Radiologic and neuropathologic findings in patients in a family with dentatorubral-pallidoluysian atrophy

American Journal of Neuroradiology

Volumn 32, Issue 1, 2011, Pages 109-114

  Sunami, Y ^a   Koide, R ^a   Arai, N ^b   Yamada, M ^c   Mizutani, T ^a   Oyanagi, K ^b,d  

^a TOKYO METROPOLITAN NEUROLOGICAL HOSPITAL   (Japan)

^b TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^c National Saigata Medical Center   (Japan)

^d SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; ASPIRATION PNEUMONIA; BRAIN ATROPHY; BRAIN STEM; CASE REPORT; CAUSE OF DEATH; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CHOREA; DENTATE NUCLEUS; DENTATORUBROPALLIDOLUYSIAN ATROPHY; DISEASE COURSE; DYSKINESIA; FAMILIAL DISEASE; FAMILY; GAIT DISORDER; GLOBUS PALLIDUS; GRAND MAL SEIZURE; HUMAN; HUMAN TISSUE; INTELLIGENCE QUOTIENT; MALE; MYELINATED NERVE; MYOCLONUS; NEUROLOGIC EXAMINATION; NEUROPATHOLOGY; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SCANNER; OROLINGUAL DYSKINESIA; PERSONALITY DISORDER; PONS; RED NUCLEUS; SUBSTANTIA NIGRA; SUBTHALAMUS; WHITE MATTER;

ADULT; BRAIN; DIAGNOSIS; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MYOCLONIC EPILEPSIES, PROGRESSIVE;

EID: 78651513123     PISSN: 01956108     EISSN: 1936959X     Source Type: Journal    
DOI: 10.3174/ajnr.A2252     Document Type: Article

References (14)

1. Naito H, Oyanagi S. Familial myoclonus epilepsy and choreoathetosis: Hereditary dentatorubral-pallidoluysian atrophy. Neurology 1982;32:798-807
2. Koide R, Ikeuchi T, Onodera O, et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 1994;6: 9-13
3. Ikeuchi T, Koide R, Tanaka H, et al. Dentatorubral-pallidoluysian atrophy: Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ann Neurol 1995;37:769-75
4. 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
5. Miyazaki M, Kato T, Hashimoto T, et al. MR of childhood-onset dentatorubral- pallidoluysian atrophy. AJNR Am J Neuroradiol 1995;16:1834-36
6. Uyama E, Kondo I, Uchino M, et al. Dentatorubral-pallidoluysian atrophy (DRPLA): Clinical, genetic, and neuroradiologic studies in a family. J Neurol Sci 1995;130:146-53
7. Kin T, Hirano M, Taoka T, et al. Global and region-specific analyses of apparent diffusion coefficient in dentatorubral-pallidoluysian atrophy. AJNR Am J Neuroradiol 2006;27:1463-66
8. Kin T, Hirano M, Taoka T, et al. Proton MR spectroscopy of adult-onset dentatorubral- pallidoluysian atrophy. Magn Reson Med Sci 2005;4:123-27
9. Takahashi H, Ohama E, Naito H, et al. Hereditary dentatorubral- pallidoluysian atrophy: Clinical and pathologic variants in a family. Neurology 1988;38:1065-70
10. Burke JR, Wingfield MS, Lewis KE, et al. The Haw River syndrome: Dentatorubral- pallidoluysian atrophy (DRPLA) in an African-American family. Nat Genet 1994;7:521-24
11. 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;12:519-30
12. Munoz E, Campdelacreu J, Ferrer I, et al. Severe cerebral white matter involvement in a case of dentatorubropallidoluysian atrophy studied at autopsy. Arch Neurol 2004;61:946-49
13. Sakai K, Yamada M, Sato T, et al. Neuronal atrophy and synaptic alteration in a mouse model of dentatorubral-pallidoluysian atrophy. Brain 2006;129: 2353-62
14. Kobayashi J, Nagao M, Kawata A, et al.Acase of late adult-onset dentatorubralpallidoluysian atrophy mimicking central pontine myelinolysis. J Neurol 2009;256:1369-71