Various central nervous system involvements in dystrophinopathy: Clinical and genetic considerations

No To Hattatsu

Volumn 40, Issue 1, 2008, Pages 10-14

  Nakamura, Ari ^a,b   Miyazaki, Yoshiki ^a,b   Kumagai, Toshiyuki ^a   Suzuki, Yoshiko ^a   Miura, Kiyokuni ^a  

^a Department of Pediatric Neurology   (Japan)

^b AICHI MEDICAL UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN;

ARTICLE; AUTISM; BECKER MUSCULAR DYSTROPHY; CENTRAL NERVOUS SYSTEM DISEASE; DUCHENNE MUSCULAR DYSTROPHY; EPILEPSY; EXON; FEBRILE CONVULSION; GENE DUPLICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; HUMAN; INTELLIGENCE QUOTIENT; MEDICAL RECORD REVIEW; MENTAL DEFICIENCY; MORBIDITY; NEUROLOGIC DISEASE; NEUROLOGICAL COMPLICATION; SIBLING;

AUTISTIC DISORDER; BRAIN; DYSTROPHIN; EPILEPSY; HUMANS; MENTAL RETARDATION; MUSCULAR DYSTROPHIES; MUTATION;

EID: 38549093459     PISSN: 00290831     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

1. Japanese source
2. Tsuboi T. Epidemiology of febrile and afebrile convulsions in children in Japan. Neurology 1984 ; 34 : 175-81.
3. Mehler MF. Brain dystrophin, neurogenetics and mental retardation. Brain Res Rev 2000 ; 32 : 277-307.
4. Giliberto F, Ferreiro V, Dalamon V, Szijan I. Dystrophin deletions and cognitive impairment in Duchenne/Becker muscular dystrophy. Neurol Res 2004 ; 26 : 83-7.
5. Japanese source
6. Oka E, Ohtsuka Y, Yoshinaga H, Murakami N, Kobayashi K, Ogino T. Prevalence of childhood epilepsy and distribution of epileptic syndromes : a population-based survey in Okayama, Japan. Epilepsia 2006 ; 3 : 1-5.
7. Chen DH, Takeshima Y, Ishikawa Y, Ishikawa Y, Minami R, Matsuo M. A novel delation of the dystrophin S-promoter region cosegregating with mental retardation. Neurology 1999 ; 52 : 638-40.
8. Anderson JL, Head SI, Rae C, Morley JW. Brain function in Duchenne muscular dystrophy. Brain 2002 ; 125 : 4-13.
9. Zwaigenbaum L, Tarnopolsky M. Two children with muscular dystrophies ascertained due to referral for diagnosis of autism. J Autism Dev Disord 2003 ; 33 : 193-9.
10. Japanese source
11. Wibawa T, Takeshima Y, Mitsuyoshi I, et al. Complete skipping of exon 66 due to novel mutations of the dystrophin gene was identified in two Japanese families of Duchenne muscular dystrophy with severe mental retardation. Brain Dev 2000 ; 22 : 107-12.
12. Lidov HG, Selig S, Kunkel LM. Dp140 : a novel 140 kDa CNS transcript from the dystrophin locus. Hum Mol Genet 1995 ; 4 : 329-35.
13. Bardoni A, Felisari G, Sironi M, et al. Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies. Neuromuscul Disord 2000 ; 10 : 194-9.
14. Felisari G, Martinelli Boneschi F, Bardoni A, et al. Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy. Neurology 2000 ; 55 : 559-64.
15. Bushby KM. Genetic and clinical correlations of Xp21 muscular dystrophy. J Inherit Metab Dis 1992 ; 15 : 551-64.
16. Goodwin F, Muntoni F, Dubowitz V. Epilepsy in Duchenne and Becker muscular dystrophies. Eur J Paediatr Neurol 1997 ; 4 : 115-9.
17. Japanese source
18. Japanese source
19. Wallace RH, Marini C, Petrou S, et al. Mutant GABA (A) receptor γ 2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet 2001 ; 28 : 49-52.
20. Kang JQ, Shen W, Macdonald RL. Why dose fever trigger febrile seizures? GABAA receptor γ 2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies. J Neurosci 2006 ; 26 : 2590-7.