Consensus clinical management guidelines for Friedreich ataxia

Orphanet Journal of Rare Diseases

Martin B Delatycki⁴  Jörg B Schulz⁵  Massimo Pandolfo¹  David Lynch²  Louise A Corben³ 

[1] Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels, Belgium;University of Pennsylvania, Pennsylvania, USA;Monash Health, Clayton 3168, Victoria, Australia;Department of Paediatrics, Melbourne University, Parkville 3052, Victoria, Australia;Department of Neurology, University Hospital, Aachen, Germany

关键词: Recommendations;    Evidence;    Guidelines;    Clinical;    Friedreich ataxia;   

Others  :  1149275
DOI  :  10.1186/s13023-014-0184-7

 received in 2014-08-21, accepted in 2014-11-07,  发布年份 2014

【 摘 要 】

Friedreich ataxia (FRDA), a multisystem autosomal recessive condition, is the most common inherited ataxia in Caucasians, affecting approximately 1 in 29,000 individuals. The hallmark clinical features of FRDA include progressive afferent and cerebellar ataxia, dysarthria, impaired vibration sense and proprioception, absent tendon reflexes in lower limbs, pyramidal weakness, scoliosis, foot deformity and cardiomyopathy. Despite significant progress in the search for disease modifying agents, the chronic progressive nature of FRDA continues to have a profound impact on the health and well-being of people with FRDA. At present there is no proven treatment that can slow the progression or eventual outcome of this life-shortening condition. Thirty-nine expert clinicians located in Europe, Australia, Canada and USA critically appraised the published evidence related to FRDA clinical care and provided this evidence in a concise manner. Where no published data specific to FRDA existed, recommendations were based on data related to similar conditions and/or expert consensus. There were 146 recommendations developed to ensure best practice in the delivery of health services to people with FRDA. Sixty-two percent of recommendations are based on expert opinion or good practice indicating the paucity of high-level quality clinical studies in this area. Whilst the development of these guidelines provides a critical first step in the provision of appropriate clinical care for people with FRDA, it also highlights the urgency of undertaking high-quality clinical studies that will ensure the delivery of optimum clinical management and intervention for people with FRDA.

