Sevda Erer

Clinical characteristics of tension-type headache and migraine in adolescents : A student-based study

Background and objectives.—Adolescent headaches, particularly migraine, might present with different features from adult headaches. The objectives of this study were to investigate the characteristics of tension‐type headache and migraine, to find the sensitivity and specificity of the diagnostic criteria of the IHS classification according to age and gender.

The prevalence and clinical features of restless legs syndrome: a door to door population study in Orhangazi, Bursa in Turkey.

BACKGROUND Restless leg syndrome (RLS) has negative effects on the quality of life of the patients. Epidemiological studies on RLS are limited. AIM To determine the prevalence of RLS among people aged 40 years and above in Orhangazi district of Bursa, Turkey. MATERIALS AND METHODS The study was carried out between 2004 and 2005. This population-based study was conducted in two phases. In the phase 1, residents conducted door-to-door interviews using a short questionnaire to determine the possible cases of RLS. In the phase 2, physicians ascertained the suspected cases of RLS. Diagnosis of RLS was made using the criteria proposed by the International Restless Legs Syndrome Study Group (IRLSSG) and also the rating scale for RLS. RESULTS Out of 1, 256 subjects screened in phase 1, 1,124 (89.6%) were included in the study. Also, 161 cases with suspected symptoms of RLS were detected in phase 1, 49 of the suspected cases could not be evaluated in phase 2. A diagnosis of RLS was also made in 60 cases during phase 2. CONCLUSIONS We defined the prevalence of RLS as 9.71% among 40 years of age and older population. The prevalence of RLS did not differ by age and was 2.6 times more in women. None of the patients were diagnosed as RLS sought medical care for the symptoms, possibly due to lack of knowledge of patients and physicians about RLS. Prevalence studies help to provide knowledge on morbidity, which is essential for diagnosis and early treatment.

The impact of education on the diagnostic accuracy of tension-type headache and migraine: a prospective study.

General practitioners (GPs) diagnose and treat headache in primary care settings. The objective of this study was to investigate the effect of a 2-day headache education programme for GPs primarily on diagnostic accuracy. The education programme included theoretical lectures and face-to-face patient evaluation with headache specialists. Three GPs evaluated headache patients before and after the programme. Each GP was planned to interview a total of 60 patients (30 before, 30 after the programme). All patients were evaluated by headache specialists following evaluation by the GPs. A total of 189 patients were included in this study. Diagnostic accuracy increased from 56.3% to 81.0% after the headache education programme (P < 0.001), which also significantly improved the choice of proper treatment (P = 0.043). The headache education programme for GPs significantly improved diagnostic accuracy in patients with tension-type headache and the choice of proper treatment. Such education programmes can be standardized and given to GPs working in the primary care setting. These programmes can be arranged locally by the universities and might have a favourable impact on the diagnosis and treatment of headache.

The first Susac's syndrome case in Turkey

Susacs syndrome is a vasospastic disease resulting from bilateral microangiopathy of the brain, cochlea and retina. It is characterized by encephalopathy, bilateral sensorineural fluctuating hearing loss and visual loss. It is very uncommon and usually affects women during young adulthood. Since all three symptoms of the triad may not be present, the clinical diagnosis is difficult. Therefore, neuroimaging, particularly magnetic resonance imaging, has an important role in establishing the diagnosis. In this case report, we present a young woman who had all the symptoms of Susacs syndrome. This is the first Susacs syndrome case reported in Turkey.

Structural and neurochemical evaluation of the brain and pons in patients with Wilson’s disease

PurposeThe aim of this study was to examine the structural-neurochemical abnormalities of the frontal white matter (FWM), deep gray matter nuclei, and pons in patients with Wilson’s disease (WD) using proton magnetic resonance spectroscopy (MRS) and diffusion-weighted imaging (DWI).Materials and methodsNine patients with WD and 14 age-matched controls were examined with MRS. N-Acetylaspartate (NAA), choline (Cho), and creatine (Cr) peaks were calculated. DWI scans from six WD patients and six controls were also obtained. The relative metabolite ratios and apparent diffusion coefficient (ADC) values of the WD patients were compared to those of the control subjects by using statistical measures.ResultsMeasurements in the thalamus and pons showed significantly lower NAA/Cho and NAA/Cr ratios in the WD group than in the control group (P < 0.05). Thalamic and pontine Cho/Cr ratios in the patient group were significantly higher than those of the control group (P < 0.05). No statistically significant relation was found between the patient and control groups as a result of the MRS examinations of FWM and all ADC measurements (P > 0.05).ConclusionMRS is a noninvasive, valuable modality for detecting structural-neurochemical changes of the brain stem and deep gray matter in patients with WD. The contribution of DWI in these patients is limited.

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 Parkinsons 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>G in 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, PINK1, DJ1 and SNCA mutations are associated with early-onset Parkinsons 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.

Primary gait ignition disorder: report of three cases

Gait ignition failure (GIF) classifications all had major limitations. Few years ago, a new and simpler classification was proposed by Liston. The aim of this paper is to discuss three GIF patients with respect to this new classification. All three patients presented with hesitation to start walking and turning and their neurological examination revealed start and turn hesitation without any other abnormality. We classified our patients according to Liston’s classification as ignition apraxia, which enabled us to approach the patients in a practical way. This classification helps to understand the underlying pathologies and combines clinical characteristics and pathophysiology. We reported our experience with pergolide in the treatment of patients suffering from primary GIF and underline the fact that more research is needed on the treatment of this condition.

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

Abstract 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.

Turkish Standardization of Movement Disorders Society Unified Parkinson's Disease Rating Scale and Unified Dyskinesia Rating Scale

Movement Disorders Society Unified Parkinsons Disease Rating Scale (MDS‐UPDRS) and Unified Dyskinesia Rating Scale (UDysRS) were developed as standard tools to rate Parkinsons disease (PD) and drug‐induced dyskinesias of PD. As these scales have become widely used, there is a need for translation to non‐English languages. Here we present the standardization for the Turkish translations.