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Background/aim: Spinocerebellar ataxias (SCAs) are complex clinical and genetically heterogeneous, mostly autosomal dominant neurodegenerative diseases. At present, more than 30 hereditary SCA types have been associated with different gene mutations. In this study, the frequency distribution of the 6 SCA types 1, 2, 3, 6, 7, and 17 in the Turkish population was investigated with respect to clinical features. Materials and methods: 159 patients who received a diagnosis of SCA and 42 healthy controls from Adana, Mersin, Gaziantep, Hatay, and Osmaniye provinces were included in the study. DNA samples were isolated from 2 mL blood samples and the number of trinucleotide repeats (TNRs) for each SCA type was detected using PCR-RFLP technique and sequencing. Results: Of the 6 SCA types that were studied, 4 types, SCA 1, 3, 7, and 17, were positive and all heterozygous for expansions. SCA types 1 and 17 had higher frequencies, 4.4% and 3.8%, respectively, than SCA types 3 and 7. The clinical data of patients were also evaluated to correlate with the increased TNR numbers. Conclusion: This study, being the first mutation record of SCAs in this area, indicated that 9.4% of cases belonged to 4 types, SCA 1, 3, 7, and 17. [ABSTRACT FROM AUTHOR]

This article presents two patients who were admitted by the complaints of progressive generalized myoclonic seizures, and who were diagnosed by Lafora body disease (LD) after investigation of the etiological factors causing this clinical picture along with their clinical, laboratory and histopathological features. LD is inherited by autosomal recessively. Clinical findings usually start between 6 and 19 years of age, and the disease has its peak around 15 years of age. Clinical findings often begin at the end of the first decade or at the beginning of the second decade with the appearance of epileptic seizures. Seizures are myoclonic, generalized tonic-clonic, or focal occipital types.

This article briefly summarizes a case of fibromuscular dysplasia (FMD) with extensive carotid involvement, dissections, aortic aneurysm and stroke. The article also discusses the angiographic findings and reviews the relevant literature. The interesting feature of this case is aneurysm in the ascending aorta and aortic dissections, which may be possible signs of the involvement of these arteries in FMD. FMD is an uncommon vascular disease characterized by increased muscular and fibrous tissue in the arterial wall, which results in alternating dilation and narrowing of vessel segments.