Hatice Balaban

Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype

BackgroundKlippel-Feil syndrome (KFS) is characterized by the developmental failure of the cervical spine and has two dominantly inherited subtypes. Affected individuals who are the children of a consanguineous marriage are extremely rare in the medical literature, but the gene responsible for this recessive trait subtype of KFS has recently been reported.ResultsWe identified a family with the KFS phenotype in which their parents have a consanguineous marriage. Radiological examinations revealed that they carry fusion defects and numerical abnormalities in the cervical spine, scoliosis, malformations of the cranial base, and Sprengel’s deformity. We applied whole genome linkage and whole-exome sequencing analysis to identify the chromosomal locus and gene mutated in this family. Whole genome linkage analysis revealed a significant linkage to chromosome 17q12-q33 with a LOD score of 4.2. Exome sequencing identified the G > A p.Q84X mutation in the MEOX1 gene, which is segregated based on pedigree status. Homozygous MEOX1 mutations have reportedly caused a similar phenotype in knockout mice.ConclusionsHere, we report a truncating mutation in the MEOX1 gene in a KFS family with an autosomal recessive trait. Together with another recently reported study and the knockout mouse model, our results suggest that mutations in MEOX1 cause a recessive KFS phenotype in humans.

Serum 25-hydroxyvitamin D levels in restless legs syndrome patients

OBJECTIVE Restless legs syndrome is characterised by discomfort during rest and an urge to move the limbs that is accompanied by abnormal sensations. Studies on disease pathophysiology have focused on dopaminergic dysfunction. Vitamin D may play an important role in dopamine function, but the role of vitamin D in restless legs syndrome has not been examined. We compared the serum vitamin D levels of RLS patients and matched controls and explored the correlation of plasma vitamin D levels with disease severity. PATIENTS/METHODS We measured serum 25-hydroxyvitamin D levels in 36 patients with restless legs syndrome and compared them to 38 healthy control subjects. RESULTS The mean serum 25-hydroxyvitamin D levels were 7.31±4.63 ng/mL in female patients with restless legs syndrome and 12.31±5.27 ng/mL in female control subjects (p=0.001). We found a significant inverse correlation between vitamin D levels and disease severity in females (p=0.01, r=-0.47). CONCLUSION The mean serum vitamin D levels were lower in female patients with restless legs syndrome. Low vitamin D levels may cause dopaminergic dysfunction in restless legs syndrome patients. Further studies are required to confirm these results.

Mutation in the HTRA1 gene in a patient with degenerated spine as a component of CARASIL syndrome.

AIM To show the mutation in HTRA1 gene in a patient suffering from CARASIL syndrome with degenerated spine as a component of the disease. MATERIAL AND METHODS We identified a family that one of the members had CARASIL syndrome in eastern Turkey and collected venous blood from available persons. The HTRA1 gene sequenced in all family members. RESULTS C to T transition at position 1108 (c.1108 C > T) in exon 6, causing stop codon formation (R370X) was seen in the HTRA1 gene in a homozygous state in the CARASIL patient whereas it was heterozygous in other healthy family members. CONCLUSION We demonstrated homozygous c.1108 C > T mutation in the HTRA1 gene causing a very rare syndrome, especially in the non- Japanese population, called CARASIL. Patients with degenerated spine and progressive clinical symptoms must be evaluated or reevaluated for other central nervous system symptoms and signs to rule out other diseases or syndromes.

A Novel Locus for Restless Legs Syndrome on Chromosome 13q

Background: Restless legs syndrome (RLS) is a sensorimotor disorder in which affected individuals suffer from uncomfortable sensations and an urge to move their lower limbs; it occurs mainly in resting situations during the evening or at night. Multiple chromosomal loci have been mapped for RLS through family-based linkage analysis, and genome-wide association studies but causative mutations have not been identified yet. Method: We identified an RLS family from the eastern part of central Turkey which has 10 patients suffering from this syndrome. Whole genome linkage analysis was performed in family members who consented for study (9 affected and 2 unaffected). Results: A theoretical maximum logarithm of the odds score of 3.29 was identified at chromosome 13q32.3–33.2. This result shows strong genetic linkage to this locus. Conclusions: We demonstrated a genetic linkage at chromosome 13 in a RLS family. Further investigation in this linkage area may reveal a causative gene leading to RLS phenotype and may illuminate the pathogenesis of this disease. This study supports the genetic heterogeneity in the pathogenesis of this syndrome.

Isolated Cortical Vein Thrombosis After Epidural Anesthesia: Report of Three Cases

ABSTRACT Cerebral venous thrombosis rarely develops after lumbar puncture and spinal anesthesia with accidental dural puncture, however, occurrence of isolated cortical vein thrombosis after epidural anesthesia is extremely rare. We report three cases who developed postural headache and isolated cortical vein thrombosis after epidural anesthesia. We postulate that intracranial hypotension is the cause of compensatory venous dilatation and resultant thrombosis.