【 授权许可】

   
2014 Corben et al.; licensee BioMed Central.

【 参考文献 】

• [1]Cossee M, Schmitt M, Campuzano V, Reutenauer L, Moutou C, Mandel JL, Koenig M: Evolution of the Friedreich’s ataxia trinucleotide repeat expansion: founder effect and premutations. Proc Natl Acad Sci U S A 1997, 94:7452-7457.
• [2]Delatycki MB, Williamson R, Forrest SM: Friedreich ataxia: an overview. J Med Genet 2000, 37:1-8.
• [3]Delatycki MB, Paris DB, Gardner RJ, Nicholson GA, Nassif N, Storey E, MacMillan JC, Collins V, Williamson R, Forrest SM: Clinical and genetic study of Friedreich ataxia in an Australian population. Am J Med Genet 1999, 87:168-174.
• [4]Dürr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, Mandel JL, Brice A, Koenig M: Clinical and genetic abnormalities in patients with Friedreich’s ataxia. N Eng J Med 1996, 335:1169-1175.
• [5]Schulz JB, Boesch S, Bürk K, Dürr A, Giunti P, Mariotti C, Pousset F, Schöls L, Vandan P, Pandolfo M: Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol 2009, 5:222-234.
• [6]Pandolfo M: Friedreich ataxia. Semin Pediatr Neurol 2003, 10(3):163-172.
• [7]Pandolfo M: Friedreich Ataxia: the clinical Picture. J Neurol 2009, 256:3-8.
• [8]Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A: Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996, 271:1423-1427.
• [9]Cossée M, Dürr A, Schmitt M, Dahl N, Trouillas P, Allinson P, Kostrzewa M, Nivelon-Chevallier A, Gustavson KH, Kohlschutter A, Muller U, Mandel JL, Brice A, Koenig M, Cavalcanti F, Tammaro A, De Michele G, Filla A, Cocozza S, Labuda M, Montermini L, Poirier J, Pandolfo M: Friedreich’s ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol 1999, 45:200-206.
• [10]Evans-Galea MV, Corben LA, Hasell J, Galea CA, Fahey MC, du Sart D, Delatycki MB: A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype. Neurogenetics 2011, 12:307-313.
• [11]Santos R, Lefevre S, Sliwa S, Seguin A, Camadro J, Lesuisse E: Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities. Antioxid Redox Signal 2010, 13:651-690.
• [12]Pandolfo M, Pastore A: The pathogenesis of Friedreich ataxia and the structure and function of frataxin. J Neurol 2009, 256:9-17.
• [13]Forrest SM, Knight M, Delatycki MB, Paris D, Williamson R, King J, Yeung L, Nassif N, Nicholson GA: The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene. Neurogenetics 1998, 1:253-257.
• [14]Pandolfo M: The molecular basis of Friedreich ataxia. Adv Exper Med Biol 2002, 516:99-118.
• [15]Puccio H, Koenig M: Recent advances in the molecular pathogenesis of Friedreich ataxia. Hum Mol Genet 2000, 9:887-892.
• [16]Kearney M, Orrell R, Fahey MC, Pandolfo M: Antioxidants and other pharmacological treatments for Friedreich ataxia (Review).Cochrane Rev 2012, 4.
• [17]Schardt C, Adams MB, Owens T, Keitz S, Fontelo P: Utilization of the PICO framework to improve searching PubMed for clinical questions. BMC Med Inform Decis Mak 2007, 7:16. BioMed Central Full Text
• [18]Hillier S, Grimmer-Somers K, Merlin T, Middleton P, Salisbury J, Tooher R, Weston A: FORM: An Australian method for formulating and grading recommendations in evidence-based clinical guidelines. BMC Med Res Methodol 2011, 11:23. BioMed Central Full Text
• [19]NHMRC (1999) A Guide to the Development, Implementation and Evaluation of Clinical Practice Guideline.https://www.nhmrc.gov.au/_files_nhmrc/publications/attachments/cp30.pdf.
• [20]Attal N, Cruccu G, Baron R, Haanpää M, Hansson P, Jensen TS, Nurmikko T: EFNS guidelines on the pharmacological treatment of neuropathic pain: 2010 revision. Eur J Neurol 2010, 17:1113-1188.
• [21]Dharmshaktu P, Tayal V, Kalra BS: Efficacy of antidepressants as analgesics: a review. J Clin Pharmacol 2012, 52:6-17.
