Stiff person syndrome (SPS) is a disease characterized by rigidity in the extremities, axial muscles, and abdominal muscles, severe and painful spasms, and accompanying gait disturbances. Stiff person syndrome is most common in adults between the ages of 20 to 50 and in female sex. The most frequently reported antibody in patients with SPS is antibodies developed against glutamic acid decarboxylase enzyme. In this article, two SPS cases from different age groups who presented with gait disturbance and painful spasms and were found to have glutamic acid decarboxylase antibody positivity were reported with clinical and electrophysiological findings in the light of the literature. As in our cases, SPS should be considered in the differential diagnosis of patients of all age presenting with muscle stiffness and spasms, specifically those that increase with stimulus.

Objectives: Wilson disease is an inherited disorder that results in copper accumulation in the tissues with liver injury and failure. Orthotopic liver transplant is one of the treatments of choice for this disease. The aim of this study was to compare the neurological symptoms, before and after orthotopic liver transplant, of patients with liver cirrhosis due to Wilson disease, who represent a special group of patients with liver failure. Materials and Methods: Between 2007 and 2020, there were 24 patients with Wilson disease resistant to medical treatment who underwent deceased donor orthotopic liver transplant and were followed up for 1 year, 5 years, and 10 years for evaluation with neurological scoring systems. Patients were also evaluated for postoperative complications and survival. Results: Of the 24 patients evaluated, there were 13 (54.2%) female patients and 11 (45.8%) male patients, and the mean age was 34 years (range, 14-57 years). One of the patients died from early postoperative sepsis. After orthotopic liver transplant, disease scores returned to normal in 16 patients and improved in the remaining patients. Before transplant, all patients required help in their daily activities. After transplant, there were significant improvements in some symptoms, and the patients became more independent in their daily lives. Conclusions: Our study shows that orthotopic liver transplant provides significant improvement in neurological symptoms and quality of life in patients with Wilson disease.

The genetic and epidemiological features of hereditary ataxias have been reported in several populations; however, Turkey is still unexplored. Due to high consanguinity, recessive ataxias are more common in Turkey than in Western European populations.

OBJECTIVE:To investigate the shape differences in the putamen of early-onset Parkinson's patients compared with healthy controls and to assess and to assess sub-regional brain abnormalities.METHODS:This study was conducted using the 3-T MRI scans of 23 early-onset Parkinson's patients and age and gender matched control subjects. Landmark coordinate data obtained and Procrustes analysis was used to compare mean shapes. The relationships between the centroid sizes of the left and right putamen, and the durations of disease examined using growth curve models.RESULTS:While there was a significant difference between the right putamen shape of control and patient groups, there was not found a significant difference in terms of left putamen. Sub-regional analyses showed that for the right putamen, the most prominent deformations were localized in the middle-posterior putamen and minimal deformations were seen in the anterior putamen.CONCLUSION:Although they were not as pronounced as those in the right putamen, the deformations in the left putamen mimic the deformations in the right putamen which are found mainly in the middle-posterior putamen and at a lesser extend in the anterior putamen.

Objective: A functional single nucleotide polymorphism, rs1611115, in the dopamine β-hydroxylase (DBH) gene, is reported to regulate plasma enzyme activity levels.Here, we report the first evaluation of this association in patients with early-onset Parkinson's disease (EOPD) and healthy controls in the Turkish population.Materials and Methods: We evaluated the DBH rs1611115 polymorphism in 114 (64 male and 50 female) Turkish patients with EOPD and 58 sex-and agematched healthy controls from the Turkish population.A total of 27.2% (n=31) of our patients who had any variation including pathogenic or non-pathogenic missense, non-sense and/or intronic variation with unknown significance in EOPD genes were grouped as "variation-positive EOPD".A total of 50.8% (n=58) of our patients were grouped as "variation and family history-negative EOPD" and the possible contribution of the DBH rs1611115 polymorphism to EOPD pathogenesis was evaluated in this group.Results: There was no significant difference in the genotypic and allelic frequencies of DBH rs1611115 between patients with EOPD and controls.To our knowledge, this is the first evaluation of the DBH rs1611115 polymorphism in patients with EOPD and ethnically matched controls in the Turkish population.Conclusion: Some previous studies have reported conflicting association results between DBH rs1611115 polymorphism and PD pathogenesis in different ethnic groups.Therefore, further studies are needed to evaluate dopamine metabolism-related genetic variants and to determine their possible roles in EOPD susceptibility in the Turkish population.

