Severe cerebral white matter involvement in a case of dentatorubropallidoluysian atrophy studied at autopsy

Archives of Neurology

Volumn 61, Issue 6, 2004, Pages 946-949

  Muñoz, Esteban ^a,c   Campdelacreu, Jaume ^a   Ferrer, Isidre ^c,d   Rey, María J ^c   Cardozo, Adriana ^c   Gómez, Beatriz ^b   Tolosa, Eduardo ^a,c  

^a Department of Neurosurgery   (Spain)

^b Neuroradiology Section   (Spain)

^c HOSPITAL CLÍNIC   (Spain)

^d HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

MYELIN;

ADULT; ARTICLE; ASTROCYTOSIS; ATAXIA; AUTOPSY; BRAIN ATHEROSCLEROSIS; BRAIN STEM; BRUXISM; CASE REPORT; CEREBELLUM ATROPHY; COGNITIVE DEFECT; DEMENTIA; DENTATORUBROPALLIDOLUYSIAN ATROPHY; DISEASE ASSOCIATION; DISEASE SEVERITY; DYSARTHRIA; FEMALE; HEAD MOVEMENT; HUMAN; LEUKOENCEPHALOPATHY; NERVE FIBER; NUCLEAR MAGNETIC RESONANCE IMAGING; PALLOR; PATHOPHYSIOLOGY; PRIORITY JOURNAL; QUADRIPLEGIA; WHITE MATTER;

FEMALE; HUMANS; MIDDLE AGED; MYOCLONIC EPILEPSIES, PROGRESSIVE; TELENCEPHALON;

EID: 2942566388     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.61.6.946     Document Type: Article

References (15)

1. Takahashi H, Ohama E, Naito H, et al. Hereditary dentatorubral-pallidoluysian atrophy: clinical and pathological variants in a family. Neurology. 1988;38:1065-1070.
2. Iizuka R, Hirayama K, Maehara K. Dentato-rubro-pallidoluysian atrophy: a clinico-pathological study. J Neurol Neurosurg Psychiatry. 1984;47:1288-1298.
3. 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.
4. Nagafuchi S, Yanagisawa H, Sato K, et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet. 1994;6:14-18.
5. Yamada M, Wood JD, Shimohata T, et al. Widespread occurrence of intranuclear atrophin-1 accumulation in the central nervous system neurons of patients with dentatorubral-pallidoluysian atrophy. Ann Neurol. 2001;49:14-23.
6. Ikeuchi T, Koide R, Tanaka H, et al. Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expressions of trinucleotide (CAG) repeat. Ann Neurol. 1995;37:769-775.
7. Warner TT, Lennox GG, Janota I, Harding AE. Autosomal-dominant dentatorubropallidoluysian atrophy in the United Kingdom. Mov Disord. 1994;9:289-296.
8. Burke JR, Wingfield MS, Lewis KE, et al. The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. Nat Genet. 1994; 7:521-524.
9. Muñoz E, Milà M, Sánchez A, et al. Dentatorubropallidoluysian atrophy in a Spanish family: a clinical, radiological, pathological, and genetic study. J Neurol Neurosurg Psychiatry. 1996;67:811-814.
10. 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.
11. Yoshii F, Tomisayu H, Shinohara Y. Fluid attenuation inversion recovery (FLAIR) images of dentatorubropallidoluysian atrophy: case report. J Neurol Neurosurg Psychiatry. 1998;65:396-399.
12. 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: 146-153.
13. Becher MW, Rubinsztein DC, Lego 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.
14. Farmer TW, Wingfield MS, Lynch SA, et al. Ataxia, chorea, seizures and dementia: pathologic features of a newly defined familial disorder. Arch Neurol. 1989; 46:774-779.
15. Ito D, Yamada M, Kawai M, Usui T, Hamada J, Fukuuchi Y. Corneal endothelial degeneration in dentatorubral-pallidoluysian atrophy. Arch Neurol. 2002;59:289-291.