Prevalence of migraine and co-morbid psychiatric disorders among students of Cumhuriyet University

BackroundThe aim of this study was to investigate the prevalence of migraine and associated psychiatric disorders among university students at Cumhuriyet University of Sivas in Turkey.MethodsA total of 1601 university students participated in this study and answered the questionnaires. The study was conducted in three stages: the self-questionnaire, the neurological evaluation, and the psychiatric evaluation. In the first stage, the subjects completed a questionnaire to assess migraine symptoms. In the second stage, the subjects who reported having migraines underwent a detailed neurological evaluation conducted by a neurologist to confirm the diagnosis. In the final stage, the subjects with migraines completed a psychiatric examination using the structured clinical interview for DSM IV-R Axis I.ResultsThe self-reported migraine prevalence rate was 13.7%, and the actual prevalence rate of migraine among the university students was calculated to be 10.6% (n = 169). When the results obtained with the SCID-I were examined, a current SCID-I psychiatric diagnosis was found in 39 (23.1%) of the 169 subjects with migraines. A total of 73 (43.2%) students with migraines had a lifetime SCID-I psychiatric diagnosis.ConclusionsThe results of this study indicate that migraines were highly prevalent among university students in Turkey with comorbid psychiatric disorders. Treatment strategies must be developed to manage these comorbidities.

Acute lumbosacral polyradiculoneuropathy heralding transformation to systemic lupus erythematosus in a patient with discoid lupus

Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disease with which a variety of neuropathic disorders have been associated. Among these, the acute inflammatory demyelinating polyradiculoneuropathy variant of Guillain–Barré syndrome has been well established. However, acute axonal lumbosacral polyradiculoneuropathy accompanied by albuminocytological dissociation in the cerebrospinal fluid has been extremely rarely reported in SLE. We report on a 47-year-old woman with discoid lupus presenting with acute onset of flaccid paraplegia. Extensive investigations suggested the diagnoses of axonal lumbosacral polyradiculoneuropathy and SLE. Treatment with intravenous methylprednisolone and cyclophosphamide resulted in clinical recovery. Development of immune-mediated polyneuropathy in a patient with discoid lupus should forewarn the clinician regarding transformation into the systemic form of the disease.

The role of event-related potentials in subclinical cognitive dysfunction in essential tremor.

Summary Several studies have reported that patients with essential tremor (ET) may also have mild cognitive impairment. Event-related potentials (ERPs) involve cognitive processes in the brain. No detailed investigation has been conducted into auditory ERPs (AERPs) to detect the subclinical cognitive dysfunction in patients with ET. Therefore, this study aimed to clarify the usefulness of AERPs in ET-related cognitive impairment. The AERPs were obtained by using an oddball paradigm in 27 patients with ET and 27 age-matched control subjects. The mean latency and amplitude of the ERPs were compared between the two groups. The correlation between disease duration and the mean values of all components of the potentials was assessed. The association between tremor severity and potentials was also evaluated. The patients with ET showed significant prolongation of all components of the ERP latencies at each electrode site. The N200 and P300 amplitudes were reduced in the ET group. Interestingly, the significant prolongation of N100 and N200 latencies correlated with disease duration, and N200 latencies appeared significantly longer in patients with severe tremor. Significant differences were found between the components of the AERPs and tremor severity and disease duration. This finding implies that ERPs may be useful in evaluating the cognitive functions in ET and that those AERP abnormalities may appear before clinical presentation.

A database for screening and registering late onset Pompe disease in Turkey

The aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a collaborative study of neurologists working throughout Turkey. Included in the study were 350 patients older than 18 years who have a myopathic syndrome without a proven diagnosis by serum creatine kinase (CK) levels, electrodiagnostic studies, and/or muscle pathology, and/or genetic tests for myopathies other than LOPD. Acid alpha glucosidase (GAA) in dried blood spot was measured in each patient at two different university laboratories. LOPD was confirmed by mutation analysis in patients with decreased GAA levels from either both or one of the laboratories. Pre-diagnostic data, recorded by 45 investigators from 32 centers on 350 patients revealed low GAA levels in a total of 21 patients; from both laboratories in 6 and from either one of the laboratories in 15. Among them, genetic testing proved LOPD in 3 of 6 patients and 1 of 15 patients with decreased GAA levels from both or one of the laboratories respectively. Registry was transferred to Turkish Neurological Association after completion of the study for possible future use and development. Our collaborative study enabled collection of a considerable amount of data on the registry in a short time. GAA levels by dried blood spot even from two different laboratories in the same patient may not prove LOPD. LOPD seemed to be rarer in Turkey than in Europe.

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.