Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort

Spinal Cord

Volumn 52, Issue 1, 2014, Pages 77-79

  Nielsen, T T ^a,b   Svenstrup, K ^a,b   Duno, M ^c   Nielsen, J E ^a,b  

^a Mental Health Services CPH   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c Rigshospitalet   (Denmark)

Author keywords

C9ORF72; hereditary spastic paraplegia; HSP; modifier

Indexed keywords

ARTICLE; C9ORF72 GENE; COHORT ANALYSIS; DISEASE ASSOCIATION; GENE; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE REPEAT; PRIORITY JOURNAL;

BASE SEQUENCE; DENMARK; DNA REPEAT EXPANSION; HUMANS; PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84891738058     PISSN: 13624393     EISSN: 14765624     Source Type: Journal    
DOI: 10.1038/sc.2013.116     Document Type: Article

References (18)

1. Erichsen AK, Koht J, Stray-Pedersen A, Abdelnoor M, Tallaksen CM. Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. Brain 2009; 132: 1577-1588.
2. Fink JK. Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathol 2013; 126: 307-328.
3. Blackstone C, OKane CJ, Reid E. Hereditary spastic paraplegias: membrane traffic and the motor pathway. Nat Rev Neurosci 2011; 12: 31-42.
4. 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: 245-256.
5. Renton AE, Majounie E, Waite A, Simon-Sanchez 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: 257-268.
6. Murray ME, DeJesus-Hernandez M, Rutherford NJ, Baker M, Duara R, Graff-Radford NR et al. Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathol 2011; 122: 673-690.
7. Neumann M, Kwong LK, Sampathu DM, Trojanowski JQ, Lee VM. TDP-43 proteinopathy in frontotemporal lobar degeneration and amyotrophic lateral sclerosis: protein misfolding diseases without amyloidosis. Arch Neurol 2007; 64: 1388-1394.
8. Martinez-Lage M, Molina-Porcel L, Falcone D, McCluskey L, Lee VM, Van Deerlin VM et al. TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation. Acta Neuropathol 2012; 124: 285-291.
9. Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006; 314: 130-133.
10. Scheuer KH, Nielsen JE, Krabbe K, Simonsen C, Koefoed P, Sorensen SA et al. Reduced regional cerebral blood flow in SPG4-linked hereditary spastic paraplegia. J Neurol Sci 2005; 235: 23-32.
11. Satoh JI, Tabunoki H, Ishida T, Saito Y, Arima K. Dystrophic neurites express C9ORF72 in Alzheimers disease brains. Alzheimers Res Ther 2012; 4: 33.
12. Majounie E, Abramzon Y, Renton AE, Perry R, Bassett SS, Pletnikova O et al. Repeat expansion in C9ORF72 in Alzheimers disease. N Engl J Med 2012; 366: 283-284.
13. Fink JK, Heiman-Patterson T, Bird T, Cambi F, Dube MP, Figlewicz DA et al. Hereditary spastic paraplegia: advances in genetic research. Hereditary spastic paraplegia working group. Neurology 1996; 46: 1507-1514.
14. Lindquist S, Duno M, Batbayli M, Puschmann A, Braendgaard H, Mardosiene S et al. Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease. Clin Genet 2012; 23: 279-283.
15. Elden AC, Kim HJ, Hart MP, Chen-Plotkin AS, Johnson BS, Fang X et al. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 2010; 466: 1069-1075.
16. Nielsen TT, Svenstrup K, Budtz-Jorgensen E, Eiberg H, Hasholt L, Nielsen JE. ATXN2 with intermediate-length CAG/CAA repeats does not seem to be a risk factor in hereditary spastic paraplegia. J Neurol Sci 2012: 100-102.
17. Polymenidou M, Lagier-Tourenne C, Hutt KR, Bennett CF, Cleveland DW, Yeo GW. Processing in amyotrophic lateral sclerosis. Brain Res 2012; 1462: 3-15.
18. Harms MB, Neumann D, Benitez BA, Cooper B, Carrell D, Racette BA et al. Parkinson disease is not associated with C9ORF72 repeat expansions. Neurobiol Aging 2012; 34: 1519.e1-2.