UpToDate
Official reprint from UpToDate®
www.uptodate.com ©2016 UpToDate®

Bradykinetic movement disorders in children

Author
Joseph Jankovic, MD
Section Editors
Marc C Patterson, MD, FRACP
Helen V Firth, DM, FRCP, DCH
Deputy Editor
John F Dashe, MD, PhD

INTRODUCTION

Movement disorders are characterized by either reduced (bradykinetic) or excessive (hyperkinetic) activity. Bradykinetic movement disorders frequently are accompanied by rigidity, postural instability, and loss of automatic associated movements. Diagnosis of the specific condition depends primarily upon careful observation of the clinical features [1].

Bradykinetic disorders are reviewed here. Many such disorders, mostly rare, exist and only four are discussed here:

Parkinson disease

Wilson disease

Huntington disease

               

Subscribers log in here

To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information or to purchase a personal subscription, click below on the option that best describes you:
Literature review current through: Nov 2016. | This topic last updated: Wed Aug 12 00:00:00 GMT+00:00 2015.
The content on the UpToDate website is not intended nor recommended as a substitute for medical advice, diagnosis, or treatment. Always seek the advice of your own physician or other qualified health care professional regarding any medical questions or conditions. The use of this website is governed by the UpToDate Terms of Use ©2016 UpToDate, Inc.
References
Top
  1. Jankovic J, Lang AE. Movement disorders: Diagnosis and assessment. In: Neurology in Clinical Practice, 5th ed, Bradley WG, Daroff RB, Fenichel GM, Jankovic J (Eds), Butterworth-Heinemann (Elsevier), Philadelphia 2008. p.293.
  2. Macedo MG, Verbaan D, Fang Y, et al. Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease. Mov Disord 2009; 24:196.
  3. Broussolle E, Lücking CB, Ginovart N, et al. [18 F]-dopa PET study in patients with juvenile-onset PD and parkin gene mutations. Neurology 2000; 55:877.
  4. Jankovic J. Treatment of hyperkinetic movement disorders. Lancet Neurol 2009; 8:844.
  5. Hendricks AE, Latourelle JC, Lunetta KL, et al. Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG). Am J Med Genet A 2009; 149A:1375.
  6. Maat-Kievit A, Losekoot M, Zwinderman K, et al. Predictability of age at onset in Huntington disease in the Dutch population. Medicine (Baltimore) 2002; 81:251.
  7. Adam OR, Jankovic J. Symptomatic treatment of Huntington disease. Neurotherapeutics 2008; 5:181.
  8. Jankovic J, Clarence-Smith K. Tetrabenazine for the treatment of chorea and other hyperkinetic movement disorders. Expert Rev Neurother 2011; 11:1509.
  9. Frank S, Jankovic J. Advances in the pharmacological management of Huntington's disease. Drugs 2010; 70:561.
  10. Walker FO. Huntington's disease. Lancet 2007; 369:218.
  11. Roze E, Saudou F, Caboche J. Pathophysiology of Huntington's disease: from huntingtin functions to potential treatments. Curr Opin Neurol 2008; 21:497.
  12. Jeong H, Then F, Melia TJ Jr, et al. Acetylation targets mutant huntingtin to autophagosomes for degradation. Cell 2009; 137:60.
  13. McNeill A, Birchall D, Hayflick SJ, et al. T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology 2008; 70:1614.
  14. Schneider SA, Hardy J, Bhatia KP. Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations. Mov Disord 2012; 27:42.
  15. Walker RH, Jung HH, Dobson-Stone C, et al. Neurologic phenotypes associated with acanthocytosis. Neurology 2007; 68:92.
  16. Gregory A, Hayflick SJ. Genetics of neurodegeneration with brain iron accumulation. Curr Neurol Neurosci Rep 2011; 11:254.
  17. Schneider SA, Dusek P, Hardy J, et al. Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA). Curr Neuropharmacol 2013; 11:59.
  18. Dusek P, Jankovic J, Le W. Iron dysregulation in movement disorders. Neurobiol Dis 2012; 46:1.
  19. Zhou B, Westaway SK, Levinson B, et al. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet 2001; 28:345.
  20. Schulte EC, Claussen MC, Jochim A, et al. Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation. Mov Disord 2013; 28:224.
  21. Hartig MB, Iuso A, Haack T, et al. Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. Am J Hum Genet 2011; 89:543.
  22. Hogarth P, Gregory A, Kruer MC, et al. New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. Neurology 2013; 80:268.
  23. Dezfouli MA, Alavi A, Rohani M, et al. PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation. Mov Disord 2013; 28:228.
  24. Hayflick SJ, Kruer MC, Gregory A, et al. β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain 2013; 136:1708.
  25. Haack TB, Hogarth P, Kruer MC, et al. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet 2012; 91:1144.
  26. Kimura Y, Sato N, Sugai K, et al. MRI, MR spectroscopy, and diffusion tensor imaging findings in patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA). Brain Dev 2013; 35:458.
  27. Saitsu H, Nishimura T, Muramatsu K, et al. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet 2013; 45:445.
  28. Kruer MC, Paisán-Ruiz C, Boddaert N, et al. Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol 2010; 68:611.
  29. Williams DR, Hadeed A, al-Din AS, et al. Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia. Mov Disord 2005; 20:1264.
  30. Lees AJ, Singleton AB. Clinical heterogeneity of ATP13A2 linked disease (Kufor-Rakeb) justifies a PARK designation. Neurology 2007; 68:1553.
  31. Behrens MI, Brüggemann N, Chana P, et al. Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations. Mov Disord 2010; 25:1929.
  32. Chinnery PF, Crompton DE, Birchall D, et al. Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. Brain 2007; 130:110.
  33. Harris ZL, Takahashi Y, Miyajima H, et al. Aceruloplasminemia: molecular characterization of this disorder of iron metabolism. Proc Natl Acad Sci U S A 1995; 92:2539.
  34. Morita H, Ikeda S, Yamamoto K, et al. Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family. Ann Neurol 1995; 37:646.
  35. Woodhouse NJ, Sakati NA. A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities. J Med Genet 1983; 20:216.
  36. Alazami AM, Al-Saif A, Al-Semari A, et al. Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. Am J Hum Genet 2008; 83:684.
  37. Gregory A, Hayflick S. Neurodegeneration with brain iron accumulation disorders overview. GeneReviews. www.ncbi.nlm.nih.gov/books/NBK121988/ (Accessed on September 24, 2013).
  38. Pellecchia MT, Valente EM, Cif L, et al. The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration. Neurology 2005; 64:1810.
  39. Hayflick SJ, Westaway SK, Levinson B, et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med 2003; 348:33.
  40. Stamelou M, Lai SC, Aggarwal A, et al. Dystonic opisthotonus: a "red flag" for neurodegeneration with brain iron accumulation syndromes? Mov Disord 2013; 28:1325.
  41. Kruer MC, Boddaert N, Schneider SA, et al. Neuroimaging features of neurodegeneration with brain iron accumulation. AJNR Am J Neuroradiol 2012; 33:407.
  42. Kruer MC, Hiken M, Gregory A, et al. Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration. Brain 2011; 134:947.