Targeting the low-hanging fruit of neurodegeneration

Neurology

Volumn 83, Issue 16, 2014, Pages 1470-1473

  Mason, Amanda R ^a,b   Ziemann, Adam ^a,c,e   Finkbeiner, Steven ^a,c,d  

^a GLADSTONE INSTITUTE OF NEUROLOGICAL DISEASE   (United States)

^b Developmental and Stem Cell Biology Graduate Program   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d Taube Koret Center for Huntington's Disease Research   (United States)

^e LUNDBECK RESEARCH USA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; IVACAFTOR; TRASTUZUMAB;

CLINICAL FEATURE; DEGENERATIVE DISEASE; DRUG DESIGN; DRUG DEVELOPMENT; GENE MUTATION; GENE TARGETING; HEALTH CARE SYSTEM; HUMAN; NERVE DEGENERATION; NOTE; PHASE 3 CLINICAL TRIAL (TOPIC); PRIORITY JOURNAL; CLINICAL TRIAL (TOPIC); GENETICS; NEURODEGENERATIVE DISEASES; PATHOPHYSIOLOGY; PATIENT SELECTION; PROCEDURES;

CLINICAL TRIALS AS TOPIC; DRUG DISCOVERY; HUMANS; NEURODEGENERATIVE DISEASES; PATIENT SELECTION;

EID: 84925546029     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000894     Document Type: Note

References (47)

