Homozygous SLC20A2 mutations cause congenital CMV infection-like phenotype.

BACKGROUND: Idiopathic basal ganglia calcification, also known as Fahr's disease, it is a neurological disease characterized by intracranial calcification caused by heterozygous SLC20A2 mutations. Patients with calcifications can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, tremor, dystonia, ataxia, and seizures. OBJECTIVES: The aim of this study was to investigating the clinical implications of the SLCA20A2 gene and identifying a new phenotype through a family. METHODS: Two siblings with growth retardation, bilateral cataracts, microcephaly, and convulsion were included in the study. The MRI showed cerebral atrophy, corpus callosum hypoplasia, microcalcifications. Chromosomal microarray analysis was performed to identify the existence of copy number variation. The whole exome sequencing analysis of the individual IV-I was performed, and Sanger sequencing was performed for segregation. RESULTS: Whole exome sequencing revealed a homozygous NM_006749.5:c.1794 + 1G > A of the SLC20A2 gene. The Sanger sequencing confirmed the affected siblings were homozygous and the parents were heterozygous. CONCLUSIONS: SLC20A2 gene heterozygous mutations were associated with the adult-onset phenotype, while homozygous SLC20A2 mutations in the two affected siblings we reported in our study resulted in a severe clinic including growth retardation, bilateral cataracts, microcephaly, and convulsion. We showed that biallelic mutations in the SLC20A2 gene that cause the Fahr's disease lead to more severe phenotypes contrary to what is known. The two siblings, showing similar phonotypic and genotypic characteristics, would be the youngest cases in the pediatric age group published in the literature.

Nocturnal Rapid Eye Movement Sleep Without Atonia can Be a Diagnostic Parameter in Differentiating Narcolepsy Type 1 From Type 2.

PURPOSE: We aimed to compare rapid eye movement sleep without atonia (RSWA), tonic RSWA, and phasic RSWA indices during polysomnography as a potential biomarker between narcolepsy type 1 and type 2. METHODS: Medical files, polysomnography, and multiple sleep latency tests of patients with narcolepsy were evaluated retrospectively. A total of three adolescents and 31 adult patients were included. We calculated the total number of rapid eye movement (REM) epochs with tonic and phasic activity in accordance with the American Academy of Sleep Medicine manual scoring rules, version 2.4. We defined tonic RSWA index as the ratio of total number of REM sleep stage epochs with only tonic activity to total REM sleep stage epochs, phasic RSWA index as the ratio of total number of REM sleep stage epochs with only phasic activity to total REM sleep stage epochs, and RSWA index as the ratio of total number of REM stage sleep epochs with RSWA to total REM sleep stage epochs on the polysomnography. RESULTS: Clinically and polysomnographically diagnosed 25 patients with narcolepsy type 1 and 9 patients with narcolepsy type 2 were included. The median age of the subjects was 30 (10, 61) and 36 (18, 64), respectively. Eleven narcolepsy type 1 patients (44%) and 4 narcolepsy type 2 patients (44.44%) were women. The RSWA index of ≥ 3% yielded a sensitivity of 76% and specificity of 88.9% (AUC = 0.77 (0.09), 95% confidence interval = 0.58 to 0.97, p = 0.01), and the tonic RSWA index of ≥ 2.2% yielded a sensitivity of 72% and specificity of 77.8% (area under the curve = 0.74 (0.1), 95% confidence interval = 0.54-0.94, p = 0.03). CONCLUSIONS: As an electrophysiological biomarker, RSWA and tonic RSWA indices can be sensitive and specific polysomnography parameters in distinguishing narcolepsy type 1 from narcolepsy type 2.

The coexistence of psychogenic nonepileptic and epileptic seizures in the same patient is more frequent than expected: Is there any clinical feature for defining these patients?

OBJECTIVES: This study aimed to investigate the prevalence of psychogenic nonepileptic seizures (PNES) and PNES-epilepsy coexistence within all video-electroencephalography (EEG) monitoring unit (VEMU) referrals and to identify semiological and electrophysiological features to differentiate patients with PNES-epilepsy coexistence from PNES-only. METHODS: We retrospectively reviewed medical files, VEMU reports, and videos of 1983 adult patients. Demographical, historical, clinical, neuroimaging, and electrophysiological parameters of all patients were recorded. We classified patients into five groups as definite PNES-only, definite PNES-epilepsy coexistence, definite PNES-probable epilepsy coexistence, probable PNES-definite epilepsy coexistence, and probable PNES-only. We defined a "definite" group when we saw the ictal EEG and/or video recording of the seizure. The "probable" term is used when there is strong evidence from the history of a particular seizure type and suggestive interictal EEGs without video recordings. RESULTS: Two hundred and three of 1983 patients (10.23%) had PNES. Sixty-six of patients with PNES (32.51%) had definite PNES-epilepsy coexistence. When probable cases were included, the PNES-epilepsy coexistence ratio was 53.69% within all patients with PNES. The prevalence of PNES-epilepsy coexistence was 3.32% within all our VEMU referrals. Lower high school graduation rate, earlier age of disease onset, history of status epilepticus, febrile convulsion and brain surgery, use of three or more antiepileptic drugs, and abnormal magnetic resonance imaging (MRI) findings supported PNES-epilepsy coexistence (p < 0.05). On the contrary, seizure duration longer than 10 min was in favor of PNES-only (p < 0.05). CONCLUSIONS: The prevalence of PNES-epilepsy coexistence might be more frequent in VEMUs than expected. Some demographic and semiological features and electrophysiological findings might be useful in differentiating patients with PNES-epilepsy coexistence from patients with PNES-only.

