In this study, the role of known Parkinson's disease (PD) genes was examined in families with autosomal recessive (AR) parkinsonism to assist with the differential diagnosis of PD. Some families without mutations in known genes were also subject to whole genome sequencing with the objective to identify novel parkinsonism-related genes. Families were selected from 4000 clinical files of patients with PD or parkinsonism. AR inheritance pattern, consanguinity, and a minimum of two affected individuals per family were used as inclusion criteria. For disease gene/mutation identification, multiplex ligation-dependent probe amplification, quantitative PCR, linkage, and Sanger and whole genome sequencing assays were carried out. A total of 116 patients (50 families) were examined. Fifty-four patients (46.55%; 22 families) were found to carry pathogenic mutations in known genes while a novel gene, not previously associated with parkinsonism, was found mutated in a single family (2 patients). Pathogenic mutations, including missense, nonsense, frameshift, and exon rearrangements, were found in Parkin, PINK1, DJ-1, SYNJ1, and VAC14 genes. In conclusion, variable phenotypic expressivity was seen across all families.
Background: There are currently conflicting results regarding the link between vitamin D deficiency and increased risk for stroke and its poor prognosis. The present study aimed to assess the relationship between vitamin D deficiency and prognosis of acute stroke.
Methods: This bi-center cross-sectional study was performed on 140 consecutive patients who referred to two general hospitals in Iran with the diagnosis of acute stroke. The levels of 25-hydroxy vitamin D were evaluated by Electrochemiluminescence (ECL) technique. Clinical severity of stroke on admission as well as on discharge time were evaluated using the National Institutes of Health Stroke Scale (NIHSS) or Modified Rankin (mRS) tools.
Results: Mean serum level of vitamin D was 25.51 ± 18.87 ng/mL, ranging from 3.0 to 98.6 ng/ml. There was a significant difference between the two groups (with and without vitamin D deficiency) in terms of stroke severity and disability, as reflected by mRS (P=0.003) and NIHSS evaluation (14.24 ± 9.23 versus 9.73 ± 7.36, P=0.003). Also, regarding patients’ clinical condition, the mean NIHSS score in those with deficient and normal levels of vitamin D was 14.24 ± 9.23 and 9.73 ± 7.36, respectively with NIHSS score > 5 in 76.1% and 61.5%, respectively (P = 0.003).
Conclusion: According to the results of study, vitamin D status can be related to the severity of stroke. However, considering the cross-sectional design of our study, it could not point out the causality between vitamin D deficiency and acute stroke and further studies are warranted. It is not possible to draw any conclusions in terms of causality. Further studies are required in order to assess the relationship between the serum vitamin D levels and stroke severity.
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