Genetic testing in neurological diseases

Journal of Neurology

Volumn 259, Issue 6, 2012, Pages 1249-1254

  Biskup, Saskia ^a   Gasser, Thomas ^a  

^a GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

Author keywords

Genetic diagnosis; Neurologic diseases; Next generation sequencing

Indexed keywords

GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; PARKIN;

AMINO ACID SEQUENCE; ARTICLE; CONFIDENTIALITY; FAMILY; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; INFORMED CONSENT; MEDICAL DECISION MAKING; MOLECULAR DIAGNOSIS; NEUROLOGIC DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

GENETIC COUNSELING; GENETIC TESTING; HUMANS; MUTATION; NERVOUS SYSTEM DISEASES;

EID: 84862754838     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-012-6511-9     Document Type: Article

References (12)

1. The Huntington's Disease Collaborative Research Group 1993 A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes Cell 72 971 983 10.1016/0092-8674(93)90585-E
2. T Gasser J Finsterer J Baets, et al. 2010 EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias Eur J Neurol 17 179 188 20050888 10.1111/j.1468-1331.2009.02873.x 1:STN:280:DC%2BC3czitlylsA%3D%3D
3. JM Burgunder L Schols J Baets, et al. 2011 EFNS guidelines for the molecular diagnosis of neurogenetic disorders: Motoneuron, peripheral nerve and muscle disorders Eur J Neurol 18 207 217 20500522 10.1111/j.1468-1331.2010. 03069.x
4. GR Thomas JR Forbes EA Roberts JM Walshe DW Cox 1995 The Wilson disease gene: spectrum of mutations and their consequences Nat Genet 9 210 217 7626145 10.1038/ng0295-210 1:CAS:528:DyaK2MXjsFOmsbk%3D
5. A Durr M Cossee Y Agid, et al. 1996 Clinical and genetic abnormalities in patients with Friedreich's ataxia N Engl J Med 335 1169 1175 8815938 10.1056/NEJM199610173351601 1:STN:280:DyaK28zpvFShsQ%3D%3D
6. JD Brook ME McCurrach HG Harley, et al. 1992 Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member Cell 69 385 1568252 1:STN:280:DyaK383jtlCktg%3D%3D
7. AE Renton E Majounie A Waite, et al. 2011 A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD Neuron 72 257 268 21944779 10.1016/j.neuron.2011.09.010 1:CAS:528:DC%2BC3MXhtlKrtL%2FI
8. M Periquet M Latouche E Lohmann, et al. 2003 Parkin mutations are frequent in patients with isolated early onset parkinsonism Brain 126 1271 1278 12764050 10.1093/brain/awg136
9. A Djarmati M Guzvic A Grunewald, et al. 2007 Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification Mov Disord 22 1708 1714 17674414 10.1002/mds.21370
10. AB Singleton M Farrer J Johnson, et al. 2003 Alpha-Synuclein locus triplication causes Parkinson's disease Science 302 841 14593171 10.1126/science.1090278 1:CAS:528:DC%2BD3sXoslehsbc%3D
11. ML Metzker 2009 Sequencing technologies-the next generation Nat Rev Genet 11 31 46 19997069 10.1038/nrg2626
12. The World Federation of Neurology Research Group on Huntington's Disease 1993 Presymptomatic testing for Huntington's disease: a world wide survey J Med Genet 30 1020 1022 10.1136/jmg.30.12.1020