Is NREM-predominant obstructive sleep apnea syndrome a different clinical entity?

Background/aim: This study aimed to evaluate whether NREM-predominant obstructive sleep apnea syndrome (OSAS) patients (NREM AHI < REM AHI) have distinct clinical and polysomnographic features compared to REM-predominant OSAS patients (REM AHI > NREM AHI). Materials and methods: A total of 342 patients (93 females and 249 males) who were admitted to the Sleep Disorders Unit at the Gazi University Faculty of Medicine and underwent polysomnography between January 2011 and April 2016 were retrospectively reviewed. Patient data, symptoms related to OSAS, Epworth Sleepiness Scale (ESS) scores, and polysomnographic findings were recorded. The patients were divided into two groups according to the apnea-hypopnea index (AHI) as patients with NREM-predominant OSAS and patients with REM-predominant OSAS. Results: The total AHI in the NREM-predominant group was significantly higher than in the REM-predominant group (P < 0.001). The patients with severe OSAS constituted the majority in both groups, and the rate of patients with severe OSAS was significantly higher in the NREM-predominant group than in the REM-predominant group (P < 0.001). Arousal index and sleep time spent under 90% SaO2 was higher in the NREM-predominant group (P = 0.005, P = 0.001), whereas nocturnal mean and minimum O2 saturation values were lower in the NREM-predominant group compared to patients with REM-predominant OSAS (P < 0.001, P = 0.013). In evaluating systemic disorders, the prevalence of coronary artery disease was significantly higher in the NREM-predominant OSAS group (P < 0.001). Conclusion: Our results showed that patients with NREM-predominant OSAS had a more severe course than patients with REMpredominant OSAS. However, we found no significant difference in sleep-specific symptoms, suggesting that the two groups represented distinct entities.

[Validation of the revised illness perception questionnaire for migraine patients and the effects of earthquake experience on perception of disease]. / Migren hastalarinda revize hastalik algisi ölçeginin geçerliligi ve deprem tecrübesinin hastalik algisi üzerine etkisi.

OBJECTIVES: The aim of this study was to investigate the reliability of the Revised Illness Perception Questionnaire (IPQ) and to determine the effects of earthquake experience on the perception in migraine patients. METHODS: The sample was composed of 62 outpatients, consisting of with migraine diagnosis who were in Ercis during earthquake (n=33) and who had never had any earthquake experience (n=29).The interview form, IPQ-R and Beck Depression Scale (BDS) were applied. The study was carried out on migraine patients whose mean age was 31 and who had been diagnosed since 7.8 years. Comparison of groups with earthquake experience (group1) and without experience (group 2) there were no difference in point of demographic findings and disease severity (p>0.05). RESULTS: In the part concerning the manifestations of the disease, the most frequently manifestations were found pain, headache and fatige. The test was determined to be reliable. Illness coherence and timeline (cyclic) subscale scores (p<0.05) and BDS score (z: -2.006, p<0.05)were significantly higher in group 1. Although an earthquake caused an increase in depression scores did not cause much change in the IPQ-R scores. Group1 understand disease better and realize of the cyclical nature of the disease. Other perception parameters of the disease were same in both groups. CONCLUSION: A severe life event such as an earthquake did not much change IPQ-R scores in migraine patients. The results of this study demonstrated that IPQ could be used reliably in the Turkish migraine patients.

Validation of the Revised Illness Perception Questionnaire in Turkish epilepsy patients and the effects of earthquake experience on perception of disease.

OBJECTIVE: The aims of this study were to investigate the reliability of the Revised Illness Perception Questionnaire (IPQ-R) in Turkish patients with epilepsy (PWE) and to determine the effects of earthquake experience on the perception of disease in patients. MATERIALS AND METHODS: The sample was composed of 48 PWE, who were affected by the 2011 earthquake (n=21) or who had never had any earthquake experience (n=27). The interview form, IPQ-R, and Beck Depression Scale (BDS) were applied. RESULTS: The study was carried out on PWE whose mean age was 20.9 years (±8.1 years) and who had been diagnosed within the last 10 years (±6.9 years). IPQ-R consisted of three parts: illness identity, attributions concerning the disease, and probable causes. In the part of illness identity, the most frequently met manifestations were fatigue (76.6%) and headache (72.9%). Regarding attributions concerning the disease and probable causes, the test was determined to be reliable (reliability coefficient 0.715-0.814). In terms of personal control, timeline (acute/chronic), emotional representations, illness coherence, consequences, treatment control, and timeline sub-scales, which were investigated at the dimension about attributions concerning the disease, and psychological causal attributions, risk factors, and immunity subscales, which were investigated at the dimension about probable causes, no significant differences were found between groups (P>0.05). No difference was determined in terms of BDS scores (z=-0.895, P>0.05). CONCLUSION: The results of this study demonstrated that IPQ-R could be used reliably in the Turkish PWE. A severe life event such as an earthquake did not change IPQ-R scores in PWE.

