Huntington's disease phenocopy syndromes

Current Opinion in Neurology

Volumn 20, Issue 6, 2007, Pages 681-687

  Wild, Edward J ^a   Tabrizi, Sarah J ^a  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

Huntington's disease; Huntington's disease like; Neuroferritinopathy; Phenocopy; SCA17

Indexed keywords

ATAXIN 1; ATAXIN 3; ATROPHIN 1; CHOREIN; CREATINE KINASE; FERRITIN; HUNTINGTIN; IRON; JUNTOCPHILIN 3; OCTAPEPTIDE; PRION PROTEIN; PROTEIN; TATA BINDING PROTEIN; UBIQUITIN; UNCLASSIFIED DRUG;

ACANTHOCYTOSIS; BRAIN ATROPHY; CHOREA; CHOREA ACANTHOCYTOSIS; COHORT ANALYSIS; DEGENERATIVE DISEASE; DENTATORUBROPALLIDOLUYSIAN ATROPHY; DIFFERENTIAL DIAGNOSIS; DNA MODIFICATION; DYSTONIA; FRIEDREICH ATAXIA; GENETICS; HUMAN; HUNTINGTON CHOREA; HUNTINGTON DISEASE LIKE SYNDROME 1; HUNTINGTON DISEASE LIKE SYNDROME 2; HUNTINGTON DISEASE LIKE SYNDROME 3; NEUROACANTHOCYTOSIS; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NEUROFERRITINOPATHY; OCCIPITAL ATROPHY; PANTOTHENATE KINASE ASSOCIATED NEURODEGENERATION; PATHOGENESIS; PHENOTYPE; PRION DISEASE; REVIEW; SPINOCEREBELLAR DEGENERATION; TRANSCRIPTION REGULATION;

DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HUNTINGTON DISEASE; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; PHENOTYPE; PRION DISEASES; SYNDROME;

EID: 36048961737     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/WCO.0b013e3282f12074     Document Type: Review

References (35)

