Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy

F1000Research

Volumn 3, Issue , 2014, Pages

  Ekins, Sean ^{a,b,c,d,f,g,h,i}   Sames, Lori ^a   Moore, Allison ^b,c   Arnold, Renee ^d,e  

^a Hannah's Hope Fund ^*  (United States)

^b BioGAN Therapeutics   (United States)

^c Hereditary Neuropathy Foundation   (United States)

^d Arnold Consultancy and Technology LLC   (United States)

^e MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^f Collaborations in Chemistry ^*  (United States)

^g UNIVERSITY OF MARYLAND   (United States)

^h RUTGERS ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

ⁱ UNIVERSITY OF NORTH CAROLINA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER;

ARTICLE; DISEASE COURSE; DISEASE REGISTRY; DISEASE SEVERITY; ELECTRICAL IMPEDANCE MYOGRAPHY; GENETIC ASSOCIATION; GENETIC SCREENING; GIANT AXONAL NEUROPATHY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INCIDENCE; MYOGRAPHY; OUTCOME ASSESSMENT; PATIENT CARE; QUALITY OF LIFE; TRAINING;

EID: 84916624190     PISSN: 20461402     EISSN: 1759796X     Source Type: Journal    
DOI: 10.12688/f1000research.4270     Document Type: Article

References (69)

