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1.
Clin Case Rep ; 12(6): e9065, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38883218

ABSTRACT

Key Clinical Message: The co-occurrence of myasthenia gravis (MG) and lichen planus (LP) is a rare phenomenon, with only 13 cases reported in the English literature between 1971 and 2024. Patients with MG or LP, regardless of the thymoma status, require close monitoring for other autoimmune diseases. Abstract: Myasthenia gravis (MG) is an uncommon autoimmune disease, resulting in fatigable muscle weakness in the ocular, bulbar, and respiratory muscles, as well as muscles of the extremities. Lichen planus (LP) is an autoimmune mucocutaneous disease, presenting with pruritic and violaceous plaques on the skin and mucosal surfaces. So far, MG and LP co-occurrence is only reported in anecdotal individuals. This study reports a patient with MG and LP and systematically reviews the English literature on this rare co-occurrence from 1971 to 2024, indicating only 13 cases with similar conditions. A 67-year-old man presented with ocular and progressive bulbar symptoms, a year after being diagnosed with generalized LP. Laboratory evaluations were normal except for the high anti-AchR-Ab titer and a positive ANA titer. Neurologic examinations revealed asymmetric bilateral ptosis, weakness and fatigability in proximal muscles, and a severe reduction in the gag reflex. He was diagnosed with late-onset, seropositive MG. The treatment included pyridostigmine (60 mg, three times daily), intravenous immunoglobulin (25 g daily for 5 days), and oral prednisolone. There was no evidence of thymoma in the chest x-ray and CT scan without contrast. However, a CT scan with contrast was not performed due to the patient's unstable condition. A common autoimmune mechanism may underlie the unclear pathophysiology of MG and LP co-occurrence, with or without thymoma. Patients with MG, LP, or thymoma require close monitoring and assessment for other possible autoimmune diseases.

2.
Brain ; 2024 Mar 25.
Article in English | MEDLINE | ID: mdl-38527963

ABSTRACT

Heterozygous RTN2 variants have been previously identified in a limited cohort of families affected by autosomal dominant spastic paraplegia (SPG12-OMIM:604805) with a variable age of onset. Nevertheless, the definitive validity of SPG12 remains to be confidently confirmed due to scarcity of supporting evidence. In our study, we identified and validated seven novel or ultra-rare homozygous loss-of-function RTN2 variants in 14 individuals from seven consanguineous families with distal hereditary motor neuropathy (dHMN) using exome, genome and Sanger sequencing coupled with deep-phenotyping. All affected individuals (seven males and seven females, aged 9-50 years) exhibited weakness in the distal upper and lower limbs, lower limb spasticity, hyperreflexia, with an onset in the first decade of life. Nerve conduction studies revealed axonal motor neuropathy with neurogenic changes in the electromyography. Despite a slowly progressive disease course, all patients remained ambulatory over a mean disease duration of 19.71 ± 13.70 years. Characterisation of C. elegans RTN2 homolog loss-of-function variants demonstrated morphological and behavioural differences compared to the parental strain. Treatment of the mutant with an endoplasmic/sarcoplasmic reticulum Ca2+ reuptake inhibitor (2,5-di-tert-butylhydroquinone) rescued key phenotypic differences, suggesting a potential therapeutic benefit for RTN2-disorder. Despite Reticulon-2 being an endoplasmic reticulum (ER)-resident membrane shaping protein, our analysis of patient fibroblast cells did not find significant alterations in ER structure or the response to ER stress. Our findings delineate a distinct form of autosomal recessive dHMN with pyramidal features associated with Reticulon-2 deficiency. This phenotype shares similarities with SIGMAR1-related dHMN, and Silver-like syndromes, providing valuable insights into the clinical spectrum and potential therapeutic strategies for RTN2-related dHMN.

