The frequency of amyotrophic lateral sclerosis (ALS) mutations has been extensively investigated in several populations; however, a systematic analysis in Turkish cases has not been reported so far. In this study, we screened 477 ALS patients for mutations, including 116 familial ALS patients from 82 families and 361 sporadic ALS (sALS) cases. Patients were genotyped for C9orf72 (18.3%), SOD1 (12.2%), FUS (5%), TARDBP (3.7%), and UBQLN2 (2.4%) gene mutations, which together account for approximately 40% of familial ALS in Turkey. No SOD1 mutations were detected in sALS patients; however, C9orf72 (3.1%) and UBQLN2 (0.6%) explained 3.7% of sALS in the population. Exome sequencing revealed mutations in OPTN, SPG11, DJ1, PLEKHG5, SYNE1, TRPM7, and SQSTM1 genes, many of them novel. The spectrum of mutations reflect both the distinct genetic background and the heterogeneous nature of the Turkish ALS population.
Acne is the most common skin disease, and isotretinoin is the most powerful drug among the various drugs used for its treatment. A causal relationship has not yet been established between isotretinoin use and depression. The aim of this study is to research the effect of isotretinoin treatment on depression in a group of patients undergoing isotretinoin therapy. Behavioral tests measuring anxiety and depression, and the measures assessing acne severity and quality of life were applied to 112 acne patients consulted at Dermatology Clinic of Beyazit Medico Social Center of Istanbul University. In this study, 72 acne patients (61 females and 11 males) were evaluated. A significant decrease was observed in HAD‐D, GAGS, and CADI scores at the end of the therapy. There was no significant relationship between patients' depression history and HAD‐D scores at the end of first month of therapy and at the end of treatment. Although the psychiatrists are concerned about the potential psychiatric side effects of isotretinoin, our data support no causal relationship between isotretinoin use and depression in acne patients.
We observed abnormal involuntary movements, involving principally the facial and neck muscles, in 23 patients with stuttering. These movements were similar to involuntary movements seen in distinct dystonic syndromes. There was a history of stuttering in the first degree relatives of six patients. The association of stuttering with degenerative neurologic disorders and focal brain lesions, cerebral blood flow changes in patients with developmental stuttering, its occurrence as a side effect of centrally acting drugs, induction and alleviation of stuttering by mechanical perturbation, or by electrical stimulation of the thalamus, a strong genetic predisposition with male preponderance, and the statistically significant occurrence of stuttering in the family history of patients with idiopathic torsion dystonia suggest an organic basis for developmental stuttering. These findings and the reported similarities between the involuntary movements associated with stuttering and dystonic involuntary movements support the hypothesis that stuttering is a form of segmental or focal action dystonia.
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