1. Andrew SE, Goldberg YP, Kremer B, et al. Huntington disease without CAG expansion: phenocopies or errors in assignment? Am J Hum Genet 1994; 54:852-863.
2. Kremer B, Goldberg P, Andrew SE, et al. A Worldwide Study of the Huntington's Disease Mutation: the sensitivity and specificity of measuring CAG repeats. N Engl J Med 1994; 330:1401-1406.
3. Bates G, Harper PS, Jones L (editors). Huntington's disease, 3rd ed. Oxford: Oxford University Press; 2002.
4. The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993; 72:971-983.
5. Moore RC, Xiang F, Monaghan J, et al. Huntington disease phenocopy is a familial prion disease. Am J Hum Genet 2001; 69:1385-1388.
6. Stevanin G, Fujigasaki H, Lebre A-S, et al. Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. Brain 2003; 126:1599-1603.
7. Costa MdC, Andreia T-C, Marco C, et al. Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype. J Hum Genet 2006; 51:645-651.
8. Keckarevic M, Savic D, Svetel M, et al. Yugoslav HD phenocopies analyzed on the presence of mutations in PrP, ferritin, and Jp-3 genes. Int J Neurosci 2005; 115:299-301.
9. Margolis RL, Holmes SE, Rosenblatt A, et al. Huntington's disease-like 2 (HDL2) in North America and Japan. Ann Neurol 2004; 56:670-674.
10. Vuillaume I, Meynieu P, Schraen-Maschke S, et al. Absence of unidentified CAG repeat expansion in patients with Huntington's disease-like phenotype. J Neurol Neurosurg Psychiatry 2000; 68:672-675.
11. Piccolo I, Defanti CA, Soliveri P, et al. Cause and course in a series of patients with sporadic chorea. J Neurol 2003; 250:429-435.
12. Mead S, Poulter M, Beck J, et al. Inherited prion disease with six octapeptide repeat insertional mutation-molecular analysis of phenotypic heterogeneity. Brain 2006; 129:2297-2317.
13. Margolis RL, O'Hearn E, Rosenblatt A, et al. A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion. Ann Neurol 2001; 50:373-380.
14. Krause A, Hetem C, Holmes SE, Margolis RL. HDL2 mutations are an important cause of Huntington's disease in patients with African ancestry. J Neurol Neurosurg Psychiatry 2005; 76:A16-A26.
15. Walker RH, Jankovic J, O'Hearn E, Margolis RL. Phenotypic features of Huntington's disease-like 2. Mov Disord 2003; 18:1527-1530.
16. Greenstein PE, Vonsattel J-PG, Margolis RL, Joseph JT. Huntington's disease like-2 neuropathology. Mov Disord 2007; 22:1416-1423.
17. Al-Tahan AY, Divakaran MP, Kambouris M, et al. A novel autosomal recessive 'Huntington's disease-like' neurodegenerative disorder in a Saudi family. Saudi Med J 1999; 20:85-89.
18. Kambouris M, Bohlega S, Al-Tahan A, Meyer BF. Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3. Am J Hum Genet 2000; 66:445-452.
19. Schols L, Bauer P, Schmidt T, et al. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 2004; 3:291-304.
20. Richfield EK, Vonsattel J-P, MacDonald ME, et al. Selective loss of striatal preprotachykinin neurons in a phenocopy of Huntington's disease. Mov Disord 2002; 17:327-332.
21. Schneider SA, van de Warrenburg BPC, Hughes TD, et al. Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 family. Neurology 2006; 67:1701-1703. This paper presents a detailed study of a family with several affected members examined by SCA17, highlighting the tendency of cases within a single pedigree to present similarly.
22. Koide R, Kobayashi S, Shimohata T, et al. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? Hum Mol Genet 1999; 8:2047-2053.
23. Kao CC, Lieberman PM, Schmidt MC, et al. Cloning of a transcriptionally active human TATA binding factor. Science 1990; 248:1646-1650.
24. Cha JH. Transcriptional dysregulation in Huntington's disease. Trends Neurosci 2000; 23:387-392.
25. Loy CT, Sweeney MG, Davis MB, et al. Spinocerebellar ataxia type 17: Extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging. Mov Disord 2005; 20:1521-1523.
26. Becher MW, Rubinsztein DC, Leggo J, et al. Dentatorubral and pallidoluysian atrophy (DRPLA): clinical and neuropathological findings in genetically confirmed North American and European pedigrees. Mov Disord 1997; 12:519-530.
27. Koide R, Onodera O, Ikeuchi T, et al. Atrophy of the cerebellum and brainstem in dentatorubral pallidoluysian atrophy. Influence of CAG repeat size on MRI findings. Neurology 1997; 49:1605-1612.
28. Chinnery PF, Crompton DE, Birchall D, et al. Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. Brain 2007; 130:110-119. This is a useful and thorough study of the genetic, clinical and radiological characteristics of neuroferritinopathy patients, including MRI changes in premanifest mutation carriers.
29. Hartig MB, Hörtnagel K, Garavaglia B, et al. Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. Ann Neurol 2006; 59:248-256. This is an informative review of the features of patients with NBIA/PKAN.
30. Ueno S, Maruki Y, Nakamura M, et al. The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nat Genet 2001; 28:121-122.
31. Danek A, Walker RH. Neuroacanthocytosis. Curr Opin Neurol 2005; 18:386-392.
32. Breedveld GJ, Percy AK, MacDonald ME, et al. Clinical and genetic heterogeneity in benign hereditary chorea. Neurology 2002; 59:579-584.
33. Breedveld GJ, van Dongen JW, Danesino C, et al. Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet 2002; 11:971-979.
34. Kleiner-Fisman G, Rogaeva E, Halliday W, et al. Benign hereditary chorea: clinical, genetic, and pathological findings. Ann Neurol 2003; 54:244-247.
35. International Huntington Association and World Federation of Neurology Research Group on Huntington's Chorea. Guidelines for the molecular genetics predictive test in Huntington's disease. Neurology 1994; 44:1533-1536.