C9ORF72 expansion is not a significant cause of sporadic spinocerebellar ataxia

Movement Disorders

Volumn 27, Issue 14, 2012, Pages 1835-1836

  Fogel, Brent L ^a   Pribadi, Mochtar ^a   Pi, Sarah ^a   Perlman, Susan L ^a   Geschwind, Daniel H ^a   Coppola, Giovanni ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIN 1; ATAXIN 3; ATAXIN 7; NUCLEIC ACID BINDING PROTEIN; SCA2 PROTEIN; SCA6 PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; C9ORF72 GENE; CEREBELLAR ATAXIA; FEMALE; GENE; GENE MUTATION; HUMAN; LETTER; MAJOR CLINICAL STUDY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION;

EID: 84871780700     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25245     Document Type: Letter

References (7)

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2. Renton AE, Majounie E, Waite A, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011; 72: 257-268.
3. DeJesus-Hernandez M, Mackenzie IR, Boeve BF, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011; 72: 245-256.
4. Boeve BF, Boylan KB, Graff-Radford NR, et al. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain 2012; 135: 765-783.
5. Lindquist S, Duno M, Batbayli M, et al. Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease. Clin Genet 2012; 9999.
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7. Whitwell JL, Weigand SD, Boeve BF, et al. Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain 2012; 135: 794-786.