A familial syndrome of congenital cataract, mental impairment, and dentate gyrus atrophy

Annals of Neurology

Volumn 41, Issue 4, 1997, Pages 512-520

  Hudson, Arthur J ^a,b   Munoz, David G ^a  

^a UNIVERSITY OF WESTERN ONTARIO   (Canada)

^b NONE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CRYSTALLIN;

ADULT; AFFECTIVE NEUROSIS; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRAIN ATROPHY; CHOREA; CLINICAL ARTICLE; CONGENITAL CATARACT; DENTATE GYRUS; DYSPHAGIA; FAMILIAL DISEASE; FEMALE; HUMAN; HUMAN TISSUE; INTELLECTUAL IMPAIRMENT; MALE; MENTAL DEFICIENCY; OLIGODENDROGLIA; PRIORITY JOURNAL; PSYCHOSIS;

ADULT; ATROPHY; BRAIN; CATARACT; CYTOPLASM; DENTATE GYRUS; FATAL OUTCOME; FEMALE; HIPPOCAMPUS; HUMANS; MALE; MENTAL DISORDERS; MICROSCOPY, ELECTRON; MIDDLE AGED; NEOSTRIATUM; ORGAN SIZE; PEDIGREE; SYNDROME;

EID: 0030932149     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410410415     Document Type: Article

References (22)

1. van Bogaert L. Les aspects neurologiques des cholestérinoses généralisées. Prog Med (Paris) 1938;22:785-790, 795
2. Philippart M, van Bogaert L, Cholestanolosis (cerebrotendinous xanthomatosis): a follow-up study on the original family. Arch Neurol 1969;21:603-610
3. Strömgren E. Heredopathia ophthalmo-oto-encephalica. In: Vinken PJ, Bruyn GW, eds. Handbook of clinical neurology, vol 42, part I. Amsterdam: Elsevier/North-Holland Publishing, 1981:150-152
4. Hudson AJ, Huff MW, Wright CG, et al. The role of insulin resistance in the pathogenesis of myotonic muscular dystrophy. Brain 1987;10:469-488
5. Nelson LB, Ullman S. Congenital and developmental cataracts. In: Tasman W, Jaeger EA, eds. Duane's clinical ophthalmology, vol 1. Philadelphia; JB Lippincott, 1991
6. Martsolf JT, Hunter AGW, Haworth JC. Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers. Am J Med Genet 1978;l:291-299 .
7. Wheeler PG, Dobyns WB, Plager DA, Ellis FD. Familial remitting chorea, nystagmus, and cataracts. Am J Med Genet 1993;47:1215-1217
8. Suchy SF, Olivos-Glander IM, Nussbaum R. Lowe syndrome, a deficiency of phosphatidyl-inositol 4,5-biphosphate-5-phosphatase in the golgi apparatus. Hum Mol Genet 1995;4:2245-2250
9. Kertesz A, Hudson L, Mackenzie IRA, Munoz DG. The pathology and nosology of primary progressive aphasia. Neurology 1994;44:2065-2072
10. Mackenzie IRA, Hao C, Munoz DG. Role of microglia in senile plaque formation. Neurobiol Aging 1995;16:797-804
11. Munoz DG. The distribution of chromogranin A-like imunoreactivity in the human hippocampus coincides with the pattern of resistance to epilepsy-induced neuronal damage. Ann Neurol 1990;27:266-275
12. Iwaki T, Wisniewski T, Iwaki A, et al. Accumulation of αB/ crystallin in central nervous system glia and neurons in pathologic conditions. Am J Pathol 1992;140:345-356
13. Dickson DW, Wertkin A, Kress Y, et al. Ubiquitin immunoreactive structures in normal human brains. Distribution and developmental aspects. Lab Invest 1990;63:87-99
14. Groenen PJTA, Merck KB, De Jong WW, Bloemendal H. Structure and modifications of the junior chape rone a-chrystallin from lens transparency to molecular pathology. Eur J Biochem 1994;225:1-19
15. Dubin RA, Ally AH, Chung S, Piatigorsky J. Human αBcrystallin gene and preferential promoter function in lens. Genomics 1990;7:594-601
16. Glavač D, Dean M. Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations. Hum Mutat 1993;2:404-414
17. Scoville WB, Milner B. Loss of recent memory after bilateral hippocampal lesions. J Neurol Neurosurg Psychiatry 1957;20: 11-21
18. Tomokane N, Iwaki T, Tateishi J, et al. Rosenthal fibres share epitopes with αB-Crystallin, glial fibrillary acidic protein, and ubiquitin, but not with vimentin. Immunoelectron microscopy with colloidal gold. Am J Pathol 1991;138:875-885
19. Renkawek K, de Jong WW, Merck KB, et al. αB-Crystallin is present in reactive glia in Creutzfeldt-Jakob disease. Acta Neuropathol (Berl) 1992;83:324-327
20. Lowe J, Errington DR, Lennox G, et al. Balloon neurons in several neurodegenerative diseases and stroke contain αBcrystallin. Neuropathol Appl Neurobiol 1992;18:34l-350
21. Cooper PN, Jackson M, Lennox G, et al. Tau, ubiquitin and αB-crystallin immunohistochemistry define the principal causes of degenerative frontotemporal dementia. Arch Neurol 1995;52:1011-1015
22. Staugaitis SM, Marder K, Corbin E, et al. Clinical "corticobasal degeneration" with novel argyrophilic glial inclusions. J Neuropathol Exp Neurol 1996;55:635 (Abstract)