PET and MRI reveal early evidence of neurodegeneration in spinocerebellar ataxia type 17

Journal of Nuclear Medicine

Volumn 53, Issue 7, 2012, Pages 1074-1080

  Brockmann, Kathrin ^a,b   Reimold, Matthias ^c   Globas, Christoph ^a   Hauser, Till Karsten ^c   Walter, Uwe ^b   Machulla, Hans Jürgen ^c   Rolfs, Arndt ^b   Schöls, Ludger ^a,d  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY OF ROSTOCK   (Germany)

^c UNIVERSITY OF TÜBINGEN   (Germany)

^d GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

Author keywords

Ataxia; Biomarker; Neurodegeneration; Positron emission tomography

Indexed keywords

CARBON 11; DEXMETHYLPHENIDATE; DEXMETHYLPHENIDATE C 11; FLUORODEOXYGLUCOSE F 18; RACLOPRIDE C 11; UNCLASSIFIED DRUG;

ADULT; ANATOMICAL VARIATION; ARTICLE; CAUDATE NUCLEUS; CEREBELLUM ATROPHY; CLINICAL ARTICLE; CLINICAL ASSESSMENT TOOL; COGNITION; CONTROLLED STUDY; CORPUS STRIATUM; CUNEUS; DIAGNOSTIC IMAGING; DOPAMINERGIC SYSTEM; FEMALE; GLUCOSE METABOLISM; HUMAN; IMAGE ANALYSIS; MALE; MINI MENTAL STATE EXAMINATION; MORPHOLOGY; MOTOR PERFORMANCE; NUCLEAR MAGNETIC RESONANCE IMAGING; OUTCOME ASSESSMENT; PARIETAL LOBE; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; SCALE FOR THE ASSESSMENT AND RATING OF ATAXIA; SPINOCEREBELLAR ATAXIA TYPE 17; SPINOCEREBELLAR DEGENERATION; UNIFIED PARKINSON DISEASE RATING SCALE; VOLUMETRY;

ADULT; AGE OF ONSET; BRAIN; DOPAMINE AGENTS; DOPAMINE ANTAGONISTS; DOPAMINERGIC NEURONS; FEMALE; FLUORODEOXYGLUCOSE F18; GLUCOSE; HETEROZYGOTE; HUMANS; IMAGE PROCESSING, COMPUTER-ASSISTED; MAGNETIC RESONANCE IMAGING; MALE; METHYLPHENIDATE; MIDDLE AGED; MUTATION; NEURODEGENERATIVE DISEASES; NEUROPSYCHOLOGICAL TESTS; POSITRON-EMISSION TOMOGRAPHY; RACLOPRIDE; RADIOPHARMACEUTICALS; SPINOCEREBELLAR ATAXIAS;

EID: 84863456728     PISSN: 01615505     EISSN: None     Source Type: Journal    
DOI: 10.2967/jnumed.111.101543     Document Type: Article

References (38)