3.
Article in English | MEDLINE | ID: mdl-37798838

ABSTRACT

OBJECTIVE: While motor symptoms are well-known in ALS, non-motor symptoms are often under-reported and may have a significant impact on quality of life. In this study, we aimed to examine the nature and extent of non-motor symptoms in ALS. METHODS: A 20-item questionnaire was developed covering the domains of autonomic function, sleep, pain, gastrointestinal disturbance, and emotional lability, posted online and shared on social media platforms to target people with ALS and controls. RESULTS: A total of 1018 responses were received, of which 927 were complete from 506 people with ALS and 421 unaffected individuals. Cold limbs (p 1.66 × 10-36), painful limbs (p 6.14 × 10-28), and urinary urgency (p 4.70 × 10-23) were associated with ALS. People with ALS were more likely to report autonomic symptoms, pain, and psychiatric symptoms than controls (autonomic symptoms B = 0.043, p 6.10 × 10-5, pain domain B = 0.18, p 3.72 × 10-11 and psychiatric domain B = 0.173, p 1.32 × 10-4). CONCLUSIONS: Non-motor symptoms in ALS are common. The identification and management of non-motor symptoms should be integrated into routine clinical care for people with ALS. Further research is warranted to investigate the relationship between non-motor symptoms and disease progression, as well as to develop targeted interventions to improve the quality of life for people with ALS.


Subject(s)
Amyotrophic Lateral Sclerosis , Humans , Amyotrophic Lateral Sclerosis/complications , Amyotrophic Lateral Sclerosis/diagnosis , Quality of Life , Pain/etiology , Disease Progression
4.
Article in English | MEDLINE | ID: mdl-37981575

ABSTRACT

OBJECTIVE: We investigated non-motor symptoms in ALS using sequential questionnaires; here we report the findings of the second questionnaire. METHODS: A social media platform (Twitter, now known as X) was used to publicize the questionnaires. Data were downloaded from SurveyMonkey and analyzed by descriptive statistics, comparison of means, and regression models. RESULTS: There were 182 people with ALS and 57 controls. The most important non-motor symptoms were cold limbs (60.4% cases, 14% controls, p = 9.67 x 10-10) and appetite loss (29.7% cases, 5.3% controls, p = 1.6 x 10-4). The weaker limb was most likely to feel cold (p = 9.67 x 10-10), and symptoms were more apparent in the evening and night. Appetite loss was reported as due to feeling full and the time taken to eat. People with ALS experienced medium-intensity pain, more usually shock-like pain than burning or cold-like pain, although the most prevalent type of pain was non-differentiated. CONCLUSIONS: Non-motor symptoms are an important feature of ALS. Further investigation is needed to understand their physiological basis and whether they represent phenotypic differences useful for subtyping ALS.


Subject(s)
Amyotrophic Lateral Sclerosis , Humans , Amyotrophic Lateral Sclerosis/complications , Amyotrophic Lateral Sclerosis/diagnosis , Amyotrophic Lateral Sclerosis/epidemiology , Surveys and Questionnaires , Pain/epidemiology , Pain/etiology
5.
Curr J Neurol ; 22(1): 35-43, 2023 Jan 05.
Article in English | MEDLINE | ID: mdl-38011346

ABSTRACT

Background: Failure in early diagnosis of myasthenia gravis (MG) and the risks of taking certain medications and undergoing surgery and anesthesia can lead to severe respiratory disorders and death. However, there are therapeutic measures that significantly control the disease and improve individual's functionality. Methods: First, an expert panel was formed, and a needs assessment questionnaire was prepared for the information elements and the capabilities required for the application and provided to neurologists with a subspecialty fellowship in neuromuscular diseases. Then, based on the analyzed results, the application was designed and created in 2 versions (physician and patient), and in 2 languages (Persian and English). Eventually, a questionnaire for user interaction and satisfaction was provided to 5 relevant physicians to evaluate the application. Results: The results showed that neurologists considered all items of the needs assessment questionnaire to be 100% essential. The capabilities of the application included registering the medication name and dose, recording symptoms and complaints by the patient, completing standard questionnaires, online chat, medication reminder, sending alerts to the doctor when the patient is unwell, and providing a variety of reports. The usability evaluation showed that neurologists evaluated the application at a good level with the average score of 8.23 ± 0.47 (out of 9 points). Conclusion: In the long run, using this technology can reduce costs, improve patients' quality of life (QOL) and health care, change health behaviors, and ultimately, improve individual's health.

