Marinesco-Sjogren syndrome in a Bedouin family

Acta Neurologica Scandinavica

Volumn 96, Issue 6, 1997, Pages 387-391

  Farah, S ^a   Sabry, M A ^b   Khuraibet, A J ^a   Anim, J T ^c   Quasrawi, B ^d   Al Khatam, S ^d   Al Busairi, W ^d   Hussein, J M ^a   Khan, R A ^a   Al Awadi, S A ^b  

^a IBN SINA HOSPITAL   (Kuwait)

^b AL SABAH HOSPITAL   (Kuwait)

^c KUWAIT UNIVERSITY   (Kuwait)

^d Ministry of Social Affairs   (Kuwait)

Author keywords

Arabs; EMG; Marinesco Sjogren; Metatarsals; Myopathy; Neuropathy

Indexed keywords

ADULT; ARAB; ARTICLE; CASE REPORT; CLINICAL FEATURE; DEMYELINATION; ELECTROMYOGRAPHY; FAMILIAL DISEASE; HUMAN; HUMAN TISSUE; MALE; MARINESCO SJOGREN SYNDROME; MYOPATHY; NERVE BIOPSY; NERVE CONDUCTION; NERVE FIBER DEGENERATION; SIBLING; SURAL NERVE; ATROPHY; CONGENITAL MALFORMATION; CONSANGUINITY; ETHNIC GROUP; ETHNOLOGY; FAMILY HEALTH; MULTIPLE MALFORMATION SYNDROME; NERVE DEGENERATION; PATHOLOGY; PATHOPHYSIOLOGY; SKELETAL MUSCLE; SPINOCEREBELLAR DEGENERATION; TOE;

ABNORMALITIES, MULTIPLE; ADULT; ATROPHY; CONSANGUINITY; ELECTROMYOGRAPHY; ETHNIC GROUPS; FAMILY HEALTH; HUMANS; MALE; MUSCLE, SKELETAL; NERVE DEGENERATION; NEURAL CONDUCTION; SPINOCEREBELLAR DEGENERATIONS; TOES;

EID: 0031282953     PISSN: 00016314     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0404.1997.tb00303.x     Document Type: Article

References (25)

1. MCKUSICK VA (ed.). Mendelian Inheritance in Man. 11th edn, Baltimore: Johns Hopkins University Press, 1994.
2. MARINESCO G, DRAGANOESCO ST, VASILIN D. Nouvelle Maladie Familiale caracterisé par une cataracte congénitale et un arrêt du dévélopment somatoneurophysique. Encephalé 1931: 26: 97-109.
3. SJÖGREN T. Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia. Confinia Neurol 1950: 10: 293-308.
4. SUPERNEAU DW, WERTELECKI W, ZELLWEGER H. Marinesco-Sjögren syndrome described a quarter of a century before Marinesco (letter). Am J Med Genet 1985: 22: 647-8.
5. SEWRY CA, VOIT T, DUBOWITZ, V. Myopathy with unique ultrastructural features in Marinesco-Sjögren syndrome. Ann Neurol 1988: 24: 576-80.
6. STÅLBERG E, TRONTELJ JV (eds). Single fiber electromyography. Studies in healthy and diseased muscle. 2nd edn. New York: Raven Press, 1994.
7. STÅLBERG E, FAWCETT PRW. Macro EMG changes in healthy subjects of different ages. J Neurol Neurosurg Psychiatry 1982: 45: 870-8.
8. JABRE J. Concentric macro electromyography. Muscle Nerve 1991: 14: 820-5.
9. TORBERGSEN T, STÅLBERG E, AASLY J, LINDAL S. Myopathy in Marinesco-Sjögren syndrome: an electrophysiological study. Acta Neurol Scand 1991: 84: 132-8.
10. KOMIYAMA A, NONAKA I, HIRAYAMA K. Muscle pathology in Marinesco-Sjögren syndrome. J Neurol Sci 1989: 89: 103-13.
11. KODAMA S, KOMATSU M, MIYOSHI M, NAKAO H, SAKURAI TUM. Marinesco-Sjögren syndrome with reduced cytochrome c oxidase in muscle. Kobe J Med Sci 1992: 38: 245-54.
12. STÅLBERG E. Macro EMG. Muscle Nerve 1983: 6: 619-30.
13. TORBERGSEN T, AASLY J, BORUD O, LINDAL S, MELLGREN SI. Mitochondrial myopathy in Marinesco-Sjögren syndrome. J Ment Defic Res 1991: 35: 154-9.
14. CHOU YU, LIN MY, WANG PJ, WANG TR, SHEN YZ. Marinesco-Sjögren syndrome: report of one case. Acta Paediatr Sin 1992: 33: 212-17.
15. HIGUCHI S, TAKU K, FUKUHARA N, HOZUMI I, YAMAZAKI M. Marinesco-Sjögren syndrome: report of two patients in a family with muscle CT study. Rinsho Shinkeigaku 1993: 33: 89-91.
16. TACHI N, NAGATA N, WAKAI S, CHIBA S. Congenital muscular dystrophy in Marinesco-Sjögren syndrome. Pediatr Neurol 1991: 7: 296-8.
17. BORUD O, AASLY J, LINDAL S. Mitochondrial myopathy in six patients with Marinesco-Sjögren syndrome. Prog Clin Biol Res 1989: 306: 135-9.
18. ZIMMER C, GOSZTONYI G, CERVOS-NAVARRO J, VON MOERS A, SCHRODER JM. Neuropathy with lysosomal changes in Marinesco-Sjögren syndrome: fine structural findings in skeletal muscle and conjunctiva. Neuropediatrics 1992: 23: 329-35.
19. YAMANAGA H, IDETA T, OKAJIMA T, MORIMOTO K, NAGAKI J. Marinesco-Sjögren syndrome associated with peripheral nerve involvement, report of three cases in a family. Rinsho Shinkeigaku 1980: 20: 326-32.
20. HAKAMADA S, SOBUE G, WATANABE K, KUMAGAI T, HARA K, MIAZAKI S. Peripheral neuropathy in Marinesco-Sjögren syndrome. Brain Dev 1981: 3: 403-6.
21. ALEXIANU M, CHRISTODORESCU D, VASIELSCU C, DAN A, PETROVICI A, MAGUREANU S, SAVU C. Sensory motor neuropathy in a patient with Marinesco-Sjögren syndrome. Eur Neurol 1983: 22: 222-6.
22. SUPERNEAU DW, WERTELECKI W, ZELLWEGER H, BASTIAN F. Myopathy in Marinesco-Sjögren syndrome. Eur Neurol 1987: 26: 8-16.
23. WALKER PD, BLITZER MG, SHAPIRA E. Marinesco-Sjögren syndrome: evidence for a lysosomal storage disorder. Neurology 1985: 35: 415-19.
24. SKRE H, BASSOE HH, BERG K, FROVIG AG. Cerebellar ataxia and hypergonadotrophic hypogonadism in two kindreds, chance concurrence, pleiotropism or linkage? Clin Genet 1976: 9: 234-44.
25. LOWENTHAL A, BEKAERT J, VAN DESSEL F, VAN HAUWAERT J. Familial cerebellar ataxia and hypogonadism. J Neurol 1979: 222: 75-80.