The correlation between magnetic resonance imaging features of the brainstem and cerebellum and clinical features of spinocerebellar ataxia 3/Machado-Joseph disease

Neurology India

Volumn 57, Issue 5, 2009, Pages 578-583

  Liang, Xiaochun ^a   Jiang, Hong ^a,b   Chen, Changqing ^a   Zhou, Gaofeng ^a   Wang, Junling ^a   Zhang, Shen ^a   Lei, Liwang ^a   Wang, Xiaoyi ^a   Tang, Beisha ^a,b,c  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b CENTRAL SOUTH UNIVERSITY   (China)

^c National Lab of Medical Genetics of China   (China)

Author keywords

Clinical feature; Correlation; Magnetic resonance imaging; Spinocerebellar ataxia type 3 Machado Joseph disease

Indexed keywords

ADULT; ANTERIOR POSTERIOR AXIS; ARTICLE; BODY POSTURE; BRAIN FOURTH VENTRICLE; BRAIN STEM; CEREBELLUM; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE DURATION; FEMALE; GAIT; HUMAN; MACHADO JOSEPH DISEASE; MALE; MESENCEPHALON; MORPHOMETRICS; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PONS; RATING SCALE; TRINUCLEOTIDE REPEAT;

ADULT; BRAIN STEM; CEREBELLUM; FEMALE; HUMANS; MACHADO-JOSEPH DISEASE; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; REPRESSOR PROTEINS; SEVERITY OF ILLNESS INDEX; STATISTICS AS TOPIC; TRINUCLEOTIDE REPEAT EXPANSION; YOUNG ADULT;

EID: 72849141629     PISSN: 00283886     EISSN: 19984022     Source Type: Journal    
DOI: 10.4103/0028-3886.57803     Document Type: Article

References (22)

1. Manto MU. The wide spectrum of spinocerebellar ataxias (SCAs). Cerebellum 2005;4:2-6.
2. Schmitz-Hübsch T, Klockgether T. An update on inherited ataxias. Curr Neurol Neurosci Rep 2008;8:310-319
3. Haberhausen G, Damian MS, Leweke F, Miiller U. Spinocerebellar ataxia, type 3 (SCA3) is genetically identical to Machado-Joseph disease (MJD). J Neurol Sci 1995;132:71-75
4. Riess O, Rüb U, Pastore A, Bauer P, Schöls L. SCA3: Neurological features, pathogenesis and animal models. Cerebellum 2008;7:125-137
5. Soon BW, Cheng CH, Liu RS, Shan D. Machado-joseph disease: Clinical, molecular, and metabolic characterization in chinese kindreds. Ann Neurol 2004;41:446-452
6. Tang BS, Liu CY, Shen L, Dai HP, Pan Q, Jing LJ, et al. Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with Hereditary spinocerebellar ataxia from Chinese kinderds. Arch Neurol 2000;57:540-544
7. Bang OY, Lee PH, Kim SY, Kim HJ, Huh K. Pontine atrophy precedes cerebellar degeneration in spinocerebellar ataxia 7: MRI-based volumetric analysis. J Neurol Neurosurg Psychiatry 2004;75:1452-1456
8. Bang OY, Huh K, Le PH, Kim HJ. Clinical and neuroradiological features of patients with spinocerebellar ataxias from korean kindreds. Arch Neurol 2003;60:1566-1574
9. Klockgether T, Skalej M, Wedekind D, Luft AR, Welte D, Schulz JB, et al. Autosomal dominant cerebellar ataxia type I. MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types1,2 and 3. Brain 1998;121:1687-1693
10. Murata Y, Kawakami H, Yamaguchi S, Nishimura M, Kohriyama T, Ishizaki F, et al. Characteristic Magnetic Resonance Imaging Findings in Spinocerebellar Ataxia 6. Arch Neurol 1998;55:1348-1352 (Pubitemid 28465869)
11. Murata Y, Yamaguchi S, Kawakami H, Imon Y, Maruyama H, Sakai T, et al. Characteristic magnetic resonance imaging findings in Machado- Joseph disease. Arch Neurol 1998;55:33-37 (Pubitemid 28139104)
12. Onodera O, Idezuka J, Igarashi S, Takivama Y, Endo K, Takano H, et al. Progressive atrophy of cerebellum and brainstem as a function of age and the size of the expanded CAG repeats in the MJD1 gene in Machado-Joseph disease. Ann Neurol 1998;43:288-296
13. Abe Y, Tanaka F, Matsumoto M, Doyu M, Hirayama M, Kachi T, et al. CAG repeat number correlates with the rate of brainstem and cerebellar atrophy in Machado-Joseph disease. Neurology 1998;51:882-884
14. Harding AE. Clinical features and classification of inherited ataxias. Adv Neurol 1993;61:1-14.
15. Trouillas P, Takayanagi T, Hallett M, Currier RD, Subramony SH, Wessel K, et al. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. J Neurol Sci 1997;145:205-211
16. Schmitz-HÜbsch T, Tezenas Du Montcel S, Baliko L, Berciano J, Boesch S, Depondt C, et al. Scale for the assessment and rating of ataxia: Development of a new clinical scale. Neurology 2006;66:1717-1720
17. Aya MT. Keiko K, Toshiyuki M, Shigeo M, Ikuko S, Tatsumi K, et al. Magnetic Resonance Imaging Findings of Machado-Joseph Disease: Histopathologic Correlation. J Comput Assist Tomogr 2003;27:241-248
18. Sudarsky L, Coutinho P. Machado-Joseph disease. Clin Neurosci 1995;3:17-22.
19. Christian B, Sylvia MB, Michael S Gregor KW, Werner P. Atrophy pattern in SCA2 determined by voxel-based morphometry. Neuroreport 2003;14:1799-1802
20. Lasek k, Lencer R, Gaser C, Hagenah J, Walter U, Wolters A, et al. Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17). Brain 2006;129:2341-2352
21. Guerrini L, Lolli F, Ginestroni A, Belli G, Della Nave R, Tessa C et al. Brainstem neurodegeneration correlates with clinical dysfunction in SCA1 but not in SCA2. A quantitative volumetric, diffusion and proton spectroscopy MR study. Brain 2004;127:1785-1795
22. Schmitz-Hübsch T, Coudert M, Bauer P, Giunti P, Globas C, Baliko L, et al. Spinocerebellar ataxia type 1,2,3, and 6: Disease severity and nonataxia symptoms. Neurology 2008;71:1-8.