6.
Brain Behav ; 13(9): e3167, 2023 09.
Article in English | MEDLINE | ID: mdl-37489031

ABSTRACT

BACKGROUND: In addition to affecting the nerves and muscles, amyotrophic lateral sclerosis (ALS) disease also affects the behavior and cognition of patients. In this study, we examine the validity and reliability of the Persian version of Motor Neuron Disease Behavioral instrument (MiND-B) questionnaire to investigate behavioral changes in Persian-speaking ALS patients. METHODS: Forty-six Persian-speaking patients with ALS filled out the MiND-B questionnaire. Then, the overall scores and each of the domains of this questionnaire were statistically analyzed. RESULTS: Cronbach's alpha coefficient was calculated .70 for the whole questionnaire. To check the validity of the questionnaire, the correlation of its scores with the Edinburgh Cognitive and Behavioral ALS screen (ECAS-A) questionnaire was taken, and this correlation was significant (p = .038). CONCLUSION: The findings of this study show that the Persian version of the MiND-B questionnaire has the necessary validity and reliability to investigate behavioral changes in Persian-speaking patients with ALS.


Subject(s)
Amyotrophic Lateral Sclerosis , Cognition Disorders , Humans , Amyotrophic Lateral Sclerosis/diagnosis , Amyotrophic Lateral Sclerosis/psychology , Reproducibility of Results , Cognition/physiology , Surveys and Questionnaires
7.
Front Neurol ; 14: 1154579, 2023.
Article in English | MEDLINE | ID: mdl-37333000

ABSTRACT

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegeneration involving motor neurons. The 3-5 years that patients have to live is marked by day-to-day loss of motor and sometimes cognitive abilities. Enormous amounts of healthcare services and resources are necessary to support patients and their caregivers during this relatively short but burdensome journey. Organization and management of these resources need to best meet patients' expectations and health system efficiency mandates. This can only occur in the setting of multidisciplinary ALS clinics which are known as the gold standard of ALS care worldwide. To introduce this standard to the care of Iranian ALS patients, which is an inevitable quality milestone, a national ALS clinical practice guideline is the necessary first step. The National ALS guideline will serve as the knowledge base for the development of local clinical pathways to guide patient journeys in multidisciplinary ALS clinics. To this end, we gathered a team of national neuromuscular experts as well as experts in related specialties necessary for delivering multidisciplinary care to ALS patients to develop the Iranian ALS clinical practice guideline. Clinical questions were prepared in the Patient, Intervention, Comparison, and Outcome (PICO) format to serve as a guide for the literature search. Considering the lack of adequate national/local studies at this time, a consensus-based approach was taken to evaluate the quality of the retrieved evidence and summarize recommendations.

8.
Sleep Breath ; 27(6): 2517-2522, 2023 12.
Article in English | MEDLINE | ID: mdl-37231286

ABSTRACT

OBJECTIVES: Poor sleep quality is more prevalent in patients with amyotrophic lateral sclerosis (ALS) than in healthy populations. The purpose of this study was to examine whether or not motor dysfunction at various distinct levels correlates with subjective sleep quality. METHODS: Patients with ALS and controls were assessed using the Pittsburgh Sleep Quality Index (PSQI), ALS Functional Rating Scale Revised (ALSFRS-R), Beck Depression Inventory-II (BDI-II), and the Epworth Sleepiness Scale (ESS). The ALSFRS-R was used to obtain information on 12 different aspects of motor function in patients with ALS. We compared these data between the groups with poor and good sleep quality. RESULTS: A total of 92 patients with ALS and 92 age- and sex-matched controls entered the study. The global PSQI score was significantly higher in patients with ALS than in healthy subjects (5.5 ± 4.2 vs. 4.0 ± 2.8) and 44% of the patients with ALS had poor sleep quality (PSQI score > 5). The sleep duration, sleep efficiency, and sleep disturbances components were significantly worse in patients with ALS. Sleep quality (PSQI) score correlated with ALSFRS-R score, BDI-II score, and ESS score. Of the 12 ALSFRS-R functions, swallowing significantly affected sleep quality. Orthopnea, speech, salivation, dyspnea, and walking had a medium effect. In addition, turning in bed, climbing stairs, and dressing and hygiene were found to have a small effect on sleep quality among patients with ALS. CONCLUSIONS: Nearly half of our patients had poor sleep quality related to disease severity, depression, and daytime sleepiness. Bulbar muscle dysfunction may be associated with sleep disturbances in individuals with ALS, particularly when swallowing is impaired. In addition, patients suffering from axial or lower limb muscle disruptions are likely to have trouble sleeping.


