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Publications (5)15.23 Total impact

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    ABSTRACT: Gypsy communities constitute cultural and frequently inbred genetic isolates. Several genetic neurological disorders have been identified in these communities. Epilepsy appears as a fairly frequent medical condition among Bulgarian Gypsies, and many patients can be related to large pedigrees that may then be studied by conventional genetic linkage analyses. We identified two large Wallachian Gypsy families from the Plovdiv and Varna regions of Bulgaria, with detailed clinical questionnaires and examination, and EEG recordings for many. Genetic linkage analysis was performed using microsatellite markers spaced across the human genome. Although phenotypes were not always easy to identify, epilepsy appears in both families as a dominant, or pseudo-dominant trait, with the characteristics of idiopathic generalized epilepsy with onset at various ages, with infrequent, generalized tonic-clonic seizures, some associated with fever in childhood, but without sensitivity to fever in later life. While few markers yielded LOD scores > 2, no locus showed significant linkage, assuming autosomal dominant or recessive modes of inheritance. Idiopathic generalized epilepsy, with a marked familial character, has not been reported to date in Bulgarian Gypsies. Both pedigrees studied here present with an identifiable epilepsy type inherited as a Mendelian trait. Despite the current lack of significant linkage, these families may constitute interesting ground for further genetic studies, on condition that more patients and families can be recruited. [Published with supplemental data on DVD].
    Epileptic disorders: international epilepsy journal with videotape 10/2007; 9(3):300-6. DOI:10.1684/epd.2007.0125 · 0.95 Impact Factor
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    ABSTRACT: Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of the D4Z4 repeat on 4q35. We describe a FSHD family of unusual genetic complexity presenting with two independent mitotic contractions of D4Z4 in two successive generations. In addition, a non-pathogenic FSHD-sized allele of approximately the same size is interfering with the DNA diagnosis in this family. Interestingly, this allele is not recognized by the probes 4qA and 4qB representing two distal variants of 4qter, suggesting the presence of yet another, infrequent variant of 4qter.
    Neuromuscular Disorders 08/2005; 15(7):471-5. DOI:10.1016/j.nmd.2005.03.005 · 2.64 Impact Factor
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    ABSTRACT: The congenital cataracts facial dysmorphism neuropathy syndrome (MIM # 60418) is a newly described autosomal recessive neuromuscular disorder, which was identified in Bulgaria among Gypsies and subsequently detected in other European countries. Sixty-eight individuals from 27 extended pedigrees were identified and examined clinically, electrophysiologically and genetically. The disorder is recognised in infancy by the presence of congenital cataracts and microcorneae. Motor development was delayed. A predominantly motor neuropathy beginning in the lower limbs and later affecting the upper limbs developed during childhood and lead to severe disability by the third decade. Motor nerve conduction velocities were reduced into hypomyelinating/demyelinating range. Neuropathological studies showed primary hypomyelination with superimposed demyelination and axonal degeneration later in the disease (2). Brain and spinal cord magnetic resonance imaging demonstrated abnormalities in most patients investigated. Associated neurological features include moderate non-progressive cognitive deficit in most affected individuals, together with pyramidal signs, mild chorea and mild ataxia in some. Accompaying non-neurological features include short stature, characteristic facial dysmorphism with lower facial segment involvement and hypogonadotropic hypogonadism. The disorder was mapped to 18q23-qter.
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    ABSTRACT: During a study of hereditary motor and sensory neuropathy-Lom in Bulgaria, a previously unrecognized neurological disorder was encountered, mainly in Wallachian Gypsies, who represent a relatively recent genetic isolate. The disorder has been termed the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome to emphasize its salient features. Fifty individuals from 19 extended pedigrees were identified and examined clinically and electrophysiologically. At least 1 patient from each family was admitted to the hospital in Sofia for full investigation. Pedigree analysis indicates autosomal recessive inheritance. The disorder is recognized in infancy by the presence of congenital cataracts and microcorneas. A predominantly motor neuropathy beginning in the lower limbs and later affecting the upper limbs develops during childhood and leads to severe disability by the third decade. Associated neurological features are a moderate nonprogressive cognitive deficit in most affected individuals together with pyramidal signs and mild chorea in some. Accompanying nonneurological features include short stature, characteristic facial dysmorphism, and hypogonadotrophic hypogonadism. Nerve conduction studies suggest a hypomyelinating/demyelinating neuropathy, confirmed by nerve biopsy. The CCFDN syndrome is thus a pleomorphic autosomal recessive disorder displaying a combination of neurological and nonneurological features.
    Annals of Neurology 07/1999; 45(6):742-50. DOI:10.1002/1531-8249(199906)45:6<742::AID-ANA8>3.3.CO;2-E · 9.98 Impact Factor
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    ABSTRACT: Fifty-three patients with single, multiple and/or multi-organ hydatid cysts were treated with mebendazole, in varying dosages (30-70 mg/ and over varying periods (6-24 months). Treatment failure was recorded if the mebendazole had no apparent effect on cyst morphology (monitored by radiology, ultrasonography and computed tomography) or only a parasitostatic effect (characterized by mixed and transitory, hypo- and hyper-echoic changes in the lesions). Cure was indicated by a parasitocidal effect (characterized by a totally echogenic picture, increased density of the cyst contents, reduction in the size or complete disappearance of the cysts, complete detachment of the endocysts and/or calcification of the cyst wall). Treatment failure was seen in about 40% of the patients and cure in about 38%; the other 23% had an intermediate result considered as an improvement. Cure rates increased both with dosage and duration, daily dosages of 60-70, 50 and 30-40 mg/kg curing 48%, 33% and 25%, respectively. The pre-treatment condition of any cysts should be taken into consideration when determining dosage and treatment duration.
    Pathogens and Global Health 07/1999; 93(4):357-65. DOI:10.1080/00034989958357 · 1.66 Impact Factor