Benign hereditary chorea 2: Pathological findings in an autopsy case

Neuropathology

Volumn 32, Issue 5, 2012, Pages 557-565

  Yoshida, Yasuji ^a   Nunomura, Jinichi ^c   Shimohata, Takayoshi ^d   Nanjo, Hiroshi ^b   Miyata, Hajime ^a  

^a Research Institute for Brain and Blood Vessels Akita   (Turkey)

^b AKITA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c Hirosaki Ono Hospital   (Japan)

^d NIIGATA UNIVERSITY   (Japan)

Author keywords

Benign hereditary chorea (BHC) 2; Cerebral white matter; Neuronal cytoplasmic inclusion; Striatum; Tufted astrocyte

Indexed keywords

POLYGLUTAMINE; PROTEIN P62; UBIQUITIN;

ADULT; ANEMIA; ARTICLE; ASTROCYTOSIS; AUTOPSY; AUTOSOMAL DOMINANT DISORDER; BENIGN HEREDITARY CHOREA 2; BRAIN DEGENERATION; BRAIN SIZE; CASE REPORT; CHOREA; DEPRESSION; ELECTRON MICROSCOPE; FEMALE; GAIT DISORDER; GLIOSIS; HUMAN; IMMUNOREACTIVITY; LABORATORY TEST; MUSCLE HYPOTONIA; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; OCULOMOTOR NUCLEUS; PATHOLOGY; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY; TAUOPATHY; WHITE MATTER;

ADULT; AGED; AGED, 80 AND OVER; ASTROCYTES; AUTOPSY; BIOLOGICAL MARKERS; BRAIN; CELL SIZE; CHOREA; FEMALE; GLIOSIS; HUMANS; IMMUNOHISTOCHEMISTRY; INCLUSION BODIES; MAGNETIC RESONANCE IMAGING; MICROSCOPY, ELECTRON; MIDDLE AGED; NEUROFIBRILLARY TANGLES; NEURONS; OCULOMOTOR NERVE;

EID: 84866633979     PISSN: 09196544     EISSN: 14401789     Source Type: Journal    
DOI: 10.1111/j.1440-1789.2011.01288.x     Document Type: Article

References (16)

1. Haerer AF, Currier RD, Jackson JF. Hereditary nonprogressive chorea of early onset. N Engl J Med 1967; 276: 1220-1224.
2. Breedveld GJ, van Dongen JWF, Danesino C etal. Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet 2002; 11: 971-979.
3. Shimohata T, Hara K, Sanpei K etal. Novel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3-q23, 3. Brain 2007; 130: 2302-2309.
4. Vonsattel JP, Myers RH, Stevens TJ, Ferrante RJ, Bird ED, Richardson EP Jr. Neuropathological classification of Huntington's disease. J Neuropathol Exp Neurol 1985; 44: 559-577.
5. Ince PG, Clark B, Holton J, Revesz T, Wharton SB. Diseases of movement and system degenerations. In: Love S, Louis DN, Ellison DW, eds. Greenfield's Neuropathology, 8th edn. Vol. 1, London: Hodder Arnold, 2008; 889-1030.
6. Dickson DW, Rademakers R, Hutton ML. Progressive supranuclear palsy: pathology and genetics. Brain Pathol 2007; 17: 74-82.
7. Tsuboi Y, Ahlskog JE, Apaydin H etal. Lewy bodies are not increased in progressive supranuclear palsy compared with normal controls. Neurol 2001; 57: 1675-1678.
8. Hishikawa N, Hashizume Y, Yoshida M etal. Tuft-shaped astrocytes in Lewy body disease. Acta Neuropathol 2005; 109: 373-380.
9. Santpere G, Ferrer I. Delineation of early changes in cases with progressive supranuclear palsy. Astrocytes in striatum are primary targets of tau phosphorylation and GFAP oxidation. Brain Pathol 2009; 19: 177-187.
10. Sakai K, Yamada M. Early-stage progressive supranuclear palsy with degenerative lesions confined to the subthalamic nucleus and substantia nigra. Neuropathol 2011; 31: 77-81.
11. Moor DJ, Dawson VL, Dawson IM. Role for the ubiquitin-proteasome system in Parkinson's disease and other neurodegenerative brain amyloidoses. Neuromolecular Med 2003; 4: 95-108.
12. Komatsu M, Kurokawa H, Waguri S etal. The selective autophagy substrate p62 activates the stress responsive transcription factor Nrf2 through inactivation of Keap1. Nat Cell Biol 2010; 12: 213-223.
13. Schrag A, Quinn NP, Bhatia KP etal. Benign hereditary chorea-entity or syndrome? Mov Disord 2000; 15: 280-288.
14. Kleiner-Fisman G, Rogaeva E, Halliday W etal. Benign hereditary chorea: clinical, genetic, and pathological findings. Ann Neurol 2003; 54: 244-247.
15. Kleiner-Fisman G, Calingasan NY, Putt M etal. Alterations of striatal neurons in benign hereditary chorea. Mov Disord 2005; 20: 1353-1357.
16. Kaphan E, Pellissier JF, Rey M, Robert D, Auphan M, Ali Chérif A. Esophageal achalasia, sleep disorders and chorea in a tauopathy without ophthalmoplegia, parkinsonian syndrome, nor dementia (progressive supranuclear palsy?): clinicopathological study. Rev Neurol (Paris) 2008; 164: 377-383.