Epilepsy and mental retardation in a subset of early onset 4q35- facioscapulohumeral muscular dystrophy

Neurology

Volumn 50, Issue 6, 1998, Pages 1791-1794

  Funakoshi, Masanori ^a,b   Goto, Kanako ^a   Arahata, Kiichi ^a  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CHROMOSOME 4Q; CLINICAL ARTICLE; CLINICAL FEATURE; EPILEPSY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; GENE DELETION; GENETIC COUNSELING; HEARING LOSS; HUMAN; MENTAL DEFICIENCY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; TANDEM REPEAT;

EID: 0031777331     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.50.6.1791     Document Type: Article

References (30)

1. Padberg GW. Facioscapulohumeral disease. Thesis. Leiden, The Netherlands: University of Leiden, 1982.
2. Wijmenga C, Frants RR, Brouwer OF, Moerer P, Weber JL, Padberg GW. Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet 1990;336:651-653.
3. Wijmenga C, Hewitt JE, Sandkuijl LA, et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 1992;2:26-30.
4. Wijmenga C, Frants RR, Hewitt JE, et al. Molecular genetics of facioscapulohumeral muscular dystrophy. Neuromuscul Disord 1993;3:487-491.
5. Goto K, Lee JH, Matsuda C, et al. DNA rearrangements in Japanese facioscapulohumeral muscular dystrophy patients: clinical correlations. Neuromuscul Disord 1995;5:201-208.
6. Weiffenbach B, Dubois J, Storvick D, et al. Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromosome 4q35 recombination events. Nat Genet 1993;4:165-169.
7. van Deutekom JCT, Wijmenga C, van Tienhoven EAE, et al. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 1993;2:2037-2042.
8. Winokur ST, Bengtsson U, Feddersen J, et al. The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease. Chromosome Res 1994;2:225-234.
9. Hewitt JE, Lyle R, Clark LN, et al. Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Hum Mol Genet 1994;3:1287-1295.
10. Lee JH, Goto K, Sahashi K, Nonaka I, Matsuda C, Arahata K. Cloning and mapping of a very short (10-kb) EcoRI fragment associated with facioscapulohumeral muscular dystrophy (FSHD). Muscle Nerve 1995;18(suppl 2):S27-S31.
11. Lee JH, Goto K, Matsuda C, Arahata K. Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35. Muscle Nerve 1995;18(suppl 2):S6-S13.
12. Winokur ST, Bengtsson U, Vargas JC, Wasmuth JJ, Altherr MR. The evolutionary distribution and structural organization of the homeobox-containing repeat D4Z4 indicates a functional role for the ancestral copy in the FSHD region. Hum Mol Genet 1996;5:1567-1575.
13. Deidda G, Cacurri S, Grisanti P, Vigneti E, Piazzo N, Felicetti L. Physical mapping evidence for a duplicated region on chromosome 10qter showing high homology with the facioscapulohumeral muscular dystrophy locus on chromosome 4qter. Eur J Hum Genet 1995;3:155-167.
14. Deidda G, Cacurri S, Piazzo N, Felicetti L. Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD). J Med Genet 1996;33:361-365.
15. van Deutekom JCT, Bakker E, Lemmers RJLF, et al. Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1. Hum Mol Genet 1996;5:1997-2003.
16. Upadhyaya M, Maynard J, Rogers MT, et al. Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD. J Med Genet 1997;34:476-479.
17. Zatz M, Marie SK, Passos-Bueno MR, et al. High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families. Am J Hum Genet 1995;56:99-105.
18. Lunt PW, Jardine PE, Koch MC, et al. Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD). Hum Mol Genet 1995;4:951-958.
19. Tawil R, Forrester J, Griggs RC, et al. Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. Ann Neurol 1996;39: 744-748.
20. Padberg GW, Frants RR, Brouwer OF, Wijmenga C, Bakker E, Sandkuijl LA. Facioscapulohumeral muscular dystrophy in the Dutch population. Muscle Nerve 1995;18(suppl 2):S81-S84.
21. Karagan NJ, Sorensen JP. Intellectual functioning in non-Duchenne muscular dystrophy. Neurology 1981;31:448-452.
22. Lunt PW, Harper PS. Genetic counselling in facioscapulohumeral muscular dystrophy. J Med Genet 1991;28:655-664.
23. Padberg GW, Brouwer OF, de Keizer RJW, et al. On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy. Muscle Nerve 1995; 18(suppl 2):S73-S80.
24. Akiyama C, Suzuki H, Nonaka I. A case of facioscapulohumeral muscular dystrophy with infantile spasms, sensorineural deafness and retinal vessel abnormality. No To Hattatsu 1991;23:395-399.
25. Padberg GW, Lunt PQ, Koch M, Fardeau M. Facioscapulohumeral Muscular Dystrophy. In: Emery AEH, ed. Diagnostic criteria for neuromuscular disorders. The Netherlands: European Neuromuscular Center, 1994:19-24.
26. Brouwer OF, Padberg GW, Wijmenga C, Frants RR. Facioscapulohumeral muscular dystrophy in early childhood. Arch Neurol 1994;51:387-394.
27. Matsuzaka T, Sakuragawa N, Terasawa K, Kuwabara H. Facioscapulohumeral dystrophy associated with mental retardation, hearing loss, and tortuosity of retinal arterioles. J Child Neurol 1986;1:218-223.
28. Brouwer OF, Padberg GW, Bakker E, Wijmenga C, Frants RR. Early onset facioscapulohumeral muscular dystrophy. Muscle Nerve 1995;18(suppl 2):S67-S72.
29. Karjalainen S, Kääriäinen R, Vohlonen I. Ear disease and hearing sensitivity in mentally retarded children. Int J Pediatr Otorhinolaryngol 1983;5:235-241.
30. van Deutekom JCT, Lemmers RJLF, Grewal PK, et al. Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35. Hum Mol Genet 1996;5:581-590.