Multifocal glial nodules in a case of Duchenne muscular dystrophy with severe mental retardation

Neuropathology

Volumn 19, Issue 3, 1999, Pages 322-327

  Itoh, Kyoko ^a   Jinnai, Kenji ^b   Tada, Kazuo ^b   Hara, Kiyokazu ^b   Itoh, Hiroshi ^a   Takahashi, Keiichi ^b  

^a KOBE UNIVERSITY   (Japan)

^b Japan   (Japan)

Author keywords

Astrocyte; Development; Duchenne muscular dystrophy; Glial nodule; Mental retardation

Indexed keywords

CRYSTALLIN; GLIAL FIBRILLARY ACIDIC PROTEIN; NEUROFILAMENT PROTEIN; SYNAPTOPHYSIN; TAU PROTEIN; UBIQUITIN;

ADULT; ARTICLE; ASTROCYTE; BRAIN CORTEX; BRAIN DEVELOPMENT; CASE REPORT; CLINICAL FEATURE; DUCHENNE MUSCULAR DYSTROPHY; GLIA CELL; HAMARTOMA; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MENTAL DEFICIENCY; MULTINUCLEAR CELL; PREFRONTAL CORTEX; PRIORITY JOURNAL;

EID: 0032848209     PISSN: 09196544     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1440-1789.1999.00240.x     Document Type: Article

References (20)

1. Emery AEH. Duchenne muscular dystrophy, revised edn. Oxford: Oxford University Press, 1988.
2. Rosman NP. The cerebral defect and myopathy in Duchenne muscular dystrophy: comparative clinicopathological study. Neurology 1970; 20: 324-335.
3. Moser H. Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention. Hum Genet 1984; 66: 17-40.
4. Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987; 51: 919-928.
5. Lidov HJW, Byers TJ, Watokins SC, Kunkel LM. Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons. Nature 1990; 348: 725-728.
6. Jung D, Pons F, Leger JJ, Aunis D, Rendon A. Dystrophin in central nervous system: a developmental, regional distribution and subcellular localization study. Neurosci Lett 1991; 124: 87-91.
7. Huard J, Cote P-Y, Parent A, Bouchard J-P, Tremblay JP. Dystrophin-like immunoreactivity in monkey and human brain areas involved in learning and motor function. Neurosci Lett 1992; 141: 181-186.
8. Lidov HJW, Byers TJ, Kunkel LM. The distribution of dystrophin in the murine central nervous system: an immunocytochemical study. Neuroscience 1993; 54: 167-187.
9. Uchino M, Teramoto H, Naoe H, Yoshioka K, Miike T, Ando M. Localization and characterization of dystrophin in the central nervous system of controls and patients with Duchenne muscular dystrophy. J Neurol Neurosurg Psychiatry 1994; 57: 426-429.
10. Miyatake M, Miike T, Zhao JE, Yoshioka K, Uchino M, Usuki G. Dystrophin: Localization and presumed function. Muscle Nerve 1991; 14: 113-119.
11. Toreli S, Sogos V, Ennas MG et al. Dystrophin immunoreactivity in normal and Duchenne human fetal neurons in culture. J Neurosci Res 1992; 32: 116-125.
12. Kim T-W, Wu K, Xu J-L, Black IB. Detection of dystrophin in the postsynaptic density of rat brain and deficiency in a mouse model of Duchenne muscular dystrophy. Proc Natl Acad Sci USA 1992; 89: 11642-11644.
13. Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 1988; 16: 11141-11156.
14. Beggs AH, Koenig M, Boyce FM, Kunkel LM. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 1990; 86: 45-48.
15. Jagadha V, Becker LE. Brain morphology in Duchenne muscular dystrophy; a golgi study. Pediatr Neurol 1988; 4: 87-92.
16. Tracey I, Scott RB, Thompson CH et al. Brain abnormalities in Duchenne muscular dystrophy: phosphorus-31 magnetic resonance spectroscopy and neuropsychological study. Lancet 1995; 345: 1260-1264.
17. Tracey I, Dunn F, Radda GK. Brain metabolism is abnormal in the mdx model of Duchenne muscular dystrophy. Brain 1996; 119: 1039-1044.
18. Sbriccoli A, Santarelli M, Carretta D, Pinto F, Granato A, Minciacchi D. Architectural changes of the corticospinal system in the dystrophin defective mdx mouse. Neurosci Lett 1995; 200: 53-56.
19. Russel DS, Rubinstein LJ. Genetic syndromes associated with tumors and/or hamartomas. In: Bigner DD, McLendon RE, Bruner JM (eds). Russel & Rubinstein's Pathology of tumors of the nervous system, volume 2. London: Arnold, 1998; 371-417.
20. Wiestler OD, von Siebenthal K, Schmitt HP, Feiden W, Kleihues P. Distribution and immunoreactivity of cerebral micro-hamartomas in bilateral acoustic neurofibromatosis (neurofibromatosis 2). Acta Neuropathol Berl 1989; 79: 137-43.