Apomorphine is a dopamine agonist used in the treatment of some motor and non-motor complications during Parkinson's disease, which could be administered as an intermittent or continuous infusion. Although apomorphine treatment has been shown to be effective on motor fluctuations and dyskinesias, there is no sufficient consensus regarding the administration of apomorphine test or infusion, and the management of the treatment. In this review, our aim is to create a "treatment management guideline," which includes recommendations for the use of apomorphine in the clinical practice, and to discuss the problems encountered in both intermittent and continuous infusion applications, in the light of the literature.

Objective To delineate the full phenotypic spectrum, discriminative features, piloting longitudinal progression data, and sample size calculations of replication factor complex subunit 1 (RFC1) repeat expansions, recently identified as causing cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). Methods Multimodal RFC1 repeat screening (PCR, Southern blot, whole-exome/genome sequencing–based approaches) combined with cross-sectional and longitudinal deep phenotyping in (1) cross-European cohort A (70 families) with ≥2 features of CANVAS or ataxia with chronic cough (ACC) and (2) Turkish cohort B (105 families) with unselected late-onset ataxia. Results Prevalence of RFC1 disease was 67% in cohort A, 14% in unselected cohort B, 68% in clinical CANVAS, and 100% in ACC. RFC1 disease was also identified in Western and Eastern Asian individuals and even by whole-exome sequencing. Visual compensation, sensory symptoms, and cough were strong positive discriminative predictors (>90%) against RFC1-negative patients. The phenotype across 70 RFC1-positive patients was mostly multisystemic (69%), including dysautonomia (62%) and bradykinesia (28%) (overlap with cerebellar-type multiple system atrophy [MSA-C]), postural instability (49%), slow vertical saccades (17%), and chorea or dystonia (11%). Ataxia progression was ≈1.3 Scale for the Assessment and Rating of Ataxia points per year (32 cross-sectional, 17 longitudinal assessments, follow-up ≤9 years [mean 3.1 years]) but also included early falls, variable nonlinear phases of MSA-C–like progression (SARA points 2.5–5.5 per year), and premature death. Treatment trials require 330 (1-year trial) and 132 (2-year trial) patients in total to detect 50% reduced progression. Conclusions RFC1 disease is frequent and occurs across continents, with CANVAS and ACC as highly diagnostic phenotypes yet as variable, overlapping clusters along a continuous multisystemic disease spectrum, including MSA-C-overlap. Our natural history data help to inform future RFC1 treatment trials. Classification of Evidence This study provides Class II evidence that RFC1 repeat expansions are associated with CANVAS and ACC.

In the present study, we focused on investigating the contribution of functional dopamine D2 and D3 receptor variants to motor and/or non-motor symptoms of early onset Parkinson's disease (EOPD). Three functional single nucleotide polymorphisms (SNPs), DRD3 rs6280, DRD2 rs2283265 and DRD2 rs1076560, were genotyped in 128 Turkish EOPD patients and then, statistical analysis was conducted for the potential impacts of SNPs on clinical parameters. All three SNPs were found to be statistically significant in terms of PD-related pain: DRD3 [rs6280; risk allele "T" for pain; p = 0.031; odds ratio (OR)=4.25], DRD2 [rs2283265; risk allele "A" for pain; p = 0.001; OR=8.47] and, DRD2 [rs1076560; risk allele "A" for pain; p = 0.022; OR=4.58]. Additionally, bilateral disease [p = 0.011; OR=5.10] and gender [risk group "female"; p = 0.003; OR=8.53] were also identified as significant univariate risk factors for PD-related pain. Based on logistic regression analysis conducted with the significant univariate risk factors, this the first report to clarify that a female patient with bilateral PD and DRD2 rs2283265 polymorphism has a significant risk for PD-related pain. Our findings might contribute to improve life quality by offering treatment options for pain in PD patients with these clinical and genetic features.