• [22]Olver J, Esquenazi A, Fung VS, Singer BJ, Ward AB: Botulinum toxin assessment, intervention and aftercare for lower limb disorders of movement and muscle tone in adults: international consensus statement. Eur J Neurol 2010, 17:57-73.
• [23]Katalinic OM, Harvey LA, Herbert RD, Moseley AM, Lannin NA, Schurr K: Stretch for the treatment and prevention of contractures.Cochrane Database Syst Rev 2010, Issue 9. Art. No.: CD007455. doi:10.1002/14651858.CD007455.pub2.
• [24]Delatycki MB, Holian A, Corben L, Rawicki HB, Blackburn C, Hoare B, Toy M, Churchyard A: Surgery for equinovarus deformity in Friedreich’s ataxia improves mobility and independence. Clinical Orthopaedics & Related Research 2005, 430:138-141.
• [25]Synofzik M, Godau J, Lindig T, Schöls L, Berg D: Restless legs and substantia nigra hypoechogenicity are common features in Friedreich’s ataxia. Cerebellum 2011, 10:9-13.
• [26]Frauscher B, Hering S, Högl B, Gschliesser V, Ulmer H, Poewe W, Boesch SM: Restless legs syndrome in Friedreich ataxia: a polysomnographic study. Mov Disord 2011, 26:302-306.
• [27]Hening WA, Allen RP, Washburn M, Lesage SR, Earley CJ: The four diagnostic criteria for restless legs syndrome are unable to exclude confounding conditions (“mimics”). Sleep Med 2009, 10:976-981.
• [28]García-Borreguero D, Silber KR, Winkelman JW, Earley CJ, Högl B, Manconi M, Montplaisir J, Inoue Y, Allen RP: The long-term treatment of restless legs syndrome/Willis–Ekbom disease: evidence based guidelines and clinical consensus best practice guidance: a report from the International Restless Legs Syndrome Study Group. Sleep Med 2013, 14:675-684.
• [29]Blattner K: Friedreich’s ataxia: a suggested physical therapy regimen. Clinical Management 1988, 8:14-15.
• [30]Carr JH, Shepherd RB: Neurological Rehabilitation Optimising Motor Performance. Butterworth-Heinman, Oxford; 1998.
• [31]Milne SC, Campagna EJ, Corben LA, Delatycki MB, Teo K, Churchyard AJ, Haines TP: Retrospective study of the effects of inpatient rehabilitation on improving and maintaining functional independence in people with friedreich ataxia. ArchivPhys Med Rehab 2012, 93:1860-1863.
• [32]Folker J, Murdoch B, Cahill L, Delatycki M, Corben L, Vogel A: Dysarthria in Friedreich’s Ataxia: a perceptual analysis. Folia Phoniatrica et Logopedica 2010, 62:97-103.
• [33]Yorkston KM, Beukelman DR: Ataxic dysarthria: treatment sequences based on intelligibility and prosodic considerations. J Speech Hear Disord 1981, 46:398-404.
• [34]Rosenbek JC, Robbins JA, Roecker EB, Coyle JL, Wood JL: A penetration-aspiration scale. Dysphagia 1996, 11:93-98.
• [35]Scott A, Perry A, Bench J: A study of interrater reliability when using videofluoroscopy as an assessment of swallowing. Dysphagia 1998, 13:223-227.
• [36]Carnaby G, Hankey GJ, Pizzi J: Behavioural intervention for dysphagia in acute stroke: a randomised controlled trial. Lancet Neurol 2006, 5:31-37.
• [37]Welch MV, Logemann JA, Rademaker AW, Kahrilas PJ: Changes in pharyngeal dimensions effected by chin tuck. Arch Phys Med Rehabil 1993, 74:178-181.
• [38]Logemann JA, Gensler G, Robbins J, Lindblad AS, Brandt D, Hind JA, Kosek S, Dikeman K, Kazandjian M, Gramigna GD, Lundy D, McGarvey-Toler S, Miller Gardner PJ: A randomized study of three interventions for aspiration of thin liquids in patients with dementia or Parkinson’s disease. J Speech Lang Hear Res 2008, 51:173-183.
• [39]Rasley A, Logemann JA, Kahrilas PJ, Rademaker AW, Pauloski BR, Dodds WJ: Prevention of barium aspiration during videofluoroscopic swallowing studies: value of change in posture. Am J Roentgenol 1993, 160:1005-1009.
• [40]Germain I, Dufresne T, Gray-Donald K: A novel dysphagia diet improves the nutrient intake of institutionalized elders. J Am Diet Assoc 2006, 106:1614-1623.
