qu, Jane ^{[1
]}

Wu, Connie K. ^{[1
]}

Zuzuarregui, Jose Rafael P. ^{[2
]}

Hohler, Anna D. ^{[2
]}

机构：

[1] Boston Univ, Sch Med, Boston, MA 02118 USA

[2] Boston Univ, Sch Med, Dept Neurol, Boston, MA 02118 USA

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2015年 / 358卷 / 1-2期

关键词：

Spinocerebellar ataxia; SCA28; AFG3L2; African descent; DOMINANT CEREBELLAR-ATAXIA; SLOW PROGRESSION; DELETION;

D O I：

10.1016/j.jns.2015.10.003

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：530 / 531

页数：2

共 50 条

[21] Peripheral Neuropathy in Spinocerebellar Ataxia Type 1, 2, 3, and 6 [J].

Linnemann, Christoph ;

du Montcel, Sophie Tezenas ;

Rakowicz, Maryla ;

Schmitz-Huebsch, Tanja ;

Szymanski, Sandra ;

Berciano, Jose ;

van de Warrenburg, Bart P. ;

Pedersen, Karine ;

Depondt, Chantal ;

Rola, Rafal ;

Klockgether, Thomas ;

Garcia, Antonio ;

Mutlu, Gurkan ;

Schoels, Ludger .

CEREBELLUM, 2016, 15 (02) :165-173

[22] Missense Mutations in the AFG3L2 Proteolytic Domain Account for ∼1.5% of European Autosomal Dominant Cerebellar Ataxias [J].

Cagnoli, Claudia ;

Stevanin, Giovanni ;

Brussino, Alessandro ;

Barberis, Marco ;

Mancini, Cecilia ;

Margolis, Russell L. ;

Holmes, Susan E. ;

Nobili, Marcello ;

Forlani, Sylvie ;

Padovan, Sergio ;

Pappi, Patrizia ;

Zaros, Cecile ;

Leber, Isabelle ;

Ribai, Pascale ;

Pugliese, Luisa ;

Assalto, Corrado ;

Brice, Alexis ;

Migone, Nicola ;

Duerr, Alexandra ;

Brusco, Alfredo .

HUMAN MUTATION, 2010, 31 (10) :1117-1124

[23] Hispanic Spinocerebellar Ataxia Type 35 (SCA35) with a Novel Frameshift Mutation [J].

Lin, Chih-Chun ;

Gan, Shi-Rui ;

Gupta, Deepak ;

Alaedini, Armin ;

Green, Peter H. ;

Kuo, Sheng-Han .

CEREBELLUM, 2019, 18 (02) :291-294

[24] Hispanic Spinocerebellar Ataxia Type 35 (SCA35) with a Novel Frameshift Mutation [J].

Chih-Chun Lin ;

Shi-Rui Gan ;

Deepak Gupta ;

Armin Alaedini ;

Peter H Green ;

Sheng-Han Kuo .

The Cerebellum, 2019, 18 :291-294

[25] Congenital Ichthyosis in a Case of Spinocerebellar Ataxia Type 34: A Novel Presentation for a Known Mutation [J].

Haeri, Ghazal ;

Hajiakhoundi, Fahimeh ;

Alavi, Afagh ;

Ghiasi, Maryam ;

Munhoz, Renato P. ;

Rohani, Mohammad .

MOVEMENT DISORDERS CLINICAL PRACTICE, 2021,

[26] MASSETER REFLEX IN THE STUDY OF SPINOCEREBELLAR ATAXIA TYPE 2 AND TYPE 3 [J].

Garcia, Antonio ;

Alvarez, Silvia ;

Infante, Jon ;

Berciano, Jose .

MUSCLE & NERVE, 2009, 40 (04) :640-642

[27] Spinocerebellar ataxia 14:: Novel mutation in exon 2 of PRKCG in a German family [J].

Nolte, Dagmar ;

Landendinger, Melanie ;

Schmitt, Eberhard ;

Mueller, Ulrich .

MOVEMENT DISORDERS, 2007, 22 (02) :265-267

[28] Cognitive deficits in spinocerebellar ataxia type 1, 2, and 3 [J].

Bürk, K ;

Globas, C ;

Bösch, S ;

Klockgether, T ;

Zühlke, C ;

Daum, I ;

Dichgans, J .

JOURNAL OF NEUROLOGY, 2003, 250 (02) :207-211

[29] Neurophysiological features in spinocerebellar ataxia type 2: Prospects for novel biomarkers [J].

Velazquez-Perez, Luis ;

Rodriguez-Labrada, Roberto ;

Gonzalez-Garces, Yasmany ;

Vazquez-Mojena, Yaimee ;

Perez-Rodriguez, Roberto ;

Ziemann, Ulf .

CLINICAL NEUROPHYSIOLOGY, 2022, 135 :1-12

[30] Unique Structural Features of the Mitochondrial AAA plus Protease AFG3L2 Reveal the Molecular Basis for Activity in Health and Disease [J].

Puchades, Cristina ;

Ding, Bojian ;

Song, Albert ;

Wiseman, R. Luke ;

Lander, Gabriel C. ;

Glynn, Steven E. .

MOLECULAR CELL, 2019, 75 (05) :1073-+

← 1 2 3 4 5 →