Objective In this study, quality of life and psychiatric comorbid disorders were investigated in patients with cervical dystonia and their spouses and we also investigated the effect of botulinum toxin (BTX) treatment on these parameters. Material and method Thirty patients with cervical dystonia (CD) on BTX treatment and their spouses (n=30) were included. Beck Depression Scale (BDS), State-Trait Anxiety Inventory I and II (STAI-I, STAI-II), Hospital Anxiety Scale (HAS), Hospital Depression Scale (HDS) for psychiatric comorbid disease assessment, Toronto Western Spasmodic Torticollis Scale (TWSTRS) for disease activity assessment, and Craniocervical Dystonia Questionnaire (CDQ-24), Cervical Dystonia Impact Profile (CDIP-58), and Short Form 36 (SF-36) questionnaires for quality of life assessment were used. BDS, STAI-I and STAI-II, HAS, HDS, and SF-36 scales were also obtained from the spouses. The same tests were applied both before and 8weeks after the BTX treatment. Conclusion In our study, an increase in psychiatric comorbid disorders such as depression and anxiety was observed and the quality of life was adversely affected in all areas in patients. In the spouses of the patients, the rates of psychiatric comorbid disorders such as depression and anxiety were found to be increased when compared to healthy subjects while vitality, mental health, and general health perception were found to be negatively affected. Patients showed improvements in anxiety level, disease activity, and overall quality of life scales after BTX treatment.

Susac's Syndrome (SS), which was first described in 1979, is a rare and presumably autoimmune disorder characterized by encephalopathy, hearing loss, and visual disturbance resulting from branch retinal artery occlusion (BRAO). This study reports 19 SS patients' clinical characteristics, MRI features, CSF analysis, treatment strategies and outcomes. At initial presentation, only three of 19 patients demonstrated the complete clinical triad. Clinic presentation varied from isolated hemiparesis to the full triad (encephalopathy, hearing loss and visual disturbances). Corpus callosum (CC) involvement was noted in the MRI of 18 patients (97%) and BRAO was detected in 17 (95%) patients. All patients were treated with intravenous methylprednisolone after the initial assessment. This case series is presented to emphasize the differences in clinical presentation of SS and the importance of MRI and FFA in diagnosis.

Background: Movement Disorders Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS) and Unified Dyskinesia Rating Scale (UDysRS) were developed as standard tools to rate Parkinson's 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. Methods: The scales were translated into Turkish and then back-translated to English. These back-translations were reviewed by the MDS team. After cognitive pretesting, movement disorder specialists from nine centers tested 352 patients for MDS-UPDRS, and 250 patients for UDysRS. Confirmatory factor analyses (CFAs) were used to determine if the factor structures for the reference standards could be confirmed in the Turkish data. The comparative fit indexes (CFIs) for the scales were required to be 0.90 or higher. Exploratory factor analyses (EFAs) were conducted to explore the underlying factor structure without the constraint of a pre-specified factor structure. Results: For both scales, the CFIs were 0.94 or greater as compared to the reference standard factor structures. The factor structures were consistent with that of reference standards, although there were some differences in some areas as compared to the EFA of the reference standard dataset. This may be due to the inclusion of patients with different stages of PD and different cultural properties of raters and patients. Conclusions: These results demonstrate that the Turkish translations of MDS-UPDRS and UDysRS have adequate clinimetric properties. They are established as the official translations and can be reliably used in Turkish speaking populations.