1. Lee SM Chin LS Li L: Protein misfolding and clearance in demyelinating peripheral neuropathies: Therapeutic implications. Commun Integr Biol. 2012;5(1):107-10. 22482025 10.4161/cib.18638 3291304
2. Shy ME: Lessons from London. J Neurol Neurosurg Psychiatry. 2012;83(8):767-8. 22696588 10.1136/jnnp-2012-302858 3721145
3. Bort S Sevilla T Vílchez JJ: [The diagnosis and prevalence of locus CMT1A duplication in Charcot-Marie-Tooth disease type 1]. Med Clin (Barc). 1995;104(17):648-52. 7623491
4. Naef R Suter U: Many facets of the peripheral myelin protein PMP22 in myelination and disease. Microsc Res Tech. 1998;41(5):359-71. 9672419 10.1002/(SICI)1097-0029(19980601)41:5&<359::AID-JEMT3&>3.0.CO;2-L
5. Kaya F Belin S Bourgeois P: Ascorbic acid inhibits PMP22 expression by reducing cAMP levels. Neuromuscul Disord. 2007;17(3):248-53. 17303424 10.1016/j.nmd.2006.12.008
6. Feely SM Laura M Siskind CE: MFN2 mutations cause severe phenotypes in most patients with CMT2A. Neurology. 2011;76(20):1690-6. 21508331 10.1212/WNL.0b013e31821a441e 3100135
7. Murphy SM Laura M Fawcett K: Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry. 2012;83(7):706-10. 22577229 10.1136/jnnp-2012-302451 3736805
8. Patel PI Pleasure D: Whither hope for pharmacological treatment of Charcot-Marie-Tooth disease type 1A? JAMA Neurol. 2013;70(8):969-71. 23797977 10.1001/jamaneurol.2013.3285
9. Raeymaekers P Timmerman V Nelis E: Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul Disord. 1991;1(2):93-7. 1822787 10.1016/0960-8966(91)90055-W
10. Lupinski JR Garcia CA: Molecular genetics and neuropathy of Charcot-Marie-Tooth disease type 1A. Brain Pathol. 1992;2(4):337-349. Reference Source
11. Jang SW Lopez-Anido C MacArthur R: Identification of drug modulators targeting gene-dosage disease CMT1A. ACS Chem Biol. 2012;7(7):1205-1213. 22530759 10.1021/cb300048d 3401360
12. Ainsworth C: Networking for new drugs. Nat Med. 2011;17(10):1166-8. 21988973 10.1038/nm1011-1166
13. Attarian S: A phase II randomized, placebo-controlled multicenter clinical trial of three doses of PXT3003 in 80 adult patients with CMT1A treated for 1 year. J Peripher Nerv Syst. 2013;8:197-198.
14. Lewis RA McDermott MP Herrmann DN: High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial. JAMA Neurol. 2013;70(8):981-7. 23797954 10.1001/jamaneurol.2013.3178 3752369
15. Verhamme C de Haan RJ Vermeulen M: Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial. BMC Med. 2009;7:70. 19909499 10.1186/1741-7015-7-70 2784478
16. Israni A Chakrabarty B Gulati S: Giant axonal neuropathy: a clinicoradiopathologic diagnosis. Neurology. 2013;82(9):816-7. 24590247 10.1212/WNL.0000000000000177 3945657
17. Yiu EM Ryan MM: Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset. J Peripher Nerv Syst. 2012;17(3):285-300. 22971091 10.1111/j.1529-8027.2012.00412.x
18. Bomont P Cavalier L Blondeau F: The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nat Genet. 2000;26(3):370-4. 11062483 10.1038/81701
19. Cleveland DW Yamanaka K Bomont P: Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway. Hum Mol Genet. 2009;18(8):1384-94. 19168853 10.1093/hmg/ddp044 2664145
20. Mahammad S Murthy SN Didonna A: Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation. J Clin Invest. 2013;123(5):1964-1975. 23585478 10.1172/JCI66387 3635735
21. Dequen F Bomont P Gowing G: Modest loss of peripheral axons, muscle atrophy and formation of brain inclusions in mice with targeted deletion of gigaxonin exon 1. J Neurochem. 2008;107(1):253-64. 18680552 10.1111/j.1471-4159.2008.05601.x 3657508
22. Mussche S Devreese B Nagabhushan Kalburgi S: Restoration of cytoskeleton homeostasis after gigaxonin gene transfer for giant axonal neuropathy. Hum Gene Ther. 2013;24(2):209-19. 23316953 10.1089/hum.2012.107
23. Roth LA Johnson-Kerner BL Marra JD: The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy. Neuromuscul Disord. 2014;24(1):48-55. 23890932 10.1016/j.nmd.2013.06.007
24. Opal P Goldman RD: Explaining intermediate filament accumulation in giant axonal neuropathy. Rare Diseases. 2013;1:e25378. 10.4161/rdis.25378
25. Fabrizi GM Cavallaro T Angiari C: Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. Brain. 2007;130(Pt 2):394-403. 17052987 10.1093/brain/awl284
