Margarita Radoslavova Raycheva

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A recent report (Vermeer et al. in Am J Hum Genet 87:813–819, 2010) implicated for the first time the ANO10 gene in the genetic basis of autosomal recessive cerebellar ataxias. One of the three described families were Roma/Gypsies from Serbia, where the affected individuals were homozygous for the truncating p.Leu384fs mutation and displayed distinct(More)
Recent studies suggest that onset of dementia in Parkinson's disease (PD) is preceded by a phase known as mild cognitive impairment (MCI). Different clinical subtypes of MCI in PD were found. The objective of this study was to investigate whether patients with PD diagnosed with amnestic MCI (aPD-MCI) have also subtle deficits in other cognitive domains and(More)
Neurosyphilis results from infection of the brain, meninges or spinal cord by Treponema pallidum and develops in about 25%-40% of persons who are not treated for syphilis. This article reports a rare case of active neurosyphilis with mild dementia, chronic chorioretinitis, and hearing loss. During the treatment with Penicillin, a rare combination of(More)
Substance-dependent individuals (SDIs) often show neurocognitive deficits in decision-making, such that their choices are biased toward the greatest immediate reward rather than the optimal future outcome. However, studies of SDIs are often hampered by two significant methodological challenges: polysubstance dependence and comorbid conditions, which are(More)
BACKGROUND This article reports a rare case of active neurosyphilis in a man with mild to moderate dementia and marked hippocampal atrophy, mimicking early onset Alzheimer's disease. Few cases have so far described bilateral hippocampal atrophy mimicking Alzheimer's disease in neurosyphilis. CASE PRESENTATION The patient presented here is a 33 year old(More)
BACKGROUND The specific profile of dementia in Parkinson's disease (PDD) and dementia with Lewy bodies (DLB) in the earliest stages of dementia is still unclear and subject of considerable controversy. METHODS We investigated 27 PDD patients and 24 DLB patients with parkinsonism in the early stage of dementia, i.e. with a Mini-Mental State Examination(More)
BACKGROUND The causative mechanisms of type 2 diabetes (T2D) on cognitive dysfunction are still undergoing development. AIM To explore the cognitive dysfunction profile and its relation to the potential role of arterial stiffness in later middle age T2D patients. METHODS We studied 37 patients with T2D (age range 45-65 years) and 22 normal controls. All(More)
The presence of variable degrees of non progressive cognitive impairment is recognized as a clinical feature of patients with Duchenne and Becker muscular dystrophies (DMD and BMD), but its pathogenesis still remains a matter of debate. A number of findings have proved that rearrangements located in the second part of the dystrophin ( DMD ) gene seem to be(More)
Sirs: Wilson’s disease (WD) is a relatively rare inherited autosomal recessive disorder of copper metabolism that results in accumulation of copper in the liver and subsequently in other organs, mainly the central nervous system [1, 2]. The diagnosis is determined by the presence of the characteristic symptoms in conjunction with laboratory testing(More)
INTRODUCTION The study aimed to compare the profile of very mild and mild dementia with Lewy bodies (DLB) patients with disease duration up to 5 years in order to find markers for faster progression in this early stage. METHOD We investigated 45 DLB patients with disease duration up to 5 years and 22 normal controls. DLB patients were divided into two(More)