Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy

被引：22

作者：

Huin, Vincent ^{[1
,2
]}

Strubi-Vuillaume, Isabelle ^{[2
]}

Dujardin, Kathy ^{[3
,4
]}

Brion, Marine ^{[4
]}

Delliaux, Marie ^{[4
]}

Dellacherie, Delphine ^{[5
]}

Cuvellier, Jean-Christophe ^{[5
]}

Cuisset, Jean-Marie ^{[5
]}

Riquet, Audrey ^{[5
]}

Moreau, Caroline ^{[3
,4
]}

Defebvre, Luc ^{[3
,4
]}

Sablonniere, Bernard ^{[1
,2
]}

Devos, David ^{[4
,6
]}

机构：

[1] Univ Lille, CHU Lille, Ctr Rech Jean Pierre AUBERT Neurosci & Canc, UMR S1172,JPArc, F-59000 Lille, France

[2] CHU Lille, Inst Biochim & Biol Mol, Ctr Biol Pathol & Genet, F-59000 Lille, France

[3] Univ Lille, INSERM, CHU Lille, Degenerat & Vasc Cognit Disorders U1171, F-59000 Lille, France

[4] CHU Lille, Hop Roger Salengro, Serv Neurol & Pathol Mouvement, F-59000 Lille, France

[5] CHU Lille, Hop Roger Salengro, Serv Neuropediat, F-59000 Lille, France

[6] CHU Lille, Fac Med, Serv Pharmacol Med, F-59045 Lille, France

来源：

PARKINSONISM & RELATED DISORDERS | 2017年 / 45卷

关键词：

Spinocerebellar ataxia; Parkinson's disease; Epilepsy; Cognitive disorders; KCND3; mutation; Neurogenetics; Neuropsychiatric disorder; ATAXIA; CHANNEL; MUTATIONS; SCA10;

D O I：

10.1016/j.parkreldis.2017.09.014

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Introduction: Spinocerebellar ataxia types 19 and 22 (SCA19/22) are rare conditions in which relatively isolated cerebellar involvement is frequently associated with cognitive impairment. Here, we report on new clinical features and provide details of the cognitive profile in two SCA19/22 families. Methods: Two families displaying an autosomal-dominant form of cerebellar ataxia underwent clinical examinations and genetic testing. Results: In addition to the classical clinical features of SCA, a wide spectrum of cognitive disorders (including visuospatial impairments) was observed. Eight patients had mild Parkinsonism, and five had epilepsy. Genetic testing showed that the KCND3 mutation (c.679_681delTTC, p.F227del) was present in both families. Conclusions: Our findings broaden the phenotypic spectrum of SCA19/22, and suggest that KCND3 should be included in the list of candidate genes for epilepsy, Parkinsonism and cognitive impairment. (C) 2017 Elsevier Ltd. All rights reserved.

引用

页码：85 / 89

页数：5

共 14 条

[1]

[Anonymous], COLD SPRING HARB PER

[2] Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay [J].

Cagnoli, C ;

Michielotto, C ;

Matsuura, T ;

Ashizawa, T ;

Margolis, RL ;

Holmes, SE ;

Gellera, C ;

Migone, N ;

Brusco, A .

JOURNAL OF MOLECULAR DIAGNOSTICS, 2004, 6 (02) :96-100

[3] Role of the Kv4.3 K+ channel in ventricular muscle - A molecular correlate for the transient outward current [J].

Dixon, JE ;

Shi, WM ;

Wang, HS ;

McDonald, C ;

Yu, H ;

Wymore, RS ;

Cohen, IS ;

McKinnon, D .

CIRCULATION RESEARCH, 1996, 79 (04) :659-668

[4] Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner [J].

Duarri, Anna ;

Lin, Meng-Chin A. ;

Fokkens, Michiel R. ;

Meijer, Michel ;

Smeets, Cleo J. L. M. ;

Nibbeling, Esther A. R. ;

Boddeke, Erik ;

Sinke, Richard J. ;

Kampinga, Harm H. ;

Papazian, Diane M. ;

Verbeek, Dineke S. .

CELLULAR AND MOLECULAR LIFE SCIENCES, 2015, 72 (17) :3387-3399

[5] Mutations in Potassium Channel KCND3 Cause Spinocerebellar Ataxia Type 19 [J].

Duarri, Anna ;

Jezierska, Justyna ;

Fokkens, Michiel ;

Meijer, Michel ;

Schelhaas, Helenius J. ;

den Dunnen, Wilfred F. A. ;

van Dijk, Freerk ;

Verschuuren-Bemelmans, Corien ;

Hageman, Gerard ;

van de Vlies, Pieter ;

Kusters, Benno ;

van de Warrenburg, Bart P. ;

Kremer, Berry ;

Wijmenga, Cisca ;

Sinke, Richard J. ;

Swertz, Morris A. ;

Kampinga, Harm H. ;

Boddeke, Erik ;

Verbeek, Dineke S. .

ANNALS OF NEUROLOGY, 2012, 72 (06) :870-880

[6] Mutations in KCND3 Cause Spinocerebellar Ataxia Type 22 [J].

Lee, Yi-Chung ;

Durr, Alexandra ;

Majczenko, Karen ;

Huang, Yen-Hua ;

Liu, Yu-Chao ;

Lien, Cheng-Chang ;

Tsai, Pei-Chien ;

Ichikawa, Yaeko ;

Goto, Jun ;

Monin, Marie-Lorraine ;

Li, Jun Z. ;

Chung, Ming-Yi ;

Mundwiller, Emeline ;

Shakkottai, Vikram ;

Liu, Tze-Tze ;

Tesson, Christelle ;

Lu, Yi-Chun ;

Brice, Alexis ;

Tsuji, Shoji ;

Burmeister, Margit ;

Stevanin, Giovanni ;

Soong, Bing-Wen .

ANNALS OF NEUROLOGY, 2012, 72 (06) :859-869

[7] Recent progress in spinocerebellar ataxia type-10 (SCA10) [J].

Lin, X ;

Ashizawa, T .

CEREBELLUM, 2005, 4 (01) :37-42

[8] The cerebellum in Parkinson's disease and parkinsonism in cerebellar disorders [J].

Pedroso, Jose Luiz ;

Braga-Neto, Pedro ;

Sgobbi de Souza, Paulo Victor ;

Barsottini, Orlando G. P. .

BRAIN, 2013, 136 :E248-U16

[9] Autosomal dominant cerebellar ataxias: a systematic review of clinical features [J].

Rossi, M. ;

Perez-Lloret, S. ;

Doldan, L. ;

Cerquetti, D. ;

Balej, J. ;

Millar Vernetti, P. ;

Hawkes, M. ;

Cammarota, A. ;

Merello, M. .

EUROPEAN JOURNAL OF NEUROLOGY, 2014, 21 (04) :607-615

[10] Clinical, psychological, and genetic characteristics of spinocerebellar ataxia type 19 (SCA19) [J].

Schelhaas, HJ ;

Van de Warrenburg, BPC .

CEREBELLUM, 2005, 4 (01) :51-54

← 1 2 →