A case of primary gait ignition failure

Gait ignition failure (GIF) is clinically and pathologically a poorly defined term that has gone with many different names before. Coexistence with idiopathic Parkinson’s disease, progressive supranuclear palsy, multisystem atrophy, vascular parkinsonism, posthypoxic pallidal lesions and normal pressure hydrocephalus is common. Primary GIF is rare. Main problem is start hesitation and freezing. Here, we present a 69 year old woman whose chief complaint is difficulty of gait. She did not have any other extrapiramidal signs and her MRI did not reveal any abnormality. She was diagnosed as primary gait ignition failur

Mutation analysis of the PARKIN, PINK1, DJ1, and SNCA genes in Turkish early-onset Parkinson's patients and genotype-phenotype correlations

Objective: Variations in PARK genes (PRKN, PINK1, DJ-1, and SNCA) cause early-onset Parkinson's disease (EOPD) in different populations. In the current study, we aimed to evaluate the frequencies of variations in PARK genes and the effects of these variations on the phenotypes of Turkish EOPD patients. Methods: All coding regions and exon-intron boundaries of the PRKN, PINK1, DJ-1, and SNCA genes were screened by heteroduplex analysis followed by direct sequencing of the detected variants in 50 Turkish EOPD patients. These variants were evaluated using SIFT, PolyPhen, HSF, and LOVD web-based programs. Results: The frequency of EOPD-associated variations in the PRKN gene was 34%. Among these variations, p.A82E in exon 3 and p.Q409X in exon 11 was determined to be pathogenic. We also defined previously unknown cryptic variations, including c.872-35 G > A and c.872-28T > Gin exon 8 of PRKN and c.252 + 30 T > G and c.322 + 4 A > G in exons 4 and 5 of DJ1, respectively, that were associated with EOPD. Although no significant association was observed between the PARK gene mutations and clinical features (P > 0.05), the alterations were related to the clinical symptoms in each patient. Conclusion: An increasing number of studies report that PRKN, PINK), DJ1 and SNCA mutations are associated with early-onset Parkinson's disease; however, a limited number of studies have been conducted in Turkey. Additionally, our study is the first to evaluate the frequency of SNCA mutations in a Turkish population. The aim of this study was determine the frequency distributions of the PRKN, PINK1, DJ1, and SNCA gene mutations and to analyze the relationships between these genetic variations and the clinical phenotype of EOPD in Turkish patients

Charles Bonnet Syndrome: Three Cases

Charles Bonnet syndrome (CBS) is characterized by the presence of visual hallucinations due to the decrease in visual acuity or loss of vision without any pschiatric problem. We report three patients of aged 73, 76, and 75 years with a severe loss of vision due to ocular diseases and visual hallucinations. Case 1 was a man aged 73 years who presented with visual hallucinations that completely recovered after cataract surgery. Case 2 was woman aged 75 years with severe visual impairment from end-stage age-related macular degeneration, thus visual hallucinations continued to persist. Case 3 was legally blind with CBS-type visual hallucinations and amnestic dementia syndrome. CBS may terminate spontaneously or continue for months or years. Ideally, the patient should be considered for ophthalmologic intervention. Although CBS is benign, the visual hallucinations can cause great anxiety for patients. Patients should be warned about the adverse effects of pharmacologic therapy. Cognitive decline may occur at early stages or later

Epigenetic approach to early-onset Parkinson's disease: Low methylation status of SNCA and PARK2 promoter regions

Background and aim: The effect of epigenetic modifications in the genes related to Parkinson's disease (PD) is still unclear. In the present study, we investigated methylation status of SNCA and PARK2 genes in patients with early-onset Parkinson's disease (EOPD). Materials and methods: The promoter region methylation status of SNCA and PARK2 genes was evaluated by methylation specific-PCR (MSP) in 91 patients with EOPD and 52 healthy individuals. Results: The methylation of SNCA and PARK2 promoter regions were significantly lower in EOPD patients compared to the control group (P = 0.013 and P = 0.03, respectively). We also found that the methylation status of the SNCA might be associated with positive family history of PD (P = 0.042). Conclusion: Although it should be supported by further analysis, based on the results of the present study, the methylation status of SNCA and PARK2 genes might contribute to EOPD pathogenesis

Herpes simplex virus encephalitis: Clinical manifestations, diagnosis and outcome in 106 adult patients

WOS: 000335738000006PubMed ID: 24768322Background: Herpes simplex virus (HSV) is one of the most common causes of sporadic encephalitis worldwide. Objective: We aimed to determine clinical characteristics and prognosis of HSV encephalitis (HSVE) cases reviewed retrospectively from several collaborating centers. Study design: We searched hospital archives of the last 10 years for patients with HSVE diagnosis, i.e. clinical presentation compatible with encephalitis and brain involvement on magnetic resonance imaging (MRI) and/or detection of HSV DNA in the cerebrospinal fluid by polymerase chain reaction (PCR). Clinical characteristics were noted and patients were phone-interviewed. HSVE cases were grouped and analyzed as proven and probable, based on virological confirmation by PCR. Univariate and multivariate analyses were used to determine factors associated with prognosis. Results: A total of 106 patients (63 males and 43 females; mean age, 44 years; range, 18-83 years) were included. Most common symptoms were changes in mental status, fever, headache, and seizure. HSV PCR was positive in 69% of patients tested, while brain involvement was detected on MRI in 95%. Acyclovir was started mostly within five days of main symptom and continued for >= 14 days. Case fatality rate was 8%, while 69% of patients recovered with sequelae. Favorable prognosis was observed in 73% of patients. Multivariate analysis identified the duration of disease before hospital admission (odds ratio (OR) = 1.24) and the extent of brain involvement on MRI at the time of admission (OR = 37.22) as two independent risk factors associated with poor prognosis. Conclusions: Although HSVE fatality regressed considerably with acyclovir treatment, many patients survive with sequelae. Our results emphasize the importance of early diagnosis and prompt treatment of HSVE

Multicenter study of levodopa carbidopa intestinal gel in Parkinson's disease: the Turkish experience

Background/aim: Our purpose was to determine the efficacy of levodopa carbidopa intestinal gel (LCIG) in a series of Turkish patients with Parkinson's disease (PD)

Multicenter study of levodopa carbidopa intestinal gel in Parkinson’s disease: the Turkish experience

Background/aim: Our purpose was to determine the efficacy of levodopa carbidopa intestinal gel (LCIG) in a series of Turkish patients with Parkinson's disease (PD). Materials and methods: We had telephone calls with 54 patients from 11 neurology centers who were on LCIG treatment, and 44 patients or their caregivers were included in an eight-item survey between September 2015 and June 2016. The reliability and validity of the survey were evaluated with intraclass correlation coefficients for every question separately. Results: Average age of the patients were 63.48 and the duration of PD was 12.79 years. Average LCIG treatment period was 15.63 months. Percentages of the patients who reported they were `better' after LCIG treatment were as follows: 80\% for time spent off, 55\% for dyskinesia, 65\% for tremor, 85\% for gait disorder, 50\% for pain, 50\% for sleep disorders, 42.5\% for depression, 32.5\% for incontinence, and 70\% for activities of daily living. Cronbach's alpha was 0.795 and the intraclass correlation coefficient was reliable for the items. Conclusion: As detected by a survey performed by telephone calls with good interrater reliability, patients with PD improve with LCIG treatment in many aspects of the disease