Cognitive characterization of SCAR10 caused by a homozygous c.132dupA mutation in the ANO10 gene

被引：8

作者：

Nieto, Antonieta ^{[1
]}

Perez-Flores, Javier ^{[1
]}

Corral-Juan, Marc ^{[2
]}

Matilla-Duenas, Antoni ^{[2
]}

Martinez-Burgallo, Francisco ^{[3
]}

Monton, Fernando ^{[4
]}

机构：

[1] Univ La Laguna, Sch Psychol, San Cristobal Laguna, Spain

[2] Univ Autonoma Barcelona, Funct & Translat Neurogenet Unit, Dept Neurosci, Hlth Sci Res Inst Germans Trias & Pujol IGTP, Barcelona, Spain

[3] Hosp Ntra Sra Candelaria, Human Genet Unit, Clin Anal Serv, Santa Cruz De Tenerife, Spain

[4] Hosp Ntra Sra Candelaria, Serv Neurol, Santa Cruz De Tenerife, Spain

来源：

NEUROCASE | 2019年 / 25卷 / 05期

关键词：

ANO10; gene; autosomal recessive spinocerebellar ataxia; SCAR10 cognitive impairment; cerebellum; RECESSIVE CEREBELLAR-ATAXIA; TYPE-3;

D O I：

10.1080/13554794.2019.1655064

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Autosomal recessive spinocerebellar ataxia type 10 (SCAR10) caused by a homozygous c.132dupA mutation in the anoctamin 10 gene is infrequent and little is known about its cognitive profile. Three siblings (1 male) with this mutation were assessed with a neuropsychological battery measuring multiple cognitive domains. The deficits observed in one patient were in executive functions whereas the other two patients showed deficits in practically all the functions. Cognitive impairment seems to be a characteristic of the SCAR10 produced by this mutation, with a range from mild impairment, especially involving prefrontal systems, to a severe cognitive impairment suggesting widespread cerebral involvement.

引用

页码：195 / 201

页数：7

共 34 条

[1] A method and server for predicting damaging missense mutations [J].

Adzhubei, Ivan A. ;

Schmidt, Steffen ;

Peshkin, Leonid ;

Ramensky, Vasily E. ;

Gerasimova, Anna ;

Bork, Peer ;

Kondrashov, Alexey S. ;

Sunyaev, Shamil R. .

NATURE METHODS, 2010, 7 (04) :248-249

[2] ANO10 mutations cause ataxia and coenzyme Q10 deficiency [J].

Balreira, Andrea ;

Boczonadi, Veronika ;

Barca, Emanuele ;

Pyle, Angela ;

Bansagi, Boglarka ;

Appleton, Marie ;

Graham, Claire ;

Hargreaves, Iain P. ;

Rasic, Vedrana Milic ;

Lochmueller, Hanns ;

Griffin, Helen ;

Taylor, Robert W. ;

Naini, Ali ;

Chinnery, Patrick F. ;

Hirano, Michio ;

Quinzii, Catarina M. ;

Horvath, Rita .

JOURNAL OF NEUROLOGY, 2014, 261 (11) :2192-2198

[3]

Benedet MJ, 1998, Tavec: Test de aprendizaje verbal Espaa-Complutense

[4]

Benton A., 1983, Multilingual Aphasia Examination, V3rd

[5]

Benton AL, 1994, Contributions to Neuropsychological Assessment: A Clinical Manual, V2nd

[6] The Cerebellum and Cognitive Function: 25 Years of Insight from Anatomy and Neuroimaging [J].

Buckner, Randy L. .

NEURON, 2013, 80 (03) :807-815

[7] Executive and Attentional Disorders, Epilepsy and Porencephalic Cyst in Autosomal Recessive Cerebellar Ataxia Type 3 Due to ANO10 Mutation [J].

Chamard, Ludivine ;

Sylvestre, Geraldine ;

Koenig, Michel ;

Magnin, Eloi .

EUROPEAN NEUROLOGY, 2016, 75 (3-4) :186-190

[8] ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies [J].

Chamova, Teodora ;

Florez, Laura ;

Guergueltcheva, Velina ;

Raycheva, Margarita ;

Kaneva, Radka ;

Lochmueller, Hanns ;

Kalaydjieva, Luba ;

Tournev, Ivailo .

JOURNAL OF NEUROLOGY, 2012, 259 (05) :906-911

[9]

Delis D.C., 1987, CALIFORNIA VERBAL LE

[10] Heterogeneity of Coenzyme Q10 Deficiency Patient Study and Literature Review [J].

Emmanuele, Valentina ;

Lopez, Luis C. ;

Berardo, Andres ;

Naini, Ali ;

Tadesse, Saba ;

Wen, Bing ;

D'Agostino, Erin ;

Solomon, Martha ;

DiMauro, Salvatore ;

Quinzii, Catarina ;

Hirano, Michio .

ARCHIVES OF NEUROLOGY, 2012, 69 (08) :978-983

← 1 2 3 4 →