C9orf72 repeat expansions are a rare genetic cause of parkinsonism

Brain

Volumn 136, Issue 2, 2013, Pages 385-391

  Lesage, Suzanne ^a   Le Ber, Isabelle ^a,b   Condroyer, Christel ^a   Broussolle, Emmanuel ^c   Gabelle, Audrey ^d   Thobois, Stéphane ^c   Pasquier, Florence ^e   Mondon, Karl ^f   Dion, Patrick A ^g   Rochefort, Daniel ^g   Rouleau, Guy A ^g   Dürr, Alexandra ^a,h   Brice, Alexis ^a,h  

^a SORBONNE UNIVERSITÉ   (France)

^b 'Narcolepsie et Hypersomnie'   (France)

^c UNIVERSITÉ LYON 1   (France)

^d GUI DE CHAULIAC HOSPITAL   (France)

^e LILLE UNIVERSITY HOSPITAL   (France)

^f UNIVERSITY HOSPITAL OF TOURS   (France)

^g CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^h PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

C9orf72; dementia; parkinsonism

Indexed keywords

C9ORF72 PROTEIN; DOPAMINE RECEPTOR STIMULATING AGENT; LEVODOPA; PROTEIN; UNCLASSIFIED DRUG;

ADULT; AKINESIA; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CONTROLLED STUDY; CORTICOBASAL DEGENERATION; DEMENTIA; DIFFUSE LEWY BODY DISEASE; DISEASE SEVERITY; DNA STRUCTURE; DYSKINESIA; DYSTONIA; FEMALE; GAIT DISORDER; GENETIC COUNSELING; HUMAN; MAJOR CLINICAL STUDY; MALE; MILD COGNITIVE IMPAIRMENT; PARKINSON DISEASE; PARKINSONISM; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY; SHY DRAGER SYNDROME; TREATMENT RESPONSE; TREMOR; VISUAL HALLUCINATION;

EID: 84874318643     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/aws357     Document Type: Article

References (24)

1. Barton B, Grabli D, Bernard B, Czernecki V, Goldman JG, Stebbins G, et al. Clinical validation of movement disorder society-recommended diagnostic criteria for Parkinson's disease with dementia. Mov Disord 2012; 27: 248-53.
2. Boeve BF, Lang AE, Litvan I. Corticobasal degeneration and its relationship to progressive supranuclear palsy and frontotemporal dementia. Ann Neurol 2003; 54 (Suppl 5): S15-9.
3. Boeve BF, Boylan KB, Graff-Radford NR, DeJesus-Hernandez M, Knopman DS, Pedraza O, et al. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain 2012; 135: 765-83.
4. Church GM, Gilbert W. Genomic sequencing. Proc Natl Acad Sci USA 1984; 81: 1991-5.
5. de Lau LM, Breteler MM. Epidemiology of Parkinson's disease. Lancet Neurol 2006; 5: 525-35.
6. DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011; 72: 245-56.
7. Dubois B, Slachevsky A, Litvan I, Pillon B. The FAB: a frontal Assessment Battery at bedside. Neurology 2000; 55: 1621-6.
8. Folstein MF, Folstein SE, McHugh PR. "Mini-mental state". A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 1975; 12: 189-98.
9. Gijselinck I, Van Langenhove T, van der Zee J, Sleegers K, Philtjens S, Kleinberger G, et al. A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol 2012; 11: 54-65.
10. Gilman S, Wenning GK, Low PA, Brooks DJ, Mathias CJ, Trojanowski JQ, et al. Second consensus statement on the diagnosis of multiple system atrophy. Neurology 2008; 71: 670-6.
11. Goetz CG, Tilley BC, Shaftman SR, Stebbins GT, Fahn S, Martinez-Martin P, et al. Movement disorder society-sponsored revision of the unified parkinson's disease rating scale (MDS-UPDRS): scale presentation and clinimetric testing results. Mov Disord 2008; 23: 2129-70.
12. Heaton RK. A manual for the Wisconsin Card Sorting Test. Odessa, FL: Psychological Assessment Resources; 1981.
13. Hoehn MM, Yahr MD. Parkinsonism: onset, progression, and mortality. 1967. Neurology 2001; 57: S11-26.
14. Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992; 55: 181-4.
15. Litvan I, Agid Y, Calne D, Campbell G, Dubois B, Duvoisin RC, et al. Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of the NINDS-SPSP international workshop. Neurology 1996; 47: 1-9.
16. Mattis S. Mental status examination for organic mental syndrome in the elderly patient. In: Bellack L, Karusu TB, editors. Geriatric psychiatry. New York: Grune & Stratton; 1976.
17. Majounie E, Abramzon Y, Renton AE, Perry R, Bassett SS, Pletnikova O, et al. Repeat expansion in C9ORF72 in Alzheimer's disease. N Engl J Med 2012a; 366: 283-4.
18. Majounie E, Abramzon Y, Renton AE, Keller MF, Traynor BJ, Singleton AB. Large C9orf72 repeat expansions are not a common cause of Parkinson's disease. Neurobiol Aging 2012b; 33: 2527.e1-2.
19. McKeith IG, Dickson DW, Lowe J, Emre M, O'Brien JT, Feldman H, et al. Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium. Neurology 2005; 65: 1863-72.
20. Millecamps S, Boillé e S, Le Ber I, Seilhean D, Teyssou E, Giraudeau M, et al. Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes. J Med Genet 2012; 49: 258-63.
21. Renton AE, Majounie E, Waite A, Simó n-Sá nchez J, Rollinson S, Gibbs JR, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011; 72: 257-68.
22. Rutherford NJ, Heckman MG, Dejesus-Hernandez M, Baker MC, Soto-Ortolaza AI, Rayaprolu S, et al. Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype. Neurobiol Aging 2012; 33: 2950.e5-7.
23. Sabatelli M, Conforti FL, Zollino M, Mora G, Monsurrò MR, Volanti P, et al. C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population. Neurobiol Aging 2012; 33: 1848.e15-20.
24. Simón-Sánchez J, Dopper EG, Cohn-Hokke PE, Hukema RK, Nicolaou N, Seelaar H, et al. The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain 2012; 135: 723-35.