No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden

被引：24

作者：

Akimoto, Chizuru ^{[1
]}

Forsgren, Lars ^{[1
]}

Linder, Jan ^{[1
]}

Birve, Anna ^{[1
]}

Backlund, Irene ^{[1
]}

Andersson, Jorgen ^{[1
]}

Nilsson, Ann-Charloth ^{[1
]}

Alstermark, Helena ^{[1
]}

Andersen, Peter M. ^{[1
]}

机构：

[1] Umea Univ, Dept Pharmacol & Clin Neurosci, SE-90185 Umea, Sweden

来源：

AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION | 2013年 / 14卷 / 01期

关键词：

C9ORF72; Parkinson's disease (PD); multiple system atrophy (MSA); progressive supranuclear palsy (PSP); hexanucleotide repeat expansion; AMYOTROPHIC-LATERAL-SCLEROSIS; DISEASE; ALS; DEMENTIA; DIAGNOSIS; MUTATION; FTD;

D O I：

10.3109/17482968.2012.725415

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

An intronic GGGGCC-hexanucleotide repeat expansion in C9ORF72 was recently identified as a major cause of amyotrophic lateral sclerosis and frontotemporal dementia. Some amyotrophic lateral sclerosis patients have signs of parkinsonism, and many parkinsonism patients develop dementia. In this study we examined if the hexanucleotide repeat expansion was present in parkinsonism patients, to clarify if there could be a relationship between the repeat expansion and disease. We studied the size of the hexanucleotide repeat expansion in a well defined population-based cohort of 135 Parkinson's disease patients and 39 patients with atypical parkinsonism and compared with 645 Swedish control subjects. We found no correlation between Parkinson's disease or atypical parkinsonism and the size of the GGGGCC repeat expansion in C9ORF72. In conclusion, this GGGGCC-repeat expansion in C9ORF72 is not a cause of parkinsonism in the Swedish population.

引用

页码：26 / 29

页数：4

共 22 条

[1]

Clinical genetics of amyotrophic lateral sclerosis: what do we really know? [J].

Andersen, Peter M. ;

Al-Chalabi, Ammar .

NATURE REVIEWS NEUROLOGY, 2011, 7 (11) :603-615

[2]

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS [J].

DeJesus-Hernandez, Mariely ;

Mackenzie, Ian R. ;

Boeve, Bradley F. ;

Boxer, Adam L. ;

Baker, Matt ;

Rutherford, Nicola J. ;

Nicholson, Alexandra M. ;

Finch, NiCole A. ;

Flynn, Heather ;

Adamson, Jennifer ;

Kouri, Naomi ;

Wojtas, Aleksandra ;

Sengdy, Pheth ;

Hsiung, Ging-Yuek R. ;

Karydas, Anna ;

Seeley, William W. ;

Josephs, Keith A. ;

Coppola, Giovanni ;

Geschwind, Daniel H. ;

Wszolek, Zbigniew K. ;

Feldman, Howard ;

Knopman, David S. ;

Petersen, Ronald C. ;

Miller, Bruce L. ;

Dickson, Dennis W. ;

Boylan, Kevin B. ;

Graff-Radford, Neill R. ;

Rademakers, Rosa .

NEURON, 2011, 72 (02) :245-256

[3]

Aggregation of neurodegenerative disease in ALS kindreds [J].

Fallis, Brooks A. ;

Hardiman, Orla .

AMYOTROPHIC LATERAL SCLEROSIS, 2009, 10 (02) :95-98

[4]

THE RELEVANCE OF THE LEWY BODY TO THE PATHOGENESIS OF IDIOPATHIC PARKINSONS-DISEASE [J].

GIBB, WRG ;

LEES, AJ .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1988, 51 (06) :745-752

[5]

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 [J].

Gijselinck, Ilse ;

Van Langenhove, Tim ;

van der Zee, Julie ;

Sleegers, Kristel ;

Philtjens, Stephanie ;

Kleinberger, Gernot ;

Janssens, Jonathan ;

Bettens, Karolien ;

Van Cauwenberghe, Caroline ;

Pereson, Sandra ;

Engelborghs, Sebastiaan ;

Sieben, Anne ;

De Jonghe, Peter ;

Vandenberghe, Rik ;

Santens, Patrick ;

De Bleecker, Jan ;

Maes, Githa ;

Baumer, Veerle ;

Dillen, Lubina ;

Joris, Geert ;

Cuijt, Ivy ;

Corsmit, Ellen ;

Elinck, Ellen ;

Van Dongen, Jasper ;

Vermeulen, Steven ;

Van den Broeck, Marleen ;

Vaerenberg, Carolien ;

Mattheijssens, Maria ;

Peeters, Karin ;

Robberecht, Wim ;

Cras, Patrick ;

Martin, Jean-Jacques ;

De Deyn, Peter P. ;

Cruts, Marc ;

Van Broeckhoven, Christine .

LANCET NEUROLOGY, 2012, 11 (01) :54-65

[6]

Parkinsonism and Motor Neuron Diseases: Twenty-Seven Patients with Diverse Overlap Syndromes [J].

Gilbert, Rebecca M. Wolf ;

Fahn, Stanley ;

Mitsumoto, Hiroshi ;

Rowland, Lewis P. .

MOVEMENT DISORDERS, 2010, 25 (12) :1868-1875

[7]

Consensus statement on the diagnosis of multiple system atrophy [J].

Gilman, S ;

Low, PA ;

Quinn, N ;

Albanese, A ;

Ben-Shlomo, Y ;

Fowler, CJ ;

Kaufman, H ;

Klockgether, T ;

Lang, AE ;

Lantos, PL ;

Litvan, I ;

Mathias, CJ ;

Oliver, E ;

Robertson, D ;

Schatz, I ;

Wenning, GK .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1999, 163 (01) :94-98

[8]

Early onset Parkinsonism associated with an intronic SOD1 mutation [J].

Kacem, Imen ;

Funalot, Benoit ;

Torny, Frederic ;

Lautrette, Geraldine ;

Andersen, Peter M. ;

Couratier, Philippe .

AMYOTROPHIC LATERAL SCLEROSIS, 2012, 13 (03) :315-317

[9]

Guam dementia syndrome revisited in 2011 [J].

Lee, Suzee E. .

CURRENT OPINION IN NEUROLOGY, 2011, 24 (06) :517-524

[10]

Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): Report of the NINDS-SPSP International Workshop [J].

Litvan, I ;

Agid, Y ;

Calne, D ;

Campbell, G ;

Dubois, B ;

Duvoisin, RC ;

Goetz, CG ;

Golbe, LI ;

Grafman, J ;

Growdon, JH ;

Hallett, M ;

Jankovic, J ;

Quinn, NP ;

Tolosa, E ;

Zee, DS ;

Chase, TN ;

FitzGibbon, EJ ;

Hall, Z ;

Juncos, J ;

Nelson, KB ;

Oliver, E ;

Pramstaller, P ;

Reich, SG ;

Verny, M .

NEUROLOGY, 1996, 47 (01) :1-9

← 1 2 3 →