Magnetic resonance imaging findings of Machado-Joseph disease: Histopathologic correlation

Journal of Computer Assisted Tomography

Volumn 27, Issue 2, 2003, Pages 241-248

  Tokumaru, Aya M ^a   Kamakura, Keiko ^a   Maki, Toshiyuki ^b   Murayama, Shigeo ^c   Sakata, Ikuko ^a   Kaji, Tatsumi ^a   Kohyama, Shinnya ^a   Kusano, Shoichi ^a   Hasegawa, Seiji ^b  

^a NATIONAL DEFENSE MEDICAL COLLEGE   (Japan)

^b KAMEDA MEDICAL CENTER   (Japan)

^c TOKYO METROPOLITAN INSTITUTE OF GERONTOLOGY   (Japan)

Author keywords

Histopathologic correlation; Machado Joseph disease; Magnetic resonance imaging; Spinocerebellar degeneration

Indexed keywords

BRAIN; JOSEPHSON JUNCTION DEVICES; MAGNETISM; PATHOLOGY; RESONANCE;

BRAINSTEM; HISTOPATHOLOGIC CORRELATION; LATE STAGE; MACHADO-JOSEPH DISEASE; SPINOCEREBELLAR DEGENERATION; SUBTHALAMIC NUCLEUS;

MAGNETIC RESONANCE IMAGING;

ADULT; ARTICLE; AUTOPSY; BRAIN STEM; CEREBELLUM; CEREBELLUM ATROPHY; CEREBELLUM VERMIS; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE COURSE; FAMILIAL DISEASE; FEMALE; FRONTAL LOBE; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMAGE ANALYSIS; MACHADO JOSEPH DISEASE; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PONS ANGLE; PRIORITY JOURNAL; SUBTHALAMIC NUCLEUS; TEGMENTUM; ATROPHY; BRAIN; COMPARATIVE STUDY; HOSPITALIZATION; MIDDLE AGED; PATHOLOGY; RADIOGRAPHY; STATISTICS; TIME;

ADULT; ATROPHY; AUTOPSY; BRAIN; DISEASE PROGRESSION; FEMALE; HUMANS; MACHADO-JOSEPH DISEASE; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; SEVERITY OF ILLNESS INDEX; STATISTICS; TIME FACTORS;

EID: 0038051893     PISSN: 03638715     EISSN: None     Source Type: Journal    
DOI: 10.1097/00004728-200303000-00023     Document Type: Article

References (23)

1. Nakano KK, Dawson DM, Spence A. Machado disease: a hereditary ataxia in Portuguese immigrants to Massachusetts. Neurology 1972;22:49-55.
2. Coutinho P, Andrade C. Autosomal dominant system degeneration in Portuguese families of the Azores Islands. Neurology 1978;28:703-9.
3. Sasaki T, Ohta M, Ishino H. Joseph disease in a non-Portuguese family. Neurology 1983;33:74-80.
4. Lima L, Coutinho P. Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-Azorean Portuguese family. Neurology 1980;30:319-22.
5. Sachdev HS, Forno LS, Kane CA. Joseph disease: a multisystem degenerative disorder of the nervous system. Neurology 1982;32:192-5.
6. Yuasa T, Miyatake T, Ohama E, et al. A comparative study of Machado-Joseph disease in Portuguese and Japanese [in Japanese, English abstract]. Shinkei Kenkyu No Shinpo [Advances in Neurologic Sciences] 1990;34:102-12.
7. Inoue Y, Yuasa T. Dentatorubral-pallidoluisian atrophy and Machado-Joseph disease [in Japanese, English abstract]. Shinkei Kenkyu No Shinpo (Advances in Neurologic Sciences) 1995;39:519-28.
8. Takiyama Y, Nishizawa M, Tanaka H, et al. The gene for Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q. Nat Genet 1993;4:300-4.
9. Maruyama H, Nakamura S, Matsuyama Z, et al. Molecular features of the CAG repeats and clinical manifestations of Machado-Joseph disease. Hum Mol Genet 1995;4:807-12.
10. Murata Y, Yamaguchi S, Kawakami H, et al. Characteristic magnetic resonance imaging findings in Machado-Joseph disease. Arch Neurol 1998;55:33-7.
11. Onodera O, Idezuka J, Igarashi S, 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.
12. Etchebehere ECSC, Cendes F, Lopes-Cendes I, et al. Brain single-photon emission computed tomography and magnetic resonance imaging in Machado-Joseph disease. Arch Neurol 2001;58:1257-63.
13. Twist EC, Casaubon LK, Ruttledge MH, et al. Machado-Joseph disease (MJD) maps to the same region of chromosome 14 as the spinocerebellar ataxia 3 locus. J Med Genet 1995;32:25-31.
14. Haberhausen G, Damian MS, Leweke F, et al. Spinocerebellar ataxia, type 3 (SCA3) is genetically identical to Machado-Joseph disease (MJD). J Neurol Sci 1995;132:71-5.
15. Abe Y, Tanaka F, Matsumoto M, et al. CAG repeat number correlates with the rate of brainstem and cerebellar atrophy in Machado-Joseph disease. Neurology 1998;51:882-4.
16. Orr HT, Chung M, Banfi S. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993;4:221-6.
17. Koide R, Ikeuchi T, Onodera O. Unstable expansion of CAG repeat in hereditary dentatorubralpallidoluysian atrophy (DRPLA). Nat Genet 1994;6:9-13.
18. Nagafuchi S, Sanagisawa H, Sato K. Dentatorubral and pallidoluysian atrophy: expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet 1994;6:14-8.
19. Gispert S, Twells R, Orozco G. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromesome 12q23-24.1. Nat Genet 1993;4:295-9.
20. Yagishita S, Inoue M. Clinicopathology of spinocerebellar degeneration: its correlation to the unstable CAG repeat of the affected gene. Pathology International 1997;47:1-15.
21. Savoiardo M, Strada L, Girotti F, et al. Olivopontocerebellar atrophy: MR diagnosis and relationship to multisystem atrophy. Radiology 1990;174:693-6.
22. Tomiyasu H, Yoshii F, Ohnuki Y, et al. The brainstem and thalamic lesions in dentatorubral pallidoluysian atrophy: an MRI study. Neurology 1998;50:1887-90.
23. 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;49:1605-12.