Pathophysiology underlying drooling in Parkinson's disease: oropharyngeal bradykinesia.

We aimed to investigate the association between drooling and possible etiological factors in Parkinson's disease (PD) and to determine its effect on the quality of life. Demographic data of the 63 patients with idiopathic PD were recorded. Radboud Oral Motor Inventory for Parkinson's disease (ROMP) test was administered to all patients to evaluate speech, swallowing functions, and saliva control. The freezing of gait questionnaire (FOGQ) was used to evaluate gait and freezing of gait. Dynamic Parkinson gait scale (DYPAGS) was administered for the objective quantification of PD gait features. Disease severity was assessed by UPDRS and modified Hoehn & Yahr Scale. PD specific health-related quality was evaluated by PDQ-39 questionnaire. Drooling was only significantly correlated to UPDRS score; a stronger association was found between drooling and UPDRS 3 motor score; and a more significant association was determined between drooling and the bradykinesia questions of the motor part of UPDRS 3. Interestingly, no significant association was found between sialorrhea score and PDQ-39 score. Based on the results of this study, we concluded that oropharyngeal bradykinesia may be responsible for drooling in PD. In contrast to a general expectation, we did not find any adverse impact of drooling on the quality of life.

Elevated interictal serum HSP-70 levels as an indicator of neurodegeneration for chronic migraine.

OBJECTIVE: To investigate whether there is a relationship between chronic migraine and heat shock protein-70. METHODS: The case-control progressive study was conducted at Ankara Numune Teaching and Research Hospital, Ankara, Turkey, from January to June 2013, and comprised patients over 18 years of age who were diagnosed with chronic migraine and did not have any other known neurological illness. Age and gender-matched volunteers with no history of headache or neurological illness were included as controls. In order to exclude other central nervous system diseases, computed tomography and/or magnetic resonance imaging was carried out. Blood samples to evaluate serum heat shock protein-70 levels were obtained from the patients during headache-free periods and from the controls following 8 hours of fasting. The samples were interpreted using the enzyme-linked immunosorbent assay reader. RESULTS: There were 40 controls and an equal number of cases in the study. Mean heat shock protein-70 levels were higher in the cases 2.37±1.91ng/dl compared to thecontrols1.81±1.30 ng/dl, but the difference was not statistically significant (p=0.12). Serum heat shock protein-70 levels were also compared in terms of the duration of migraine disease, frequency of migraine attacks, Visual Analogue Scale score, migraine attack duration and the presence of aura, but no statistically significant difference was found (p=0.13, p=0.17, p=0.90, p=0.68, p=0.95 respectively). CONCLUSIONS: Heat shock protein-70 was not a reliable chronic migraine biomarker.

Clinical associations, biological risk factors and outcomes of cerebral venous sinus thrombosis.

Objective Cerebral venous sinus thrombosis (CVST) is a rare cerebrovascular disease affecting young adults. The majority of the patients are female. The aim of this study is to assess the clinical associations, risk factors and outcomes of the patients with CVST. Methods The data of 75 patients with CVST admitted to our hospital between 2006 and 2016 were reviewed. Demographic and clinical features and the thrombophilic risk factors of the patients were recorded. The localizations of the thrombi were determined and modified Rankin score at the time of onset and discharge were calculated. Results The majority of our patients (78.7%) were female. Median age was 35 years (16-76). The most common symptom was headache (86.7%). In 82.6% of our patients, inherited or acquired risk factors for thrombosis were detected. Transverse sinus was the most common site of thrombosis followed by sigmoid and superior sagittal sinuses. Two thirds of the patients had involvement of multiple sinuses. The patients with the involvement of sagittal sinus had better disability at the time of admittance ( p = 0.013) while the number of involved sinuses was correlated worse disability ( p = 0.015). The neurologic states in the majority of the patients were improved by the end of the hospitalization period ( p = 0.001). There was no significant difference in disability score at discharge between men and women ( p = 0.080). No patient with CVST died in the hospitalization period. Conclusions This study is one of the largest cohort studies on CVST in our region. The results of the study disclosed that CVST had wide range of clinical manifestations and non-specific symptoms at the beginning. For that reason, in especially high risk groups for thrombosis, the diagnosis of CVST should be kept in mind.