Aysel Milanlioglu

GM2 Gangliosidosis in Saudi Arabia: Multiple Mutations and Considerations for Future Carrier Screening

The GM2 gangliosidose, Tay–Sachs and Sandhoff diseases, are a class of lysosomal storage diseases in which relentless neurodegeneration results in devastating neurological disability and premature death. Primary prevention is the most effective intervention since no effective therapy is currently available. An extremely successful model for the prevention of GM2 gangliosidosis in the Ashkenazi Jewish community is largely attributable to the very limited number of founder mutations in that population. Consistent with our previous observation of allelic heterogeneity in consanguineous populations, we show here that these diseases are largely caused by private mutations which present a major obstacle in replicating the Ashkenazi success story. Alternative solutions are proposed which can also be implemented for other autosomal recessive diseases in our population.

A Multicenter Study of 1144 Patients with Cerebral Venous Thrombosis: The VENOST Study

BACKGROUND Based on a number of small observational studies, cerebral venous sinus thrombosis has diverse clinical and imaging features, risk factors, and variable outcome. In a large, multicenter cerebral venous thrombosis (VENOST) study, we sought to more precisely characterize the clinical characteristics of Caucasian patients. METHODS All data for the VENOST study were collected between the years 2000 and 2015 from the clinical follow-up files. Clinical and radiological characteristics, risk factors, and outcomes were compared in terms of age and sex distribution. RESULTS Among 1144 patients 68% were women, and in older age group (>50 years) male patients were more prevalent (16.6% versus 27.8%). The most frequent symptoms were headache (89.4%) and visual field defects (28.9%) in men, and headache (86.1%) and epileptic seizures (26.8%) in women. Gynecological factors comprised the largest group in women, in particular puerperium (18.3%). Prothrombotic conditions (26.4%), mainly methylenetetrahydrofolate reductase mutation (6.3%) and Factor V Leiden mutation (5.1%), were the most common etiologies in both genders. 8.1% of patients had infection-associated and 5.2% had malignancy-related etiology that was significantly higher in men and older age group. Parenchymal involvement constitutively hemorrhagic infarcts, malignancy, and older age was associated with higher Rankin score. Epileptic seizures had no effect on prognosis. CONCLUSIONS Clinical and radiological findings were consistent with previous larger studies but predisposing factors were different with a higher incidence of puerperium. Oral contraceptive use was not a prevalent risk factor in our cohort. Malignancy, older age, and hemorrhagic infarcts had worse outcome.

Coping strategies and mood profiles in patients with multiple sclerosis

OBJECTIVE The aim of the present study was to investigate the coping strategies, mood characteristics and the association between these aspects in patients diagnosed with multiple sclerosis and healthy subjects. METHOD Fifty consecutive patients who were diagnosed with multiple sclerosis according to McDonald criteria and thirty-one healthy subjects were included in the study. In addition to the sociodemographic form, Expanded Disability Status Scale (EDSS), Coping Orientation for Problem Experiences Scale (COPE), and Profile of Mood States (POMS) tests were applied to the participants. RESULTS Non-functional coping strategies were significantly higher in the secondary-progressive type (p≤0.05). Depression-dejection, fatigue-inertia and total POMS scores were significantly higher in the secondary-progressive type (p≤0.05). CONCLUSION The results of our study demonstrate the importance of rehabilitation programs that encourage exercise among patients with multiple sclerosis to increase vigor-activity levels.

Ischemic Bilateral Opercular Syndrome

Opercular syndrome, also known as Foix-Chavany-Marie syndrome, is a paralysis of the facial, pharyngeal, masticatory, tongue, laryngeal, and brachial muscles. It is a rare cortical form of pseudobulbar palsies caused by vascular insults to bilateral operculum. Its clinical presentations include anarthria, weakness of voluntary muscles involving face, tongue, pharynx, larynx, and masticatory muscles. However, autonomic reflexes and emotional activities of these structures are preserved. In the present case, an 81-year-old male presented with acute onset of anarthria with difficulties in chewing, speaking, and swallowing that was diagnosed with opercular syndrome.

Relations between mood characteristics, circadian preferences, and functionality in multiple sclerosis

Abstract Objective. Multiple sclerosis (MS) is a progressive disorder that results in demyelinization of the nerve fibers of the central nervous system. We aimed to determine chronobiological and mood features in patients with MS. Methods. The sample comprised 75 patients with MS (54 women and 21 men) and 50 healthy individuals (38 women and 12 men). Sixty-three patients were relapsing–remitting MS and twelve patients had secondary progressive-type MS. Mood characteristics were assessed using subscales of the Profile of Mood States (POMS). Chronotypical characteristics were determined by the Morningness–Eveningness Questionnaire (MEQ). Univariate and structural equation modeling was applied to untangle the possible connections between variables. Results. Both relapsing–remitting and secondary progressive patients scored higher on the depression–dejection and fatigue–inertia scales of the POMS than healthy individuals. Circadian preferences did not differ significantly between these groups. Patients using glatiramer acetate and other types of drugs had greater severity of functional impairment measured relative to interferon-beta treatment group. Glatiramer acetate had more negative effects on mood than interferon-beta therapy. This finding may be the result of significantly higher duration of disease and higher symptom severity scores in glatiramer acetate group. Conclusions. In the structural equation model, gender was found to be predictive for characteristics of mood.