1. Nakamura K, Jeong SY, Uchihara T, et al. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet. 2001;10:1441-1448. (Pubitemid 32684885)
2. Nolte D, Sobanski E, Wissen A, Regula JU, Lichy C, Muller U. Spinocerebellar ataxia type 17 associated with an expansion of 42 glutamine residues in TATA-box binding protein gene. J Neurol Neurosurg Psychiatry. 2010;81:1396-1399.
3. Rolfs A, Koeppen AH, Bauer I, et al. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol. 2003;54:367-375. (Pubitemid 37072039)
4. Zühlke C, Burk K. Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein. Cerebellum. 2007;19:1-8.
5. Stevanin G, Fujigasaki H, Lebre AS, et al. Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. Brain. 2003;126:1599-1603. (Pubitemid 36834936)
6. Zühlke C, Gehlken U, Hellenbroich Y, Schwinger E, Burk K. Phenotypical variability of expanded alleles in the TATA-binding protein gene: reduced penetrance in SCA17? J Neurol. 2003;250:161-163. (Pubitemid 36223089)
7. Mariotti C, Alpini D, Fancellu R, et al. Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients. J Neurol. 2007;254:1538-1546. (Pubitemid 350159897)
8. Hernandez D, Hanson M, Singleton A, et al. Mutation at the SCA17 locus is not a common cause of parkinsonism. Parkinsonism Relat Disord. 2003;9:317-320. (Pubitemid 36809032)
9. Lasek K, Lencer R, Gaser C, et al. Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17). Brain. 2006;129:2341-2352. (Pubitemid 44522119)
10. Bruni AC, Takahashi-Fujigasaki J, Maltecca F, et al. Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation. Arch Neurol. 2004;61:1314-1320. (Pubitemid 39062691)
11. Fujigasaki H, Martin JJ, De Deyn PP, et al. CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia. Brain. 2001;124:1939-1947. (Pubitemid 32945895)
12. Schöls L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol. 2004;3: 291-304. (Pubitemid 38510200)
13. Schmitz-Hubsch T, du Montcel ST, Baliko L, et al. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology. 2006;66:1717-1720. (Pubitemid 43964628)
14. Fahn S, Elton RL. UPDRS program members. Unified Parkinsons Disease Rating Scale. In: Fahn S, Marsden CD, Goldstein M, Calne DB, eds. Recent Developments in Parkinson's Disease. Vol 2. Florham Park, NJ: Macmillan Healthcare Information; 1987:153-163.
15. Folstein MF, Folstein SE, McHugh PR. "Mini-mental state": a practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res. 1975;12:189-198.
16. Gröschel K, Hauser TK, Luft A, et al. Magnetic resonance imaging-based volumetry differentiates progressive supranuclear palsy from corticobasal degeneration. Neuroimage. 2004;21:714-724. (Pubitemid 38229934)
17. Hauser TK, Luft A, Skalej M, et al. Visualization and quantification of disease progression in multiple system atrophy. Mov Disord. 2006;21:1674-1681. (Pubitemid 44742197)
18. Schulz JB, Skalej M, Wedekind D, et al. Magnetic resonance imaging-based volumetry differentiates idiopathic Parkinson's syndrome from multiple system atrophy and progressive supranuclear palsy. Ann Neurol. 1999;45:65-74. (Pubitemid 29036434)
19. Innis RB, Cunningham VJ, Delforge J, et al. Consensus nomenclature for in vivo imaging of reversibly binding radioligands. J Cereb Blood Flow Metab. 2007; 27:1533-1539. (Pubitemid 47301451)
20. Logan J, Fowler JS, Volkow ND, Wang GJ, Ding YS, Alexoff DL. Distribution volume ratios without blood sampling from graphical analysis of PET data. J Cereb Blood Flow Metab. 1996;16:834-840. (Pubitemid 26292051)
21. Lammertsma AA, Hume SP. Simplified reference tissue model for PET receptor studies. Neuroimage. 1996;4:153-158.
22. Reimold M, Slifstein M, Heinz A, Mueller-Schauenburg W, Bares R. Effect of spatial smoothing on t-maps: arguments for going back from t-maps to masked contrast images. J Cereb Blood Flow Metab. 2006;26:751-759.
23. 18F]FDG-PET. Mov Disord. 2009;24:1504-1511.
24. Herholz KAR, Kessler J, Szelies B, Grond M, Heiss W-D. Criteria for the diagnosis of Alzheimer's disease with positron emission tomography. Dementia. 1990;1:156-164. (Pubitemid 20384149)
25. Reetz K, Lencer R, Hagenah JM, et al. Structural changes associated with progression of motor deficits in spinocerebellar ataxia 17. Cerebellum. 2010;9:210-217.
26. van Oostrom JC, Dekker M, Willemsen AT, de Jong BM, Roos RA, Leenders KL. Changes in striatal dopamine D2 receptor binding in pre-clinical Huntington's disease. Eur J Neurol. 2009;16:226-231.
27. van Oostrom JC, Maguire RP, Verschuuren-Bemelmans CC, et al. Striatal dopamine D2 receptors, metabolism, and volume in preclinical Huntington disease. Neurology. 2005;65:941-943.
28. Minnerop M, Joe A, Lutz M, et al. Putamen dopamine transporter and glucose metabolism are reduced in SCA17. Ann Neurol. 2005;58:490-491. (Pubitemid 41266642)
29. Lin IS, Wu RM, Lee-Chen GJ, Shan DE, Gwinn-Hardy K. The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment. Parkinsonism Relat Disord. 2007;13:246-249. (Pubitemid 46603028)
30. Salvatore E, Varrone A, Sansone V, et al. Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17. Mov Disord. 2006;21:872-875. (Pubitemid 44028314)
31. Kim JY, Kim SY, Kim JM, et al. Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism. Neurology. 2009;72:1385-1389.
32. Varrone A, Salvatore E, De Michele G, et al. Reduced striatal [123I]FP-CIT binding in SCA2 patients without parkinsonism. Ann Neurol. 2004;55:426-430. (Pubitemid 38269596)
33. 11C-raclopride and positron emission tomography. Ann Neurol. 1992;31:184-192.
34. Ghaemi M, Hilker R, Rudolf J, Sobesky J, Heiss WD. Differentiating multiple system atrophy from Parkinson's disease: contribution of striatal and midbrain MRI volumetry and multi-tracer PET imaging. J Neurol Neurosurg Psychiatry. 2002;73:517-523. (Pubitemid 35246803)
35. 123I-IBZM single photon emission computed tomography. Arch Neurol. 1993;50:513-516.
36. Dürr A, Stevanin G, Cancel G, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol. 1996;39:490-499. (Pubitemid 26118004)
37. Estrada R, Galarraga J, Orozco G, Nodarse A, Auburger G. Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies. Acta Neuropathol. 1999;97:306-310. (Pubitemid 29137281)
38. Pang JT, Giunti P, Chamberlain S, et al. Neuronal intranuclear inclusions in SCA2: a genetic, morphological and immunohistochemical study of two cases. Brain. 2002;125:656-663. (Pubitemid 34194418)