26. Almodovar JL Ferguson M McDermott MP: In vivo confocal microscopy of Meissner corpuscles as a novel sensory measure in CMT1A. J Peripher Nerv Syst. 2011;16(3):169-74. 22003930 10.1111/j.1529-8027.2011.00342.x
27. Komyathy K Neal S Feely S: Anterior tibialis CMAP amplitude correlations with impairment in CMT1A. Muscle Nerve. 2013;47(4):493-6. 23456782 10.1002/mus.23614 3608739
28. Murphy SM Herrmann DN McDermott MP: Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2011;16(3):191-8. 22003934 10.1111/j.1529-8027.2011.00350.x 3754828
29. Johnson NE Heatwole CR Ferguson M: Patient identification of the symptomatic impact of charcot-marie-tooth disease type 1A. J Clin Neuromuscul Dis. 2013;15(1):19-23. 23965405 10.1097/CND.0b013e31829e22e3 3752697
30. Rutkove SB Darras BT: Electrical impedance myography for the assessment of children with muscular dystrophy: a preliminary study. J Phys Conf Ser. 2013;434(1): pii: 012069. 23894248 10.1088/1742-6596/434/1/012069 3721184
31. Rutkove SB Caress JB Cartwright MS: Electrical impedance myography as a biomarker to assess ALS progression. Amyotroph Lateral Scler. 2012;13(5):439-45. 22670883 10.3109/17482968.2012.688837 3422377
32. Rutkove SB Gregas MC Darras BT: Electrical impedance myography in spinal muscular atrophy: a longitudinal study. Muscle Nerve. 2012;45(5):642-7. 22499089 10.1002/mus.23233
33. Rutkove SB Shefner JM Gregas M: Characterizing spinal muscular atrophy with electrical impedance myography. Muscle Nerve. 2010;42(6):915-21. 21104866 10.1002/mus.21784
34. Rutkove SB Caress JB Cartwright MS: Electrical impedance myography correlates with standard measures of ALS severity. Muscle Nerve. 2013;49(3):441-3. 24273034 10.1002/mus.24128
35. Calvert M Pall H Hoppitt T: Health-related quality of life and supportive care in patients with rare long-term neurological conditions. Qual Life Res. 2013;22(6):1231-1238. 23001492 10.1007/s11136-012-0269-5
36. Padua L Pareyson D Aprile I: Natural history of Charcot-Marie-Tooth 2: 2-year follow-up of muscle strength, walking ability and quality of life. Neurol Sci. 2010;31(2):175-178. 20016922 10.1007/s10072-009-0202-z
37. Taniguchi JB Elui VM Osório FL: Quality of life in patients with Charcot-Marie-Tooth disease type 1A. Arq Neuropsiquiatr. 2013;71(6):392-396. 23828533 10.1590/0004-282X20130045
38. Ajay A Walters WP Murcko MA: Can we learn to distinguish between "drug-like? and "nondrug-like? molecules? J Med Chem. 1998;41(18):3314-3324. 9719583 10.1021/jm970666c
39. Ware JE Jr Sherbourne CD: The MOS 36-item short-form health survey (SF-36). I. Conceptual framework and item selection. Med Care. 1992;30(6):473-483. 1593914 10.1097/00005650-199206000-00002
40. Burns J Ramchandren S Ryan MM: Determinants of reduced health-related quality of life in pediatric inherited neuropathies. Neurology. 2010;75(8):726-731. 20733147 10.1212/WNL.0b013e3181eee496 2931653
41. Landgraf JL Abetz L Ware J: The Child Health Questionnaire (CHQ): A User's Manual. 1999, HealthAct: Boston, MA. Reference Source
42. Wiebe S Guyatt G Weaver B: Comparative responsiveness of generic and specific quality-of-life instruments. J Clin Epidemiol. 2003;56(1):52-60. 12589870 10.1016/S0895-4356(02)00537-1
43. Bryant D Guyatt G Arnold R: Patient-reported outcome measures. In Pharmacoeconomics: from theory to practice, R. Arnold, Editor, CRC Press (Taylor and Francis Group, LLC): Boca Raton,2010;149-162. 10.1201/9781420084405.ch11
44. Padua L Pazzaglia C Schenone A: Rehabilitation for Charcot Marie tooth: a survey study of patients and familiar/caregiver perspective and perception of efficacy and needs. Eur J Phys Rehabil Med. 2014;50(1):25-30. 24285024
45. Barrett E Birdsall C: What It's Like to Live with CMT?Manuscript in preparation. Reference Source
46. Andersson T Miners JO Veronese ME: Diazepam metabolism by human liver microsomes is mediated by both S-mephenytoin hydroxylase and CYP3A isoforms. Br J Clin Pharmacol. 1994;38(2):131-137. 7981013 1364858
47. Anthony LB Bennett RE Deegan PM: Cytochrome P-450 in vitro activation of cyclophosphamide (CPA) and Ifosfamide (IFOS). Clin Pharmacol Ther. 1996;59:199. 10.1038/sj.clpt.1996.296
