Therapeutic interventions in the primary hereditary ataxias

Current Treatment Options in Neurology

Volumn 12, Issue 4, 2010, Pages 257-273

  Revuelta, Gonzalo J ^a   Wilmot, George R ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYTRYPTOPHAN; ACETAZOLAMIDE; ACETYLSALICYLIC ACID; ALPHA TOCOPHEROL; AMANTADINE; AMPHETAMINE; ANTICOAGULANT AGENT; BUSPIRONE; CARBAMAZEPINE; CARBONATE DEHYDRATASE INHIBITOR; CARNITINE; CIMETIDINE; CLONAZEPAM; CREATINE; DIURETIC AGENT; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; HYPOCHOLESTEROLEMIC AGENT; IDEBENONE; ISONIAZID; LEVODOPA; MONOAMINE OXIDASE INHIBITOR; NONSTEROID ANTIINFLAMMATORY AGENT; OXYBATE SODIUM; PHYSOSTIGMINE; PLACEBO; PROBENECID; PROTEINASE INHIBITOR; TRIMETHOPRIM; UBIDECARENONE; UNINDEXED DRUG;

ABDOMINAL PAIN; ANTICHOLINERGIC SYNDROME; ATAXIA; BLADDER DYSFUNCTION; BLOOD DYSCRASIA; BRAIN DEPTH STIMULATION; CLINICAL FEATURE; CLINICAL TRIAL; CONSTIPATION; COST EFFECTIVENESS ANALYSIS; DIARRHEA; DIET SUPPLEMENTATION; DISEASE ACTIVITY; DISEASE CLASSIFICATION; DIZZINESS; DOSE RESPONSE; DRUG CONTRAINDICATION; DRUG COST; DRUG DOSE COMPARISON; DRUG DOSE REDUCTION; DRUG EFFICACY; DRUG MECHANISM; DRUG MEGADOSE; DRUG POTENTIATION; DRUG SAFETY; DRUG TOLERABILITY; DYSPEPSIA; EDEMA; ELECTROLYTE DISTURBANCE; ESSENTIAL TREMOR; EXTRAPYRAMIDAL SYMPTOM; EYE MOVEMENT DISORDER; FLUID INTAKE; GASTROINTESTINAL SYMPTOM; GASTROINTESTINAL TRACT FUNCTION; HEADACHE; HEART ARRHYTHMIA; HEART VENTRICLE HYPERTROPHY; HEREDITARY ATAXIA; HUMAN; HYPONATREMIA; INDEPENDENCE; KIDNEY DISEASE; LIBIDO DISORDER; LIFESTYLE; LIVER TOXICITY; LOW DRUG DOSE; METABOLIC ACIDOSIS; MOOD DISORDER; MOTOR COORDINATION; NAUSEA; NEPHROLITHIASIS; NEUROLOGIC DISEASE; NYSTAGMUS; OPTIC NEURITIS; PANCYTOPENIA; PARESTHESIA; PERIPHERAL NEUROPATHY; RASH; REVIEW; SEDATION; SEROTONIN SYNDROME; SIDE EFFECT; SPEECH THERAPY; STEREOTAXIC SURGERY; SURGICAL INFECTION; THALAMOTOMY; TREATMENT OUTCOME; TREMOR; TUBERCULOSIS; VESTIBULAR DISORDER; VOMITING; WEIGHT REDUCTION;

EID: 77956393765     PISSN: 10928480     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11940-010-0075-8     Document Type: Review

References (55)

