Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: Clinical and electrophysiological observations

Annals of Neurology

Volumn 45, Issue 6, 1999, Pages 742-750

  Tournev, Ivailo ^a,b   Kalaydjieva, Luba ^b   Youl, Bryan ^g   Ishpekova, Boryana ^a   Guergueltcheva, Velina ^a   Kamenov, Ognian ^b   Katzarova, Maria ^b,c   Kamenov, Zdravko ^a   Raicheva Terzieva, Margarita ^a   King, R H M ^h   Romanski, Kiril ^e   Petkov, Radoslav ^a   Schmarov, Alexander ^a   Dimitrova, Galina ^a,b   Popova, Nevena ^a   Uzunova, Maria ^a   Milanov, Stephen ^d   Petrova, Julia ^a   Petkov, Yanko ^a   Kolarov, Georgi ^a   Aneva, Lidia ^b,f   Radeva, Olia ^a   Thomas, P K ^h   more..

^a MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^b Ethnic Minorities Health Problems Foundation   (Bulgaria)

^c National Center for Addictions   (Bulgaria)

^d Clin Ctr Nucl Med and Radiother   (Bulgaria)

^e National Center for Neurosurgery   (Bulgaria)

^f United Regional Hospital   (Bulgaria)

^g ROYAL FREE HOSPITAL   (United Kingdom)

^h ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BULGARIA; CHILD; CHOREA; COGNITIVE DEFECT; CONGENITAL CATARACT; CONGENITAL CATARACT FACIAL DYSMORPHISM NEUROPATHY SYNDROME; FACE DYSMORPHIA; FEMALE; GENETIC DISORDER; GIPSY; HUMAN; HUMAN TISSUE; HYPOGONADOTROPIC HYPOGONADISM; MAJOR CLINICAL STUDY; MALE; MOTOR NERVE CONDUCTION; NEUROLOGIC DISEASE; PRIORITY JOURNAL; SHORT STATURE;

EID: 0033015804     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(199906)45:6<742::AID-ANA8>3.0.CO;2-N     Document Type: Article

References (13)

1. Kalaydjieva L, Hallmayer J, Chandler D, et al. Gene mapping in gypsies identifies a novel demyelinating neuropathy on chromosome 8q24. Nat Genet 1996;14:214-217
2. Kalaydjieva L, Nikolova A, Tournev I, et al. Hereditary motor and sensory neuropathy-Lom: a novel demyelinating neuropathy associated with deafness in gypsies. Brain 1998;121: 399-408
3. Tyson J, Ellis D, Fairbrother U, et al. Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome. Brain 1997;120:47-63
4. Noll F. Lactate determination with LDH, GPT and NAD. In: Bergmeyer HU, ed. Methods of enzymatic analysis. New York: Academic Press, 1974:1475
5. Slanchev P. Physical development of the Bulgarian population. Sofia: Bulgarian Sports Association 1992:34-86
6. Angelicheva D, Tournev I, Dye D, et al. Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter. Eur J Hum Genet (In press)
7. Bain PG, Britton TC, Jenkins IH, et al. Tremor associated with benign IgM paraproteinaemic neuropathy. Brain 1996;119: 789-799
8. Jacobs JM, Harding BN, Lake BD, et al. Peripheral neuropathy in Leigh's disease. Brain 1990;118:447-462
9. Sjögren T. Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia. Confin Neurol 1950;10:293-308
10. Begeer JH, Scholte FA, Van Essen AJ. Two sisters with mental retardation, cataract, ataxia, progressive hearing loss and polyneuropathy. J Med Genet 1991;28:884-885
11. Gold GN, Hogenhuis LA. Hypertrophic interstitial neuropathy and cataracts. Neurology 1968;18:526-533
12. Flynn P, Aird RB. A neuroectodermal syndrome of dominant inheritance. J Neurol Sci 1965;2:161-182
13. Stromgren, Dalby A, Dalby MA, Ranheim B. Cataract, deafness, cerebellar ataxia, psychosis and dementia - a new syndrome. Acta Neurol Scand 1970;46:261-267