48. Dyck PJ Oviatt KF Lambert EH: Intensive evaluation of referred unclassified neuropathies yields improved diagnosis. Ann Neurol. 1981;10(3):222-6. 7294727 10.1002/ana.410100304
49. Klein CJ Duan X Shy ME: Inherited neuropathies: clinical overview and update. Muscle Nerve. 2013;48(4):604-22. 23801417 10.1002/mus.23775 3918879
50. Conly JM Ronald AR: Cerebrospinal fluid as a diagnostic body fluid. Am J Med. 1983;75(1B):102-108. 6349337 10.1016/0002-9343(83)90080-3
51. Liem RK Messing A: Dysfunctions of neuronal and glial intermediate filaments in disease. J Clin Invest. 2009;119(7):1814-1824. 19587456 10.1172/JCI38003 2701870
52. Albrechtsen M Sørensen PS Gjerris F: High cerebrospinal fluid concentration of glial fibrillary acidic protein (GFAP) in patients with normal pressure hydrocephalus. J Neurol Sci. 1985;70(3):269-274. 4056822 10.1016/0022-510X(85)90168-6
53. Liem RK Messing A: Dysfunctions of neuronal and glial intermediate filaments in disease. J Clin Invest. 2009;119(7):1814-1824. 19587456 10.1172/JCI38003 2701870
54. Blennow M Sävman K Ilves P: Brain-specific proteins in the cerebrospinal fluid of severely asphyxiated newborn infants. Acta Paediatr. 2001;90(10):1171-1175. 11697430 10.1111/j.1651-2227.2001.tb03249.x
55. Tullberg M Rosengren L Blomsterwall E: CSF neurofilament and glial fibrillary acidic protein in normal pressure hydrocephalus. Neurology. 1998;50(4):1122-1127. 9566405 10.1212/WNL.50.4.1122
56. Blennow M Rosengren L Jonsson S: Glial fibrillary acidic protein is increased in the cerebrospinal fluid of preterm infants with abnormal neurological findings. Acta Paediatr. 1996;85(4):485-489. 8740311 10.1111/j.1651-2227.1996.tb14068.x
57. Norgren N Sundström P Svenningsson A: Neurofilament and glial fibrillary acidic protein in multiple sclerosis. Neurology. 2004;63(9):1586-1590. 15534240 10.1212/01.WNL.0000142988.49341.D1
58. Petzold A Keir G Kerr M: Early identification of secondary brain damage in subarachnoid hemorrhage: a role for glial fibrillary acidic protein. J Neurotrauma. 2006;23(7):1179-1184. 16866629 10.1089/neu.2006.23.1179
59. Misu T Takano R Fujihara K: Marked increase in cerebrospinal fluid glial fibrillar acidic protein in neuromyelitis optica: an astrocytic damage marker. J Neurol Neurosurg Psychiatry. 2009;80(5):575-577. 19372295 10.1136/jnnp.2008.150698
60. Kyllerman M Rosengren L Wiklund LM: Increased levels of GFAP in the cerebrospinal fluid in three subtypes of genetically confirmed Alexander disease. Neuropediatrics. 2005;36(5):319-323. 16217707 10.1055/s-2005-872876
61. Messing A Brenner M Feany MB: Alexander disease. J Neurosci. 2012;32(15):5017-5023. 22496548 10.1523/JNEUROSCI.5384-11.2012 3336214
62. Jany PL Hagemann TL Messing A: GFAP expression as an indicator of disease severity in mouse models of Alexander disease. ASN Neuro. 2013;5(1):e00109. 23432455 10.1042/AN20130003 3604736
63. Kretzschmar HA Berg BO Davis RL: Giant axonal neuropathy. A neuropathological study. Acta Neuropathol. 1987;73(2):138-144. 3604581 10.1007/BF00693779
64. Kumar K Barre P Nigro M: Giant axonal neuropathy: clinical, electrophysiologic, and neuropathologic features in two siblings. J Child Neurol. 1990;5(3):229-234. 2168911 10.1177/088307389000500316
65. Thomas C Love S Powell HC: Giant axonal neuropathy: correlation of clinical findings with postmortem neuropathology. Ann Neurol. 1987;22(1):79-84. 3631924 10.1002/ana.410220118
66. van der Knaap MS Valk J: Magnetic resonance of myelination and myelin disorders. Berlin: Springer Vol. Third,2005. 10.1007/3-540-27660-2
67. McDonald CM: Clinical approach to the diagnostic evaluation of hereditary and acquired neuromuscular diseases. Phys Med Rehabil Clin N Am. 2012;23(3):495-563. 22938875 10.1016/j.pmr.2012.06.011 3482409
68. Landsverk ML Ruzzo EK Mefford HC: Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy. Hum Mol Genet. 2009;18(7):1200-1208. 19139049 10.1093/hmg/ddp014 2722193
69. Jordanova A Thomas FP Guergueltcheva V: Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35. Am J Hum Genet. 2003;73(6):1423-1430. 14606043 10.1086/379792 1180404