1. Finsterer J: Ataxias with autosomal, X-chromosomal or maternal inheritance. Can J Neurol Sci 2009, 36:409-428. This is an excellent recent review of the inherited ataxias, most notable for its thoroughness and numerous useful summary tables. The author also presents an interesting synthesized classification of ataxias based on phenotypic groups.
2. Bürk K, Mälzig U, Wolf S, et al.: Comparison of three clinical rating scales in Friedreich ataxia (FRDA). Mov Disord 2009, 24:1779-1784.
3. Friedman LS, Farmer JM, Perlman S, et al.: Measuring the rate of progression in Friedreich ataxia: Implications for clinical trial design. Mov Disord 2010, 25:426-432. The natural history of Friedreich's ataxia is being studied prospectively by a multicenter collaborative research team in the United States, and this report outlines the 2-year data from a cohort of 236 patients. Such data are crucial for designing future treatment trials.
4. Schmitz-Hübsch T, Coudert M, Bauer P, et al.: Spinocerebellar ataxia types 1, 2, 3, and 6: Disease severity and nonataxia symptoms. Neurology 2008, 71:982-989. This paper explores the covariance of disease factors on disease severity, and found that SCA6 tends to act differently than SCA1, 2, and 3.
5. Perlman SL: Cerebellar ataxia. Curr Treat Options Neurol 2000, 2:215-224.
6. Trujillo-Martin MM, Serrano-Aguilar P, Monton- Alvarez F, Carrillo-Fumero R: Effectiveness and safety of treatments for degenerative ataxias: A systematic review. Mov Disord 2009, 24:1111-1124. A well-organized and researched review of ataxia treatment options.
7. MacGilchrist AJ, Mills PR, Noble M, et al.: Abetalipoproteinaemia in adults. Role of vitamin therapy. J Inherit Metab Dis 1988, 11:184-190.
8. Sedel F, Lyon-Caen O, Saudubray JM: Therapy insight: Inborn errors of metabolism in adult neurology- a clinical approach focused on treatable diseases. Nat Clin Pract Neurol 2007, 3:279-290.
9. Di Prospero NA, Baker A, Jeffries N, Fischbeck KH: Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: A randomized, placebo- controlled trial. Lancet Neurol 2007, 6:878-886. This is a report of a landmark study in ataxia research, the first truly well-designed therapeutic trial for an inherited ataxia. Although idebenone had previously been thought of as an antioxidant that might provide neuroprotection, the trial design was only sensitive to symptomatic effects and these were found. A relatively small number of subjects and a single-site design are the only caveats to be considered.
10. Cooper JM, Korlipara LV, Hart PE, et al.: 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.
11. Schöls L, Zange J, Abele M, et al.: L-carnitine and creatine in Friedreich's ataxia. A randomized, placebocontrolled crossover trial. J Neural Transm 2005, 112:789-796.
12. Sorbi S, Forleo P, Fani C, Piacentini S: Double-blind, crossover, placebo-controlled clinical trial with Lacetylcarnitine in patients with degenerative cerebellar ataxia. Clin Neuropharmacol 2000, 23:114-118.
13. Currier RD, Collins GM, Subramony SH: Treatment of hereditary ataxia with the levorotatory form of hydroxytryptophan. Arch Neurol 1995, 52:440-441.
14. Yabe I, Sasaki H, Yamashita I, et al.: Clinical trial of acetazolamide in SCA6, with assessment using the Ataxia Rating Scale and body stabilometry. Acta Neurol Scand 2001, 104:44-47.
15. BotezMI, Botez-Marquard T, Elie R, et al.: Amantadine hydrochloride treatment in heredodegenerative ataxias: A double blind study. J Neurol Neurosurg Psychiatry 1996, 61:259-264.
16. Filla A, DeMichele G, Orefice G, et al.: A double-blind cross-over trial of amantadine hydrochloride in Friedreich's ataxia. Can J Neurol Sci 1993, 20:52-55.
17. Peterson PL, Saad J, Nigro MA: The treatment of Friedreich's ataxia with amantadine hydrochloride. Neurology 1988, 38:1478-1480.
18. Assadi M, Campellone JV, Janson CG, et al.: Treatment of spinocerebellar ataxia with buspirone. J Neurol Sci 2007, 260:143-146.
19. Andrade-Filho AS, Passos-Almeida J, Andrade-Souza VM, Sena-Pereira LR: Buspirone chlorhydrate in the treatment of cerebellar ataxia. Rev Neurol 2002, 35:301-305.
20. Kark RA, Budelli MM, Wachsner R: Double-blind, triple-crossover trial of low doses of oral physostigmine in inherited ataxias. Neurology 1981, 31:288-292.
21. Sechi GP: Treatment of cerebellar tremors with carbamazepine: A controlled trial with long-term follow-up. Neurology 1989, 39:1113-1115.
22. Trelles L, Trelles JO, Castro C, et al.: Successful treatment of two cases of intention tremor with clonazepam. Ann Neurol 1984, 16:621.
23. Hallett M, Lindsey JW, Adelstein BD, Riley PO: Controlled trial of isoniazid therapy for severe postural cerebellar tremor in multiple sclerosis. Neurology 1985, 35:1374-1377.
24. Duquette P, Pleines J, du Souich P: Isoniazid for tremor in multiple sclerosis: A controlled trial. Neurology 1985, 35:1772-1775.
25. Bozek CB, Kastrukoff LF, Wright JM, et al.: A controlled trial of isoniazid therapy for action tremor in multiple sclerosis. J Neurol 1987, 234:36-39.
26. Striano P, Coppola A, Vacca G, et al.: Levetiracetam for cerebellar tremor in multiple sclerosis: An openlabel pilot tolerability and efficacy study. J Neurol 2006, 253:762-766.
27. Henkin Y, Herishanu YO: Primidone as a treatment for cerebellar tremor in multiple sclerosis-two case reports. Isr J Med Sc 1989, 25:720-721.