1. Heron M. Deaths: leading causes for 2009. Natl Vital Stat Rep 2012;61:1-94.
2. Hebert LE, Scherr PA, Bienias JL, Bennett DA, Evans DA. Alzheimer disease in the US population: prevalence estimates using the 2000 census. Archi Neurol 2003;60:1119-1122.
3. Finkbeiner S. Bridging the valley of death of therapeutics for neurodegeneration. Nat Med 2010;16:1227-1232.
4. Smith Y, Wichmann T, Factor SA, DeLong MR. Parkinson's disease therapeutics: new developments and challenges since the introduction of levodopa. Neuropsychopharmacology 2012;37:213-246.
5. Iqbal K, Grundke-Iqbal I. Opportunities and challenges in developing Alzheimer disease therapeutics. Acta Neuropa-thol 2011;122:543-549.
6. Huey ED, Armstrong N, Momeni P, Grafman J. Challenges and new opportunities in the investigation of new drug therapies to treat frontotemporal dementia. Expert Opin Ther Targets 2008;12:1367-1376.
7. Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinson-ism. Nature 1998;392:605-608.
8. Valente EM, Abou-Sleiman PM, Caputo V, et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 2004;304:1158-1160.
9. Zimprich A, Biskup S, Leitner P, et al. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 2004;44:601-607.
10. Ballard PA, Tetrud JW, Langston JW. Permanent human parkinsonism due to 1-methy 1-4-phenyl-1, 2, 3, 6-tetrahydropyridine (MPTP): seven cases. Neurology 1985;35:949-949.
11. Rinne JO, Brooks DJ, Rossor MN, et al. 11C-PiB PET assessment of change in fibrillar amyloid-beta load in patients with Alzheimer's disease treated with bapineuzumab: a phase 2, double-blind, placebo-controlled, ascending-dose study. Lancet Neurol 2010;9:363-372.
12. Aizenstein HJ, Nebes RD, Saxton JA, et al. Frequent amyloid deposition without significant cognitive impairment among the elderly. Arch Neurol 2008;65:1509-1517.
13. Trinh J, Farrer M. Advances in the genetics of Parkinson disease. Nat Rev Neurol 2013;9:445-454.
14. Rademakers R, Neumann M, Mackenzie IR. Advances in understanding the molecular basis of frontotemporal dementia. Nat Rev Neurol 2012;8:423-434.
15. Ramsey B, Davies J, McElvaney G, et al. A CFTR poten-tiator in patients with cystic fibrosis and the G551D mutation. NEJM 2011;365:1663-1672.
16. Ledford H. Drug bests cystic-fibrosis mutation. Nature 2012;482:145.
17. Norum J, Risberg T, Olsen J. A monoclonal antibody against HER-2 (trastuzumab) for metastatic breast cancer: a model-based cost-effectiveness analysis. Ann Oncol 2005;16:909-914.
18. Slamon DJ, Godolphin W, Jones L, et al. Studies of the HER-2/neu proto-oncogene in human breast and ovarian cancer. Science 1989;244:707-712.
19. Printz C. I-SPY 2 may change how clinical trials are conducted. Cancer 2013;119:1925-1927.
20. Vega GL, Scott M. Treatment of hypercholesterolemia with lovastatin (mevinolin) and colestipol. JAMA 1987;257:33-38.
21. WHO. Dementia: a public health priority [Internet]. 2012. Available at: http://apps.who.int/iris/bitstream/10665/75263/1/9789241564458-eng.pdf?ua51. Accessed June 26, 2014.
22. De Lau L, Breteler M. Epidemiology of Parkinson's disease. Lancet Neurol 2006;5:525-535.
23. Zaccai J, McCracken C, Brayne C. A systematic review of prevalence and incidence studies of dementia with Lewy bodies. Age Ageing 2005;34:561-566.
24. Onyike C, Diehl-Schmid J. The epidemiology of fronto-temporal dementia. Int Rev Psychiatry 2013;25:130-137.
25. Knopman DS, Roberts RO. Estimating the number of persons with frontotemporal lobar degeneration in the US population. J Mol Neurosci 2011;45:330-335.
26. Fisher ER, Hayden MR. Multisource ascertainment of Huntington disease in Canada: prevalence and population at risk. Mov Disord 2014;29:105-114.
27. Monckton G, Hoskin V, Warren S. Prevalence and incidence of muscular dystrophy in Alberta, Canada. Clin Genet 1982;21:19-24.
28. Traynor BJ, Codd MB, Corr B, Forde C, Frost E, Hardiman O. Incidence and prevalence of ALS in Ireland, 1995-1997: a population-based study. Neurology 1999; 52:504-509.
29. Van de Warrenburg BPC, Sinke RJ, Verschuuren-Bemelmans CC, et al. Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. Neurology 2002;58:702-708.
30. Nath U, Ben-Shlomo Y, Thomson RG, et al. The prevalence of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome) in the UK. Brain 2001;124:1438-1449.
31. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999;281:249-254.
32. Lesage S, Brice A. Parkinson's disease: from monogenic forms to genetic susceptibility factors. Hum Mol Genet 2009;18:R48-R59.
33. Campion D, Dumanchin C, Hannequin D, et al. Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet 1999;65:664-670.
34. Majounie E, Renton AE, Mok K, et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 2012;11:323-330.
35. Van der Zee J, Gijselinck I, Dillen L, et al. A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. Hum Mutat 2013;34:363-373.
36. Rademakers R, Cruts M, van Broeckhoven C. The role of tau (MAPT) in frontotemporal dementia and related tauo-pathies. Hum Mutat 2004;24:277-295.
37. Leone M, Brignolio F, Rosso MG, et al. Friedreich's ataxia: a descriptive epidemiological study in an Italian population. Clin Genet 2008;38:161-169.
38. López-Arlandis JM, Vilchez JJ, Palau F, Sevilla T. Friedreich's ataxia: an epidemiological study in Valencia, Spain, based on consanguinity analysis. Neuroepidemiology 1995;14:14-19.
39. Pearn J. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet 1978;15:409-413.
40. Yu C-E, Bird TD, Bekris LM, et al. The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. Arch Neurol 2010;67:161-170.
41. Gass J, Cannon A, Mackenzie IR, et al. Mutations in pro-granulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet 2006;15:2988-3001.
42. Le Ber I, van der Zee J, Hannequin D, et al. Progranulin null mutations in both sporadic and familial frontotempo-ral dementia. Hum Mutat 2007;28:846-855.
43. Pickering-Brown S, Rollinson S, Du Plessis D, et al. Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations. Brain 2008;131:721-731.
44. Ward A, Crean S, Mercaldi CJ, et al. Prevalence of apo-lipoprotein E4 genotype and homozygotes (APOE e4/4) among patients diagnosed with Alzheimer's disease: a systematic review and meta-analysis. Neuroepidemiology 2012;38:1-17.
45. Tang MX, Maestre G, Tsai WY, et al. Relative risk of Alzheimer disease and age-at-onset distributions, based on APOE genotypes among elderly African Americans, Caucasians, and Hispanics in New York City. Am J Hum Genet 1996;58:574-584.
46. Genin E, Hannequin D, Wallon D, et al. APOE and Alzheimer disease: a major gene with semi-dominant inheritance. Mol Psychiatry 2011;16:903-907.
47. Healy DG, Falchi M, O'Sullivan SS, et al. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol 2008;7:583-590.