Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia

Journal of the Neurological Sciences

Volumn 341, Issue 1-2, 2014, Pages 176-178

  Mignarri, Andrea ^a   Battistini, Stefania ^a   Tomai Pitinca, Maria Luigia ^b   Monti, Lucia ^b   Burroni, Luca ^b   Ginanneschi, Federica ^a   Ricci, Claudia ^a   Bavazzano, Antonio ^c   Federico, Antonio ^a   Restagno, Gabriella ^d   Dotti, Maria Teresa ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY HOSPITAL OF SIENA   (Italy)

^c Unit of Diagnostic and Therapeutic Neuroradiology Azienda Ospedaliera di Siena ^*  (Italy)

^d CITTÀ DELLA SALUTE E DELLA SCIENZA HOSPITAL   (Italy)

Author keywords

C9ORF72; Frontotemporal lobar degeneration (FTLD); Primary non fluent aphasia (PNFA); Progranulin (GRN)

Indexed keywords

PROGRANULIN; FLUORODEOXYGLUCOSE F 18; GRN PROTEIN, HUMAN; SIGNAL PEPTIDE; SPIN LABELING;

ADULT; APHASIA; C9ORF72 GENE; CASE REPORT; EXON; FEMALE; GENE; GENE MUTATION; GENETIC SUSCEPTIBILITY; GRN GENE; HUMAN; LETTER; MIDDLE AGED; PHENOTYPE; PRIORITY JOURNAL; RISK FACTOR; BRAIN CORTEX; DIAGNOSTIC USE; GENETICS; MIDDLE CEREBRAL ARTERY; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PATHOPHYSIOLOGY; POSITRON EMISSION TOMOGRAPHY; PRIMARY PROGRESSIVE NONFLUENT APHASIA; RADIOGRAPHY; SCINTISCANNING; SPIN LABELING;

CEREBRAL CORTEX; FEMALE; FLUORODEOXYGLUCOSE F18; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; MIDDLE CEREBRAL ARTERY; MUTATION; POSITRON-EMISSION TOMOGRAPHY; PRIMARY PROGRESSIVE NONFLUENT APHASIA; SPIN LABELS;

EID: 84901243938     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2014.03.030     Document Type: Letter

References (10)

1. A. Sieben, T. Van Langenhove, S. Engelborghs, J.J. Martin, P. Boon, and P. Cras et al. The genetics and neuropathology of frontotemporal lobar degeneration Acta Neuropathol 124 2012 353 372
2. R. Ferrari, K. Mok, J.H. Moreno, S. Cosentino, J. Goldman, and P. Pietrini et al. Screening for C9ORF72 repeat expansion in FTLD Neurobiol Aging 2012 33 1850 e1 e11
3. A. King, S. Al-Sarraj, C. Troakes, B.N. Smith, S. Maekawa, and M. Iovino et al. Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant Acta Neuropathol 125 2013 303 310
4. M. Van Blitterswijk, M.C. Baker, M. DeJesus-Hernandez, R. Ghidoni, L. Benussi, and E. Finger et al. C9ORF72 repeat expansions in cases with previously identified pathogenic mutations Neurology 81 2013 1332 1341
5. T. Lashley, J.D. Rohrer, C. Mahoney, E. Gordon, J. Beck, and S. Mead et al. A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia Neuropathol Appl Neurobiol 2013 10.1111/nan.12100
6. A.L. Kaivorinne, V. Moilanen, M. Kervinen, A.E. Renton, B.J. Traynor, and K. Majamaa et al. Novel TARDBP sequence variant and C9ORF72 repeat expansion in a family with frontotemporal dementia Alzheimer Dis Assoc Disord 2012 10.1097/WAD.0b013e318266fae5
7. A. Chiò, G. Restagno, M. Brunetti, I. Ossola, A. Calvo, and A. Canosa et al. ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations J Neurol Neurosurg Psychiatry 83 2012 730 733
8. M. van Blitterswijk, M. DeJesus-Hernandez, and R. Rademakers How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders? Curr Opin Neurol 25 2012 689 700
9. N. Finch, M. Baker, R. Crook, K. Swanson, K. Kuntz, and R. Surtees et al. Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members Brain 132 2009 583 591
10. T. Van Langenhoeve, J. van der Zee, I. Gijselinck, S. Engelborghs, R. Vandenberghe, and M. Vandenbulcke et al. Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort JAMA Neurol 70 2013 365 373