Reviewing the genetic causes of spastic-ataxias

被引：56

作者：

de Bot, Susanne T. ^{[1
]}

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

Vermeer, Sascha ^{[3
]}

Kremer, Hubertus P. H. ^{[4
]}

van de Warrenburg, Bart P. C. ^{[1
]}

机构：

[1] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Neurol, NL-6525 ED Nijmegen, Netherlands

[2] Radboud Univ Nijmegen, Med Ctr, Dept Paediat Neurol, NL-6525 ED Nijmegen, Netherlands

[3] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands

[4] Univ Groningen, Univ Med Ctr Groningen, Dept Neurol, Groningen, Netherlands

来源：

NEUROLOGY | 2012年 / 79卷 / 14期

关键词：

ONSET ALEXANDER-DISEASE; OF-THE-LITERATURE; FRIEDREICHS-ATAXIA; INBORN-ERRORS; CHARLEVOIX-SAGUENAY; DIAGNOSTIC-APPROACH; PARAPARESIS; MUTATIONS; PARAPLEGIA; METABOLISM;

D O I：

10.1212/WNL.0b013e31826d5fb0

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Although the combined presence of ataxia and pyramidal features has a long differential, the presence of a true spastic-ataxia as the predominant clinical syndrome has a rather limited differential diagnosis. Autosomal recessive ataxia of Charlevoix-Saguenay, late-onset Friedreich ataxia, and hereditary spastic paraplegia type 7 are examples of genetic diseases with such a prominent spastic-ataxic syndrome as the clinical hallmark. We review the various causes of spastic-ataxic syndromes with a focus on the genetic disorders, and provide a clinical framework, based on age at onset, mode of inheritance, and additional clinical features and neuroimaging signs, that could serve the diagnostic workup. Neurology (R) 2012;79:1507-1514

引用

页码：1507 / 1514

页数：8

共 43 条

[1] Mutations in SACS cause atypical and late-onset forms of ARSACS [J].

Baets, J. ;

Deconinck, T. ;

Smets, K. ;

Goossens, D. ;

Van den Bergh, P. ;

Dahan, K. ;

Schmedding, E. ;

Santens, P. ;

Rasic, V. Milic ;

Van Damme, P. ;

Robberecht, W. ;

De Meirleir, L. ;

Michielsens, B. ;

Del-Favero, J. ;

Jordanova, A. ;

De Jonghe, P. .

NEUROLOGY, 2010, 75 (13) :1181-1188

[2] Adult-onset Alexander disease [J].

Balbi, Pietro ;

Seri, Marco ;

Ceccherini, Isabella ;

Uggetti, Carla ;

Casale, Roberto ;

Fundaro, Cira ;

Caroli, Francesco ;

Santoro, Lucio .

JOURNAL OF NEUROLOGY, 2008, 255 (01) :24-30

[3] Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans [J].

Bayat, Vafa ;

Thiffault, Isabelle ;

Jaiswal, Manish ;

Tetreault, Martine ;

Donti, Taraka ;

Sasarman, Florin ;

Bernard, Genevieve ;

Demers-Lamarche, Julie ;

Dicaire, Marie-Josee ;

Mathieu, Jean ;

Vanasse, Michel ;

Bouchard, Jean-Pierre ;

Rioux, Marie-France ;

Lourenco, Charles M. ;

Li, Zhihong ;

Haueter, Claire ;

Shoubridge, Eric A. ;

Graham, Brett H. ;

Brais, Bernard ;

Bellen, Hugo J. .

PLOS BIOLOGY, 2012, 10 (03)

[4] Friedreich ataxia with minimal GAA expansion presenting as adult-onset spastic ataxia [J].

Berciano, J ;

Mateo, I ;

De Pablos, C ;

Polo, JM ;

Combarros, O .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2002, 194 (01) :75-82

[5] LONG-TERM TREATMENT OF CEREBROTENDINOUS XANTHOMATOSIS WITH CHENODEOXYCHOLIC ACID [J].

BERGINER, VM ;

SALEN, G ;

SHEFER, S .

NEW ENGLAND JOURNAL OF MEDICINE, 1984, 311 (26) :1649-1652

[6] Late-onset Friedreich ataxia - Phenotypic analysis, magnetic resonance imaging findings, and review of the literature [J].

Bhidayasiri, R ;

Perlman, SL ;

Pulst, SM ;

Geschwind, DH .

ARCHIVES OF NEUROLOGY, 2005, 62 (12) :1865-1869

[7] Autosomal recessive spastic ataxia of Charlevoix-Saguenay [J].

Bouchard, JP ;

Richter, A ;

Mathieu, J ;

Brunet, D ;

Hudson, TJ ;

Morgan, K ;

Melançon, SB .

NEUROMUSCULAR DISORDERS, 1998, 8 (07) :474-479

[8] A novel locus for autosomal recessive spastic ataxia on chromosome 17p [J].

Bouslam, Naima ;

Bouhouche, Ahmed ;

Benomar, Ali ;

Hanein, Sylvain ;

Klebe, Stephan ;

Azzedine, Hamid ;

Di Giandomenico, Silvia ;

Boland-Auge, Anne ;

Santorelli, Filippo M. ;

Durr, Alexandra ;

Brice, Alexis ;

Yahyaoui, Mohamed ;

Stevanin, Giovanni .

HUMAN GENETICS, 2007, 121 (3-4) :413-420

[9] Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes [J].

Brugman, F. ;

Scheffer, H. ;

Wokke, J. H. J. ;

Nillesen, W. M. ;

de Visser, M. ;

Aronica, E. ;

Veldink, J. H. ;

van den Berg, L. H. .

NEUROLOGY, 2008, 71 (19) :1500-1505

[10]

Casari G., 2006, GENEREVIEWS

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