• [41]Clavé P, de Kraa M, Arreola V, Girvent M, Farré R, Palomera E, Serra-Prat M: The effect of bolus viscosity on swallowing function in neurogenic dysphagia. Aliment Pharmacol Ther 2006, 24:1385-1394.
• [42]Thurtell MJ, Leigh RJ: Treatment of nystagmus. Curr Treat Options Neurol 2012, 14:60-72.
• [43]Coyne KS, Kaplan SA, Chapple CR, Sexton CC, Kopp ZS, Bush EN, Aiyer LP: EpiLUTS Team: Risk factors and comorbid conditions associated with lower urinary tract symptoms: EpiLUTS. BJU Int 2009, 103(Supplement 3):24-32.
• [44]Fowler CJ, Panicker JN, Drake M, Harris C, Harrison SC, Kirby M, Lucas M, Macleod N, Mangnall J, North A, Porter B, Reid S, Russell N, Watkiss K, Wells M: A UK consensus on the management of the bladder in multiple sclerosis. J Neurol Neurosurg Psychiatry 2009, 80:470-477.
• [45]Rance G, Corben L, Barker E, Carew P, Chisari D, Rogers M, Dowell R, Jamaluddin S, Bryson RMD: Auditory perception in individuals with Friedreich’s ataxia. Audiol Neurotol 2010, 15:229-240.
• [46]Tye-Murray N: Foundations of Aural Rehabilitation: Children, Adults, and Their Family Members. 3rd edition. Delmar, New York; 2009.
• [47]Rance G, Corben LA, Du Bourg E, King A, Delatycki MB: Successful treatment of auditory perceptual disorder in individuals with Friedreich ataxia. Neuroscience 2010, 171:552-555.
• [48]Hunt SA, Abraham WT, Chin MH, Feldman AM, Francis GS, Ganiats TG, Jessup M, Konstam MA, Mancini DM, Michl K, Oates JA, Rahko PS, Silver MA, Stevenson LW, Yancy CW: 2009 focused update incorporated into the ACC/AHA, Guidelines for the Diagnosis and Management of Heart Failure in Adults: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines: developed in collaboration with the International Society for Heart and Lung Transplantation. Circulation 2009, 2009(119):391-479.
• [49]Epstein AE, DiMarco JP, Ellenbogen KA, Estes NA, Freedman RA, Gettes LS, Gillinov AM, Gregoratos G, Hammill SC, Hayes DL, Hlatky MA, Newby LK, Page RL, Schoenfeld MH, Silka MJ, Stevenson LW, Sweeney MO, Smith SC Jr, Jacobs AK, Adams CD, Anderson JL, Buller CE, Creager MA, Ettinger SM, Faxon DP, Halperin JL, Hiratzka LF, Hunt SA, Krumholz HM, Kushner FG: Guidelines for Device-Based Therapy of Cardiac Rhythm Abnormalities: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the ACC/AHA/NASPE 2002 Guideline Update for Implantation of Cardiac Pacemakers and Antiarrhythmia Devices): developed in collaboration with the American Association for Thoracic Surgery and Society of Thoracic Surgeons. Circulation 2008, 2008(117):350-408.
• [50]Fuster V, Rydén LE, Cannom DS, Crijns HJ, Curtis AB, Ellenbogen KA, Halperin JL, Kay GN, Le Huezey JY, Lowe JE, Olsson SB, Prystowsky EN, Tamargo JL, Wann LS: ACCF/AHA/HRS focused updates incorporated into the ACC/AHA/ESC 2006 guidelines for the management of patients with atrial fibrillation: a report of the American College of Cardiology Foundation/American Heart Association Task Force on practice guidelines. Circulation 2011, 2011(123):269-367.
• [51]Corben LA, Ho M, Copland J, Tai G, Delatycki MB: Increased prevalence of sleep disordered breathing in Friedreich ataxia. Neurology 2013, 81:40-45.
• [52]Giles TL, Lasserson TJ, Smith BH, White J, Wright J, Cates CJ: Continuous positive airways pressure for obstructive sleep apnoea in adults.Cochrane Database Syst Rev 2006, Issue 3. Art. No.: CD001106. doi:10.1002/14651858.CD001106.pub3.
• [53]Mouloudi H, Katsanoulas C, Frantzeskos G: Requirements for muscle relaxation in Friedreich’s ataxia. Anaesthesia 1998, 53:177-180.
• [54]Bell CF, Kelly JM, Jones RS: Anaesthesia for Friedreich’s ataxia. Case report and review of the literature. Anaesthesia 1986, 41:296-301.
