PLA2G6-associated Dystonia-Parkinsonism: Case Report and Literature Review

Background:Phospholipase-associated neurodegeneration (PLAN) caused by PLA2G6 mutations is a recessively inherited disorder with three known phenotypes: the typical infantile onset neuroaxonal dystrophy (INAD); an atypical later onset form (atypical NAD); and the more recently recognized young-onset dystonia–parkinsonism (PLAN-DP). Case Report: We report the clinical, radiological, and genetic findings of a young Pakistani male with PLAN-DP. We review 11 previously published case reports cited in PubMed, and summarize the demographic, clinical, genetic, and radiological data of the 23 patients described in those articles. Discussion: PLAN-DP presents with diverse motor, autonomic, and neuropsychiatric features and should be considered in the differential diagnosis of patients with young-onset neurodegenerative disorders

Treatment of Levodopa-induced dyskinesia with Vitamin D: A Randomized, double-blind, placebo-controlled trial

Dyskinesia refers to any involuntary movement, such as chorea, dystonia, ballism that affect any part of the body. Levodopa-induced dyskinesia is a neurological disorder that afflicts many patients with Parkinson disease usually 5 years after the onset of levodopa therapy and can cause severe disability. The pathophysiology of this dyskinesia is complex and not fully understood. However, the association between vitamin D and Parkinson disease is interesting. The present study was conducted to evaluate the effect of vitamin D on levodopa induced dyskinesia in patients with Parkinson’s disease .In this Double blind clinical trial, 120 patients with PD divided into two groups randomly, vitamin D and placebo group. A dose of 1000 IU/d was selected, Demographic information is registered. In the first visit, three variables have been measured which were the duration, severity of dyskinesia and unified Parkinson’s disease rating scale (UPDRS). These variables were measured again after 3 months and the data was analyzed using SPSS 22. There are no differences between two groups after 3 months. This study revealed, vitamin D has no effects on improvement of levodopa induced dyskinesia

In Vitro Evaluation of Enzymatic and Antifungal Activities of SoilActinomycetes Isolates and Their Molecular Identifcation by PCR

Background: Human cutaneous infection caused by a homogeneous group of keratinophilic fungi called dermatophytes. These fungi are the most common infectious agents in humans that are free of any population and geographic area. Microsporum canis is a cause of dermatophytosis (Tinea) in recent years in Iran and atypical strain has been isolated in Iran. Its cases occur sporadically due to M. canis transmission from puppies and cats to humans. Since this pathogenic dermatophyte is eukaryotes, chemical treatment with antifungal drugs may also affect host tissue cells. Objectives: The aim of the current study was to fnd a new antifungal agent of soil-Actinomycetes from Kerman province against M. canis and Actinomycete isolates were identifed by PCR. Materials and Methods: A number of hundred Actinomycete isolated strains were evaluated from soil of Kerman province, for their antagonistic activity against the M. canis. M. canis of the Persian Type Culture Collection (PTCC) was obtained from the Iranian Research Organization for Science and Technology (IROST). Electron microscope studies of these isolates were performed based on the physiological properties of these antagonists including lipase, amylase, protease and chitinase activities according to the relevant protocols and were identifed using gene 16SrDNA. Results: In this study the most antagonist of Actinomycete isolates with antifungal activity against M. canis isolates of L1, D5, Ks1m, Km2, Kn1, Ks8 and Ks1 were shown in vitro. Electron microscopic studies showed that some fungal strains form spores, mycelia and spore chain. Nucleotide analysis showed that Ks8 had maximum homology (98%) to Streptomyces zaomyceticus strain xsd08149 and L1 displayed 100% homology to Streptomyces sp. HVG6 using 16SrDNA studies. Conclusions: Our fndings showed that Streptomyces has antifungal effects against M. canis

Quality of life in patients with Parkinson’s disease: Translation and psychometric evaluation of the Iranian version of PDQ-39

BACKGROUND: Health related quality of life is an important outcome measure in studies involving patients with chronic neurological conditions. Disease specific patient reported outcome measures (PROMs) are increasingly used as primary end points in clinical trials. The most widely used disease specific PROM is the 39 item Parkinson's Disease Questionnaire (PDQ-39). The aim of this study was to determine validity and reliability of Persian PDQ-39. METHODS: Two hundred Parkinson's disease patients attending neurologic clinics of teaching hospitals were recruited. PD patients completed a translated version of the PDQ-39. Internal consistency reliability of the questionnaire was assessed by Cronbach's alpha coefficient. Reproducibility was assessed across the 3-week interval using the intraclass correlation coefficient. To assess convergent validity, results on the PDQ-39 were correlated with those gained on the SF-36. Discriminate validity of questionnaire was assessed by comparing PDQ-39 scores and the severity and the duration of disease. RESULTS: A value of 0.93 (Cronbach's α) was gained for the summary score (PDQ-SI), indicating high levels of internal reliability. Alpha value of seven domains was greater than 0.70. The intraclass correlation coefficient ranged from 0.47 to 0.90. The range of correlation coefficients between domains of SF-36 and PDQ-SI was from -0.40 to -0.61. There was a statistically significant difference between severity of disease and mean scores of PDSI. CONCLUSIONS: This study provides evidence that the Persian version of PDQ-39 is a valid and reliable measure of quality of life in PD

A pilot trial of deferiprone in pantothenate kinase-associated neurodegeneration patients

Pantothenate kinase-associated neurodegeneration (PKAN) is the most common form of neurodegeneration with brain iron accumulation, it is an autosomal recessive disease due to mutation in PANK 2 on chromosome 20, which causes the accumulation of iron in basal ganglia and production of free radicals that cause degeneration of the cells. Deferiprone is an iron chelator that was used in treatment of thalassemia patients, it can cross the blood-brain barrier and reverse the iron deposition in the brain. Five patients with genetically confirmed PKAN received 15 mg/kg deferiprone twice daily. All patients were examined at baseline, 12 and 18 months and magnetic resonance imaging (MRI) was done at the baseline and after 18 months. In our study qualitative evaluation of MRI showed that deferiprone was able to reduce the iron load in globus pallidus of all the patients and the results of clinical rating scales show that in four patients, there is an improvement in the first 12 months. The results of our paper show that deferiprone can prevent the progression of the disease

The Frequency of DYT1 (GAG Deletion) Mutation in Primary Dystonia Patients from Iran

Objective: To determine the frequency of DYT1 mutation in Iranian patients affected withprimary dystonia.Materials and Methods: In this study, we investigated 60 patients with primary dystoniawho referred to the Tehran Medical Genetics Laboratory (TMGL) to determine thedeletional mutation of 904-906 del GAG in the DYT1 gene. DNA extracted from patients’peripheral blood was subjected to PCR-sequencing for exon 5 of the DYT1 gene. The collectionof samples was based on random sampling.Results: The deletional mutation of 904-906 del GAG in the DYT1 gene (15099 to 15101based on reference sequence: NG_008049.1) was identified in 11 patients (18.33%). Theaverage age of affected patients with this mutation was 13.64 ± 7.4 years.Conclusion: It can be concluded that the DYT1 deletional mutation of 904-906 del GAGhas a high frequency in Iranian patients in comparison with other non-Jewish populations.Therefore, this particular mutation may be the main representative of pathogenic DYT1gene for a large proportion of Iranian patients with primary dystonia