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referencesuptodate· REFERENCES· item f15_36_15943

REFERENCES 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. 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. 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. Jankovic J. Treatment of hyperkinetic movement disorders. Lancet Neurol 2009; 8:844. 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. 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. Adam OR, Jankovic J. Symptomatic treatment of Huntington disease. Neurotherapeutics 2008; 5:181. Jankovic J, Clarence-Smith K. Tetrabenazine for the treatment of chorea and other hyperkinetic movement disorders. Expert Rev Neurother 2011; 11:1509. Frank S, Jankovic J. Advances in the pharmacological management of Huntington's disease. Drugs 2010; 70:561. Walker FO. Huntington's disease. Lancet 2007; 369:218. Roze E, Saudou F, Caboche J. Pathophysiology of Huntington's disease: from huntingtin functions to potential treatments. Curr Opin Neurol 2008; 21:497. Jeong H, Then F, Melia TJ Jr, et al. Acetylation targets mutant huntingtin to autophagosomes for degradation. Cell 2009; 137:60. 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. 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. Walker RH, Jung HH, Dobson-Stone C, et al. Neurologic phenotypes associated with acanthocytosis. Neurology 2007; 68:92. Gregory A, Hayflick SJ. Genetics of neurodegeneration with brain iron accumulation. Curr Neurol Neurosci Rep 2011; 11:254.

referencesuptodate· REFERENCES· item f15_36_15943

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. Walker RH, Jung HH, Dobson-Stone C, et al. Neurologic phenotypes associated with acanthocytosis. Neurology 2007; 68:92. Gregory A, Hayflick SJ. Genetics of neurodegeneration with brain iron accumulation. Curr Neurol Neurosci Rep 2011; 11:254. Dusek P, Jankovic J, Le W. Iron dysregulation in movement disorders. Neurobiol Dis 2012; 46:1. 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. 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. 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. 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. 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. Pellecchia MT, Valente EM, Cif L, et al. The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration. Neurology 2005; 64:1810. Hayflick SJ, Westaway SK, Levinson B, et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med 2003; 348:33. Gregory A, Hayflick SJ. Pantothenate kinase-associated neurodegeneration. GeneReviews. www.ncbi.nlm.nih.gov/books/NBK1490/ (Accessed on April 11, 2011). Kruer MC, Hiken M, Gregory A, et al. Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration. Brain 2011; 134:947. Topic 6231 Version 4.0 © 2013 UpToDate, Inc. All rights reserved. | Subscription and License Agreement | Release: 21.6- C21.56 Licensed to: AsanBook Dig. Med. Lib. | Support Tag: [0502-61.234.146.186-4784E7D639-S244013.14]