The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.

BACKGROUND: 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 identify the prevalence and genetic structure of hereditary ataxias in the Turkish population. METHODS: Our cohort consisted of 1296 index cases and 324 affected family members. Polymerase chain reaction followed by Sanger sequencing or fragment analysis were performed to screen for the trinucleotide repeat expansions in families with a dominant inheritance pattern, as well as in sporadic cases. The expansion in the frataxin (FXN) gene was tested in all autosomal recessive cases and in sporadic cases with a compatible phenotype. Whole-exome sequencing was applied to 251 probands, selected based on the family history, age of onset, and phenotype. RESULTS: Mutations in known ataxia genes were identified in 30% of 1296 probands. Friedreich's ataxia was found to be the most common recessive ataxia in Turkey, followed by autosomal recessive spastic ataxia of Charlevoix-Saguenay. Spinocerebellar ataxia types 2 and 1 were the most common dominant ataxias. Whole-exome sequencing was performed in 251 probands with an approximate diagnostic yield of 50%. Forty-eight novel variants were found in a plethora of genes, suggesting a high heterogeneity. Variants of unknown significance were discussed in light of clinical data. CONCLUSION: With the large sample size recruited across the country, we consider that our results provide an accurate picture of the frequency of hereditary ataxias in Turkey. © 2021 International Parkinson and Movement Disorder Society.

Multicenter study of levodopa carbidopa intestinal gel in Parkinson's disease: the Turkish experience

Background/aim: Our purpose was to determine the efficacy of levodopa carbidopa intestinal gel (LCIG) in a series of Turkish patients with Parkinson's disease (PD). Materials and methods: We had telephone calls with 54 patients from 11 neurology centers who were on LCIG treatment, and 44 patients or their caregivers were included in an eight-item survey between September 2015 and June 2016. The reliability and validity of the survey were evaluated with intraclass correlation coefficients for every question separately. Results: Average age of the patients were 63.48 and the duration of PD was 12.79 years. Average LCIG treatment period was 15.63 months. Percentages of the patients who reported they were 'better' after LCIG treatment were as follows: 80% for time spent off, 55% for dyskinesia, 65% for tremor, 85% for gait disorder, 50% for pain, 50% for sleep disorders, 42.5% for depression, 32.5% for incontinence, and 70% for activities of daily living. Cronbach's alpha was 0.795 and the intraclass correlation coefficient was reliable for the items. Conclusion: As detected by a survey performed by telephone calls with good interrater reliability, patients with PD improve with LCIG treatment in many aspects of the disease.

Risk assessment of obstructive sleep apnea syndrome and other sleep disorders in multiple sclerosis patients.

BACKGROUND: The aim of the present study was to determine the possible risk of OSAS in patients with MS through the STOP-BANG questionnaire, and to confirm the pre-diagnosis of OSAS by recording polysomnographic investigation in individuals with high risk. In addition, the relationship between OSAS risk and fatigue, sleepiness, depression, and disability status will be examined. METHODS: Totally 97 patients with multiple sclerosis including 36 males and 61 females with an age average of 39.92 ± 9.11 years. All participants completed the following questionnaires: STOP-Bang, Fatigue Severity Scale (FSS), Epworth sleepiness scale (ESS), Beck Depression Inventory (BDI); disability status of the participants was assessed by Expanded Disability Status Scale (EDSS). Polysomnographic sleep record was applied to the patients with high risk of OSAS according to STOP-BANG test scores. RESULTS: The STOP_BANG questionnaire revealed that 24.7% of the patients were screened as high risk for OSA. Approximately 11.3% of the patients were detected positive for OSAS based on PSG recording. Comparison of MS patients with high risk of OSA with others suggested a significant difference in terms of the age (p = 0.01). ESS positive scores were significantly correlated with positive STOP BANG outcomes (p < 0.001). ESS positive scores were negatively correlated with positive PSG outcomes. CONCLUSION: The prevalence of OSAS in MS patients based on questionnaire and PSG was found consistent with literature. Similar to the general population, increasing age was found as a risk factor for OSAS in patients with MS. STOP-BANG test may not be an adequate test to diagnose OSAS, especially in MS patients with high fatigue scores.

[Social phobia in essential tremor]. / Essansiyel Tremorda Sosyal Fobi.

OBJECTIVES: This study is aimed to determine the frequency of social phobia among a group of subjects with essential tremor, to compare subject groups with and without social phobia with regard to the level of social phobia and disability, and to study the effect of the severity of social phobia on disability in essential tremor. METHOD: 45 subjects, diagnosed with essential tremor were included in the study, and their severity of tremor and essential tremor-related functional impairment were determined. Subjects were evaluated in 2 groups; those with a social phobia diagnosis and those without, as determined with the SCID-I interview. Additionally, the Liebowitz Social Anxiety Scale (LSAS) and the Sheehan Disability Scale (SDS) were administered to both groups and the findings were statistically compared. RESULTS: Social phobia was observed in 19 subjects (42.2%) with essential tremor. While no difference was found between the groups in terms of tremor severity scores, the mean score of tremor-related functional disability in the social phobia group was found to be higher. Among subjects with social phobia, the mean fear and avoidance scores on LSAS were higher, whereas social lives and leisure activities of the same group were observed to have been affected more, according to SDS scores. Social avoidance and tremor severity were predictive for the difference on SDS. A significant and positive correlation between fear and avoidance, and disability in the group with social phobia was established. CONCLUSION: It was concluded that essential tremor patients diagnosed with social phobia demonstrated higher social anxiety and disability compared to those without social phobia, and that social avoidance contributed to disability. Identifying social phobia in essential tremor patients and diagnosing these patients with social phobia, contrary to DSM's restrictive approach, would be appropriate and beneficial in terms of providing sufficient treatment.