• [55]Tsirikos AI, Smith G: Scoliosis in Friedreich’s ataxia. J Bone Joint Surg 2012, 94:684-689.
• [56]Allard P, Dansereau J, Thiry PS, Geoffroy G, Raso JV, Duhaime M: Scoliosis in Friedreich’s ataxia. Can J Neurol Sci 1982, 9:105-111.
• [57]Cady RB, Bobechko WP: Incidence, natural history, and treatment of scoliosis in Friedreich’s ataxia. J Pediatr Orthop 1984, 4:673-676.
• [58]Jovanovic L, Peterson CM: Screening for gestational diabetes. Optimum timing and criteria for retesting. Diabetes 1985, 34:21-23.
• [59]Armstrong BA, Howat PW: Pregnancy in a woman with Friedreich’s ataxia complicated by pulmonary embolism. Austr N Z J Obst Gynaecol 2002, 42:88-90.
• [60]Friedman LS, Paulsen EK, Schadt KA, Brigatti KW, Driscoll DA, Farmer JM, Lynch DR: Pregnancy with Friedreich ataxia: a retrospective review of medical risks and psychosocial implications. Am J Obstet Gynecol 2010, 203:224.
• [61]Paul RH, Miller DA: Cesarean birth: how to reduce the rate. Am J Obstet Gynecol 1995, 172:1903-1907.
• [62]MacKenzie WE: Pregnancy in women with Friedreich’s ataxia. Brit Med J Clin Res Ed 1986, 293:308.
• [63]Kubal K, Pasricha SK, Bhargava M: Spinal anesthesia in a patient with Friedreich’s ataxia. Anesth Analges 1991, 72:257-258.
• [64]Enns GM, Kinsman SL, Perlman SL, Spicer KM, Abdenur JE, Cohen BH, Amagata A, Barnes A, Kheifets V, Shrader WD, Thoolen M, Blankenberg F, Miller G: Initial experience in the treatment of inherited mitochondrial disease with EPI-743. Mol Genet Metab 2012, 105:91-102.
• [65]Lynch DR, Willi SM, Wilson RB, Cotticelli MG, Brigatti KW, Deutsch EC, Kucheruk O, Shrader W, Rioux P, Miller G, Hawi A, Sciascia T: A0001 in friedreich ataxia: biochemical characterization and effects in a clinical trial. Mov Disord 2012, 27:1026-1033.
• [66]Cooper JM, Korlipara LV, Hart PE, Bradley JL, Schapira AH: Coenzyme Q10 and vitamin E deficiency in Friedreich’s ataxia: predictor of efficacy of vitamin E and coenzyme Q10 therapy. Eur J Neurol 2008, 15:1371-1379.
• [67]Richardson TE, Kelly HN, Yu AE, JW S: Therapeutic strategies in Friedreich’s ataxia. Brain Res 2013, 1514:91-97.
• [68]Hausse AO, Aggoun Y, Bonnet D, Sidi D, Munnich A, Rotig A, Rustin P: Idebenone and reduced cardiac hypertrophy in Friedreich’s ataxia. Heart 2002, 87:346-349.
• [69]Artuch R, Aracil A, Mas A, Colome C, Rissech M, Monros E, Pineda M: Friedreich’s ataxia: idebenone treatment in early stage patients. Neuropediatrics 2002, 33:190-193.
• [70]Di Prospero N, Baker A, Jeffries N, Fischbeck K: Neurological effects of high-dose idebenone in patients with Friedreich’s ataxia: a randomised, placebo-controlled trial. Lancet Neurol 2007, 16:878-886.
• [71]Pineda M, Arpa J, Montero R, Aracil A, Domínguez F, Galván M, Mas A, Martorell L, Sierra C, Brandi N, García-Arumí E, Rissech M, Velasco D, Costa JA, Artuch R: Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up. Eur J Paediatr Neurol 2008, 12:470-475.
• [72]Lynch DR, Perlman SL, Meier T: A phase 3, double-blind, placebo-controlled trial of Idebenone in Friedreich ataxia. Arch Neurol 2010, 67:941-947.
• [73]Valasco-Sánchez D, Aracil A, Montero R, Mas A, Jiménez L, O’Callaghan M, Tondo M, Capdevila A, Blanch J, Artuch R, Pineda M: Combined therapy with idebenone and deferiprone in patients with Friedreich’s ataxia. Cerebellum 2011, 10:1-8.
• [74]Boesch S, Sturm B, Hering S, Scheiber-Mojdehkar B, Steinkellner H, Goldenberg H, Poewe W: Neurological effects of recombinant human erythropoietin in Friedreich’s ataxia: a clinical pilot trial. Mov Disord 2008, 23:1940-1944.
• [75]Field MJ, Lohr K: Clinical Practice Guidelines: Directions for a New Program. National Academy Press, Washington, US; 1990.