Subject(s)
Amyotrophic Lateral Sclerosis , Sleep Wake Disorders , Humans , Sleep Quality , Amyotrophic Lateral Sclerosis/complications , Amyotrophic Lateral Sclerosis/diagnosis , Severity of Illness Index , Deglutition/physiology , Patient Acuity , Sleep Wake Disorders/diagnosis , Sleep Wake Disorders/epidemiology , Sleep Wake Disorders/complications
9.
Graefes Arch Clin Exp Ophthalmol ; 260(12): 3969-3975, 2022 Dec.
Article in English | MEDLINE | ID: mdl-35781594

ABSTRACT

INTRODUCTION: As an inflammatory phenomenon, optic neuritis (ON) that causes demyelination in the optic nerve damages the retinal cells, and leads to visual impairment. Herein, we aimed to investigate the potential therapeutic effects of memantine on ON. METHODS: In this double-blinded randomized clinical trial, participants with the first episode of acute ON meeting the inclusion criteria were enrolled and were randomly divided into memantine group (MG; N = 20) and placebo group (PG; N = 18). Patients of MG received memantine for 6 weeks. The thickness of the retinal nerve fiber layer (RNFL), visual evoked potential (VEP), and visual acuity (VA) was measured in both groups at baseline and 3-month follow-up. RESULTS: Thirty-eight patients with ON were enrolled. In the follow-up, mean RNFL thickness of both groups significantly decreased in all quadrants (P < 0.001). Also, RNFL thickness of all but temporal quadrants were significantly higher in the MG than placebo. The reduction in RNFL thickness difference was insignificant between two groups in all but the inferior quadrant which was significantly lower in MG (P = 0.024). In follow-up, mean-to-peak of P100 of the affected eye were significantly lowered (P < 0.001). The changes in VEP were insignificant. Originally, the mean VA was 0.15 ± 0.08 and 0.17 ± 0.09 in MG and PG, respectively, but was improved significantly to 0.92 ± 0.06 and 0.91 ± 0.06 in MG and PG, respectively, in follow-up. CONCLUSION: Memantine can reduce the RNFL thinning in three quadrants by blocking NMD receptors. However, visual acuity did not show a significant difference between the two groups.


Subject(s)
Memantine , Optic Neuritis , Humans , Memantine/therapeutic use , Evoked Potentials, Visual , Tomography, Optical Coherence , Optic Neuritis/diagnosis , Optic Neuritis/drug therapy , Optic Neuritis/etiology , Retina
10.
Arch Iran Med ; 25(1): 37-49, 2022 01 01.
Article in English | MEDLINE | ID: mdl-35128911

ABSTRACT

Myasthenia gravis (MG) is an immune-mediated potentially treatable disease in which rapid diagnosis and proper treatment can control symptoms. Treatment should be individualized in each patient according to distribution (ocular or generalized) and severity of the weakness, antibody status, thymus pathology, patient comorbidities, and preferences. A group of Iranian neuromuscular specialists have written these recommendations to treat MG based on national conditions. Four of the authors performed an extensive literature review, including PubMed, EMBASE, and Google Scholar, from 1932 to 2020 before the central meeting to define headings and subheadings. The experts held a 2-day session where the primary drafts were discussed point by point. Primary algorithms for the management of MG patients were prepared in the panel discussion. After the panel, the discussions continued in virtual group discussions, and the prepared guideline was finalized after agreement and concordance between the panel members. Finally, a total of 71 expert recommendations were included. We attempted to develop a guideline based on Iran's local requirements. We hope that these guidelines help healthcare professionals in proper treatment and follow-up of patients with MG.