28. Sechi G, Agnetti V, Sulas FM, et al.: Effects of topiramate in patients with cerebellar tremor. Prog Neuropsychopharmacol Biol Psychiatry 2003, 27:1023-1027.
29. Connor GS, Edwards K, Tarsy D: Topiramate in essential tremor: Findings from double-blind, placebo-controlled, crossover trials. Clin Neuropharmacol 2008, 31:97-103.
30. Strupp M, Schüler O, Krafczyk S, et al.: Treatment of downbeat nystagmus with 3, 4-diaminopyridine: A placebo-controlled study. Neurology 2003, 61:165-170.
31. Flet L, Polard E, Guillard O, et al.: 3,4-Diaminopyridine safety in clinical practice: An observational, retrospective cohort study. J Neurol 2010 Jan 8 [Epub ahead of print].
32. Kalla R, Glasauer S, Büttner U, et al.: 4-aminopyridine restores vertical and horizontal neural integrator function in downbeat nystagmus. Brain 2007, 130:2441-2451.
33. Comer RM, Dawson EL, Lee JP: Baclofen for patients with congenital periodic alternating nystagmus. Strabismus 2006, 14:205-209.
34. Starck M, Albrecht H, Pöllmann W, et al.: Acquired pendular nystagmus in multiple sclerosis: An examiner- blind cross-over treatment study of memantine and gabapentin. J Neurol 2010, 257:322-327.
35. McLean R, Proudlock F, Thomas S, et al.: Congenital nystagmus: Randomized, controlled, doublemasked trial of memantine/gabapentin. Ann Neurol 2007, 61:130-138.
36. Shery T, Proudlock FA, Sarvananthan N, et al.: The effects of gabapentin and memantine in acquired and congenital nystagmus: A retrospective study. Br J Ophthalmol 2006, 90:839-843.
37. Wenning GK, Geser F, Poewe W: Therapeutic strategies in multiple system atrophy. Mov Disord 2005, 20(Suppl 12):S67-S76.
38. Furtado S, Payami H, Lockhart PJ, et al.: Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2). Mov Disord 2004, 19:622-629.
39. Jankovic J: Treatment of hyperkinetic movement disorders. Lancet Neurol 2009, 8:844-856. This is an excellent review of treatment options for the hyperkinetic movement disorders.
40. Iranzo A, Santamaría J, Rye DB, et al.: Characteristics of idiopathic REM sleep behavior disorder and that associated with MSA and PD. Neurology 2005, 65:247-252.
41. Tuin I, Voss U, Kang JS, et al.: Stages of sleep pathology in spinocerebellar ataxia type 2 (SCA2). Neurology 2006, 67:1966-1972.
42. Friedman JH, Fernandez HH, Sudarsky LR: REM behavior disorder and excessive daytime somnolence in Machado-Joseph disease (SCA-3). Mov Disord 2003, 18:1520-1522.
43. Ben Smail D, Jacq C, Denys P, Bussel B: Intrathecal baclofen in the treatment of painful, disabling spasms in Friedreich's ataxia. Mov Disord 2005, 20:758-759.
44. Yap L, Kouyialis A, Varma TR: Stereotactic neurosurgery for disabling tremor in multiple sclerosis: Thalamotomy or deep brain stimulation? Br J Neurosurg 2007, 21:349-354.
45. Ilg W, Synofzik M, Brötz D, et al.: Intensive coordinative training improves motor performance in degenerative cerebellar disease. Neurology 2009, 73:1823-1830. Although most ataxia specialists feel that there is likely to be some benefit to physical training for improved coordination and gait, the data supporting this contention is quite sparse. The field was advanced significantly by this study, in which intensive training was found to improve stance and gait parameters and interlimb coordination. Benefits were less significant for patients with afferent dysfunction, as might be expected.
46. Boddaert N, Le Quan Sang KH, Rötig A, et al.: Selective iron chelation in Friedreich ataxia: Biologic and clinical implications. Blood 2007, 110:401-408.
47. Boesch S, Sturm B, Hering S, et al.: Neurological effects of recombinant human erythropoietin in Friedreich's ataxia: A clinical pilot trial. Mov Disord 2008, 23:1940-1944.
48. Zesiewicz TA, Sullivan KL, Gooch CL, Lynch DR: Subjective improvement in proprioception in 2 patients with atypical Friedreich ataxia treated with varenicline (Chantix). J Clin Neuromuscul Dis 2009, 10:191-193.
49. Zesiewicz TA, Sullivan KL: Treatment of ataxia and imbalance with varenicline (Chantix): Report of 2 patients with spinocerebellar ataxia (types 3 and 14). Clin Neuropharmacol 2008, 31:363-365.
50. Zesiewicz TA, Sullivan KL, Freeman A, Juncos JL: Treatment of imbalance with varenicline Chantix (R): Report of a patient with fragile X tremor/ataxia syndrome. Acta Neurol Scand 2009, 119:135-138.
51. Marmolino D, Acquaviva F: Friedreich's Ataxia: From the (GAA)n repeat mediated silencing to new promising molecules for therapy. Cerebellum 2009, 8:245-259. This paper reviews the exciting area of translational research in which candidate therapies for FRDA are being developed based on their ability to increase the level of expression of frataxin, which is depleted in the disease.
52. Liu J, Tang TS, Tu H, et al.: Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2. J Neurosci 2009, 29:9148-9162.
53. Xia H, Mao Q, Eliason SL, et al.: RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia. Nat Med 2004, 10:816-820.
54. Farah MH: RNAi silencing in mouse models of neurodegenerative diseases. Curr Drug Deliv 2007, 4:161-167. Many neurodegenerative diseases, the SCAs included, likely involve toxic gain of function mutations, and therefore strategies to reduce expression of the mutated gene may lead to successful treatments. This review summarizes the potential role of RNA interference in this process.
55. Watase K, Gatchel JR, Sun Y, et al.: Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model. PLoS Med 2007, 4:e182.