Aim/Background: Restless legs syndrome (RLS) is a frequent neurological and sleep disorder. Metabolic disorders are known to be related to sleep disorders. We prospectively evaluated whether obesity and its possible cofactors were related to the presence of RLS. Materials and Methods: The study included 143 obese and 94 non-obese individuals. Obese patients had a BMI of 30 and over, while non-obese patients had a BMI lower than 30. Patients with arthritis and pregnancy were excluded but not those with diabetes mellitus. Participants who met diagnostic criteria recommended by the International RLS Study Group were diagnosed as having RLS. Depression, anxiety, daytime sleepiness, insomnia and sleep quality were evaluated in detail. Results: The mean age of obese patients was 40.52years and that of non-obese patients was 39.76years. The mean body mass index was 36.77 in the obese group and 25.71 in the non-obese group. The occurrence of depression, anxiety, sleep quality, and insomnia scores were significantly higher in obese individuals. The evaluations of daytime sleepiness, sleep efficiency and sleep latency were not significantly different between the groups. Discussion: Although the presence of RLS was correlated with obesity and vascular risk factors at a significant level, it was also shown that depression, anxiety and insomnia were significantly frequent in obese patients (although not daytime sleepiness). Further studies are needed.

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.

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. (C) 2016 Elsevier B.V. All rights reserved.

Encephalitis associated with leucine-rich glioma inactivated 1 (LGI1) antibodies is often encountered in elderly male patients and may infrequently present with isolated syndromes. A 6-year-old boy was admitted with acute onset severe oral and facial stereotypic and choreiform movements. On his neurologic examination, he had repetitive and rhythmic movements in orolingual muscles including tongue protrusion, limb chorea and minimal facial stereotypic movements. Anti-streptolysin O (ASO) titers were found severely elevated in several measurements. Well-characterized antibodies against ion channels and synapse proteins were negative whereas LGI1 antibody was positive in both serum and CSF. Marked clinical improvement was observed after immunotherapy. Here, we present the first pediatric case with LGI1 antibody associated hyperkinetic movement disorders and emphasize the importance of investigating neuronal autoantibodies in patients with isolated and treatment resistant movement disorders.

Superfisial siderozis, (SS) nadir gorulen, kronik yada tekrarlayan subaraknoid kanamalar nedeniyle beyin ve spinal kordun subpial tabakala-rinda hemosiderin birikimi ile sonuclanan progresif norotoksik bir hastaliktir. Biz bu sunumda, literaturu gozden gecirerek, SS tanisi koydugumuz iki olguyu sunmayi amacladik. Her iki olguda progresif serebellar ataksi, bilateral sensorinoral isitme kaybu ile prezente oldu. Iki olguda SS tanisi kraniyal ve spinal kord Magnetik Rezonans (MR) goruntuleme ile kondu, ikinci olguda BOS'ta artmis demir ve ferritin duzeyleri ile tani konfirme edildi. Superfisial sideroziste klinik bulgu olarak, progresif serebellar ataksi, dizartri, sensorinoral isitme kaybi, demans, mesane disfonksiyonu, kraniyal noropatiler veya miyelopatiler gorulebilir. Bu sunumda amacimiz, ataksi, isitme kaybi yada demansi olan olgularda ayirici tanida SS'in dusunulmesi gerektigini ve MR'in tani koymada onemini vurgulamaktir.

Superficial siderosis (SS) is a rare, progressive neurotoxic disease caused by chronic or repeated subarachnoid hemorrhages, leading to hemosiderin deposition in the subpial layers of the brain and spinal cord. We aim to present two SS cases and review the literature. Both cases presented with progressive serebellar ataxia, bilateral sensorineural hearing loss. The diagnosis of SS was made by Magnetic Resonance Imaging (MRI) of the cranial and spinal cord in two cases and diagnosis of second case was confirmed by increased iron and ferritin level in the CSF. Clinical features of SS include progressive cerebellar, ataxia, dysarthria, sensorineural hearing loss, dementia, bladder disturbance, cranial neuropathy or myelopathy. Aim of our presentation is to emphasize that SS should be thought as a differential diagnosis in patient with ataxia, hearing loss or dementia and is to point out the importance of MR to diagnose of SS.