Dissociative experiences in patients with epilepsy

A few studies have explored dissociative experiences in epilepsy patients. We investigated dissociative experiences in patients with epilepsy using the dissociative experiences scale (DES). Ninety-eight patients with epilepsy and sixty healthy controls were enrolled in this study. A sociodemographic questionnaire and the Dissociative Experiences Scale (DES), Beck Depression Inventory (BDI) and Beck Anxiety Inventory (BAI) were administered to the participants. The DES scores were significantly higher for the patients with epilepsy than the healthy individuals. The number of individuals with pathological dissociation (DES ≥ 30) was higher in the epilepsy group (n = 28) than in the control group (n = 8). Also, higher levels of dissociation were significantly associated with frequency of seizures, but were not associated with duration of epilepsy and age at onset of the disorder. These findings demonstrate that patients with epilepsy are more prone to dissociation than controls. The high rate of dissociative experiences among patients with epilepsy suggest that some epilepsy-related factors are present.

Anti-CCP Antibody Levels Are Not Associated with MS: Results from a Case-Control Study

Citrullinated proteins have been suggested to play a critical role in the pathogenesis of multiple sclerosis (MS). Anticyclic citrullinated peptide (anti-CCP) antibody is used in the early diagnosis of rheumatoid arthritis (RA). The objective of this study was to investigate the presence of anti-CCP antibody in patients with MS compared to RA patients and healthy controls. Fifty patients with MS (38 females, 12 males; mean age 36.72 ± 8.82 years), 52 patients with RA (40 females, 12 males; mean age 40.87 ± 10.17 years), and 50 healthy controls (32 females, 18 males; mean age 38.22 ± 11.59 years) were included in this study. The levels of serum anti-CCP antibody were measured using an enzyme-linked immunosorbent assay (ELISA). The results of the study showed that anti-CCP antibody levels were significantly higher in RA patients versus MS or healthy controls (P < 0.001). Moreover, anti-CCP antibody was positive in 43 (83%) patients with RA, while it was negative in all MS patients as well as in all healthy controls. Also, no significant correlation was found between the anti-CCP levels and EDSS scores (r = −0.250). In conclusion, the results of this study did not support a positive association between serum anti-CCP antibody and MS.

Hot Water Epilepsy in a Pregnant Woman: A Case Report

Hot water epilepsy is a unique form of reflex epilepsy precipitated by the stimulus of bathing with hot water poured over the head. It is mostly seen in infants and children, with a predominance in males. Unlikely, we present a 32-year-old pregnancy woman with the incipient of reflex seizures triggered by pouring hot water over the head while having a bath during the gestation period and treated successfully with carbamazepine 400 mg/day therapy. Hot water epilepsy is known as a benign and self-limited reflex epilepsy, by firstly avoiding hot water or long showers and secondly using intermittent benzodiazepines or conventional antiepileptic drugs, may be sufficient to be seizure-free.

Behçet’s disease as a causative factor of cerebral venous sinus thrombosis: subgroup analysis of data from the VENOST study

OBJECTIVE This study was performed to determine the rate of cerebral venous sinus thrombosis (CVST) among cases of Behçets disease (BD) included in a multicentre study of cerebral venous sinus thrombosis (VENOST). METHODS VENOST was a retrospective and prospective national multicentre observational study that included 1144 patients with CVST. The patients were classified according to aetiologic factors, time of CVST symptom onset, sinus involvement, treatment approach and prognosis. RESULTS BD was shown to be a causative factor of CVST in 108 (9.4%) of 1144 patients. The mean age of patients in the BD group was 35.27 years and 68.5% were men, whereas in the non-BD CVST group, the mean age was 40.57 years and 28.3% were men (P < 0.001). Among the aetiologic factors for patients aged 18-36 years, BD was predominant for men, and puerperium was predominant for women. The onset of symptoms in the BD group was consistent with the subacute form. The transverse sinuses were the most common sites of thrombosis, followed by the superior sagittal sinuses. The most common symptom was headache (96.2%), followed by visual field defects (38%). CONCLUSIONS BD was found in 9.4% of patients in our VENOST series. Patients with BD were younger and showed a male predominance. The functional outcome of CVST in patients with BD was good; only 12% of patients presenting with cranial nerve involvement and altered consciousness at the beginning had a poor outcome (modified Rankin Score ⩾2).

Effects of omalizumab therapy on peripheral nerve functions: short observational study

Introduction Peripheral neuropathy (PN) is a common neurological condition causing symmetrical and diffuse damage in nerves. The etiology of PN includes systemic diseases, toxic exposure, medications, infections, and hereditary diseases. Omalizumab is a humanized monoclonal anti-IgE antibody that exerts its activity by binding to free IgE in circulation. Aim To investigate the relationship between omalizumab and peripheral neuropathy. Material and methods The study included 30 patients who underwent omalizumab therapy (Xolair) due to the diagnosis of chronic urticaria. A detailed neurological and physical examination was performed in each patient both before and 3 months after the therapy. Electrophysiological examination was also performed using a Medelec Synergy instrument. Results The 30 patients included 8 (26.7%) men and 22 (73.3%) women with a mean age of 37.5 ±14.14 years. No serious side effect of the medication was detected in any patient although local wound irritation occurred in 3 (10%) patients. Moreover, no change occurred in the pre-treatment Neuropathy Symptom Score (NSS) or Neurological Disability Score (NDS) of the patients and no pathological values that could result in neuropathy were observed during motor/sensory nerve conduction. However, significant changes were detected in the sensory and motor components of the nerves with regards to pre- and post-treatment values. Conclusions Omalizumab therapy caused no peripheral neuropathy in any of our patients but altered the latency, amplitude, and velocity values of the peripheral nerves.