Subject(s)
Myasthenia Gravis , Consensus , Humans , Iran , Myasthenia Gravis/diagnosis , Myasthenia Gravis/therapy
11.
Nutr Neurosci ; 25(3): 511-518, 2022 Mar.
Article in English | MEDLINE | ID: mdl-32420827

ABSTRACT

Objective: The prevalence of migraine is higher in patients with gastrointestinal disorders. Possible underlying mechanisms could be increased intestinal permeability and systemic inflammation. Probiotics may reduce gut permeability as well as inflammation, and therefore may improve the clinical features of migraine. This systematic review and meta-analysis aimed to evaluate the impact of probiotic supplementation on the frequency and severity of migraine attacks.Methods: A systematic review of the literature was conducted using ISI Web of Science, PubMed/Medline, Scopus, Cochrane Library, EMBASE, Google Scholar, Magiran.com and Sid.ir to identify eligible studies published up to October 2019. A meta-analysis of eligible trials was performed using the random-effects model to estimate pooled effect size.Results: Three randomized controlled trials with 179 patients (probiotic group = 94, placebo group = 85) were included. Probiotic supplementation had no significant effect on frequency (weighted mean difference (WMD) = -2.54 attacks/month, 95%CI: -5.31-0.22, p = 0.071) and severity of migraine attacks (WMD = -1.23 visual analog scale (VAS) score, 95%CI = -3.37-0.92, p = 0.262) with significant heterogeneity among the studies (I2 = 98%, p < 0.001).Conclusions: A pooled analysis of available randomized controlled clinical trials showed that probiotic supplementation had no significant effect on the frequency and severity of episodic migraine attacks.


Subject(s)
Migraine Disorders , Probiotics , Humans , Inflammation , Migraine Disorders/prevention & control , Probiotics/therapeutic use , Randomized Controlled Trials as Topic
12.
eNeurologicalSci ; 25: 100379, 2021 Dec.
Article in English | MEDLINE | ID: mdl-34869924

ABSTRACT

BACKGROUND: The ALS diagnostic challenges necessitate more robust diagnostic and prognostic methods. A potential biomarker in this regard is the alterations of ferritin levels in the serum and CSF of patients compared to controls. METHODS: The CSF and serum ferritin levels were measured in 50 ALS cases and 50 control patients with predefined exclusion criteria. The ELISA method was utilized for laboratory measurement and was statistically analyzed using the SPSS. RESULTS: Heightened serum ferritin levels in cases were not statistically significant. However, CSF ferritin levels were significantly higher in ALS patients (P < 0.001). Serum ferritin levels were significantly negatively correlated with the disease duration (P = 0.015) and were significantly positively correlated with the disease progression rate (DPR) (P = 0.012). CONCLUSION: Heightened CSF ferritin levels can be used for the diagnosis of ALS. The correlation between the serum ferritin levels with the DPR and its correlation with the disease duration suggests potential prognostic utilities.

13.
Front Neurol ; 12: 739931, 2021.
Article in English | MEDLINE | ID: mdl-34621239

ABSTRACT

Background: Pompe disease, also denoted as acid maltase or acid α-glucosidase deficiency or glycogen storage disease type II, is a rare, autosomal recessive lysosomal storage disorder. Several reports have previously described Pompe disease in Iran and considering increased awareness of related subspecialties and physicians, the disease's diagnosis is growing. Objective: This guideline's main objective was to develop a national guideline for Pompe disease based on national and international evidence adapting with national necessities. Methods: A group of expert clinicians with particular interests and experience in diagnosing and managing Pompe disease participated in developing this guideline. This group included adult neurologists, pediatric neurologists, pulmonologists, endocrinologists, cardiologists, pathologists, and physiatrists. After developing search terms, four authors performed an extensive literature review, including Embase, PubMed, and Google Scholar, from 1932 to current publications before the main meeting. Before the main consensus session, each panel member prepared an initial draft according to pertinent data in diagnosis and management and was presented in the panel discussion. Primary algorithms for the diagnosis and management of patients were prepared in the panel discussion. The prepared consensus was finalized after agreement and concordance between the panel members. Conclusion: Herein, we attempted to develop a consensus based on Iran's local requirements. The authors hope that disseminating these consensuses will help healthcare professionals in Iran achieve the diagnosis, suitable treatment, and better follow-up of patients with infantile-onset Pompe disease and late-onset Pompe disease.

14.
Front Neurol ; 12: 682622, 2021.
Article in English | MEDLINE | ID: mdl-34512504

ABSTRACT

Objectives: Myasthenia gravis (MG) is an immune-mediated neuromuscular disorder responsive to immunomodulatory treatments. 10-20% of MGs are not responsive to conventional first-line therapies. Here, we sought to investigate the efficacy and safety of rituximab therapy in the treatment of patients with refractory MG. Methods: In a 48-week, multicenter, open-labeled, prospective cohort setting, 34 participants with refractory MG were assigned to receive infusions of Zytux, which is a rituximab biosimilar, according to a validated protocol. Clinical, functional, and quality of life (QoL) measurements were recorded at baseline, and seven further visits using the Myasthenia Gravis Foundation of America (MGFA), Myasthenia Gravis Composite (MGC), Myasthenia Gravis Activities of Daily Living profile (MG-ADL), and Myasthenia Gravis Quality of Life (MGQoL-15) scales. Besides, the post-infusion side effects were systematically assessed throughout the study. Results: The correlation analysis performed by generalized estimating equations analysis represented a significant reduction of MGC, MG-ADL, and MGQoL-15 scores across the trial period. The subgroup analysis based on the patients' clinical status indicated a significant effect for the interaction between time and MGFA subtypes on MG-ADL score, MGC score, and pyridostigmine prednisolone dose, reflecting that the worse clinical condition was associated with a better response to rituximab. Finally, no serious adverse event was documented. Conclusions: Rituximab therapy could improve clinical, functional, and QoL in patients with refractory MG in a safe setting. Further investigations with larger sample size and a more extended follow-up period are warranted to confirm this finding. Clinical Trial Registration: The study was registered by the Iranian Registry of Clinical Trials (IRCT) (Code No: IRCT20150303021315N18).

15.
BMC Res Notes ; 14(1): 283, 2021 Jul 23.
Article in English | MEDLINE | ID: mdl-34301320

ABSTRACT

OBJECTIVE: The purpose of this clinical trial was to examine the effect of omega-3 fatty acids (W-3 FAs), nanocurcumin and their combination on serum levels and gene expression of VCAM in patients with episodic migraine. RESULTS: In this study, 80 patients were randomly divided in to 4 groups to receive for 2 months. Both serum levels and gene expression of VCAM showed remarkable decreases after single W-3 and after combined W-3 and nanocurcumin interventions. However, a borderline significant change and no remarkable change were observed after single nanocurcumin supplementation and in control group, respectively. While a significant difference between study groups in VCAM concentrations existed, there was no meaningful difference in VCAM gene expression among groups. It appears that the W-3 and combined W-3 and nanocurcumin can relieve VCAM serum level and its gene expression in patients with episodic migraine. Moreover, the combination of W-3 with nanocurcumin might cause more significant declines in VCAM level in the serum of migraine patients than when W-3 is administered alone. TRIAL REGISTRATION: This study was registered in Iranian Registry of Clinical Trials (IRCT) with ID number: NCT02532023.


Subject(s)
Curcumin , Fatty Acids, Omega-3 , Migraine Disorders , Curcumin/therapeutic use , Double-Blind Method , Humans , Iran , Migraine Disorders/drug therapy , Vascular Cell Adhesion Molecule-1/genetics
16.
J Clin Neurosci ; 89: 232-236, 2021 Jul.
Article in English | MEDLINE | ID: mdl-34119273

ABSTRACT

BACKGROUND: The relationship between reserve of L-carnitine and severity in patients with Amyotrophic lateral sclerosis (ALS) is not studied sufficiently. We decided to measure the serum levels of L-carnitine in patients and the relationship with ALS severity. METHOD: This cross-sectional study evaluated the serum levels of L-carnitine in 30 patients with ALS (total-case) divided into two groups included 15 patients in the Oral-Fed (OF) group and 15 patients in the Enteral-Fed (EF) group, compared with 15 healthy people matched in age and sex in the control group. We measured the body mass index (BMI), daily intake of L-carnitine, amyotrophic lateral sclerosis functional rating scale (ALSFRS), and serum L-carnitine level in all participants and compared among groups. RESULTS: Serum L-carnitine (p < 0.001) and BMI (p = 0.03) were significantly lower in the total-case group compared to the control group. Alternatively, the serum level of L-carnitine (p = 0.001), ALSFRS (p < 0.001), BMI (p = 0.007), and dietary L-carnitine intake (p = 0.002) were significantly higher in OF group compared with EF. Higher serum L-carnitine levels were associated with a higher score of ALSFRS (ß = 0.46, P = 0.01) in the total-case group. CONCLUSION: Our study's results showed that serum levels of L-carnitine were lower in patients with ALS in comparison to healthy people. Also, the lower serum level of L-carnitine was associated with the higher severity of the disease.


Subject(s)
Amyotrophic Lateral Sclerosis/blood , Amyotrophic Lateral Sclerosis/diagnosis , Carnitine/blood , Disease Progression , Severity of Illness Index , Adult , Aged , Biomarkers/blood , Body Mass Index , Cross-Sectional Studies , Eating/physiology , Female , Humans , Male , Middle Aged
17.
Muscle Nerve ; 63(5): 730-736, 2021 05.
Article in English | MEDLINE | ID: mdl-33533549

ABSTRACT

INTRODUCTION: In this case-control study, we investigated the association between nucleotide oligomerization domain-like receptor family pyrin domain containing 3 (NLRP3) single-nucleotide polymorphisms (SNPs) rs10754558, rs3806265, rs4612666, and rs35829419 and myasthenia gravis (MG). METHODS: Samples from MG patients were selected from a previous study conducted in our neuromuscular clinic, which investigated the association between human leukocyte antigen (HLA) class II genes and MG. Genetic data of controls were also available from another study. The NLRP3 SNPs genotyping was performed using the TaqMan method. RESULTS: A total of 93 blood samples from eligible Iranian patients with MG and 56 samples from healthy controls were obtained. The NLRP3 rs3806265 "C" allele was significantly more frequent in MG patients (P < .001; odd ratio [OR] = 2.33, 95% confidence interval [CI]: 1.4-4.0) than controls. The "CC" genotype of this SNP was found in 18.27% of patients, but none of the controls (P < .001). The distribution of other SNPs was similar between the groups. DISCUSSION: These preliminary results suggest that there might be some associations between the NLRP3 gene polymorphism and MG.


Subject(s)
Genetic Predisposition to Disease , Myasthenia Gravis/genetics , NLR Family, Pyrin Domain-Containing 3 Protein/genetics , Polymorphism, Single Nucleotide , Adult , Alleles , Case-Control Studies , Female , Genetic Association Studies , Genotype , Humans , Male , Middle Aged
18.
Eur J Neurol ; 28(4): 1344-1355, 2021 04.
Article in English | MEDLINE | ID: mdl-33220101

ABSTRACT

BACKGROUND AND PURPOSE: Pathogenic variants in PLEKHG5 have been reported to date to be causative in three unrelated families with autosomal recessive intermediate Charcot-Marie-Tooth disease (CMT) and in one consanguineous family with spinal muscular atrophy (SMA). PLEKHG5 is known to be expressed in the human peripheral nervous system, and previous studies have shown its function in axon terminal autophagy of synaptic vesicles, lending support to its underlying pathogenetic mechanism. Despite this, there is limited knowledge of the clinical and genetic spectrum of disease. METHODS: We leverage the diagnostic utility of exome and genome sequencing and describe novel biallelic variants in PLEKHG5 in 13 individuals from nine unrelated families originating from four different countries. We compare our phenotypic and genotypic findings with a comprehensive review of cases previously described in the literature. RESULTS: We found that patients presented with variable disease severity at different ages of onset (8-25 years). In our cases, weakness usually started proximally, progressing distally, and can be associated with intermediate slow conduction velocities and minor clinical sensory involvement. We report three novel nonsense and four novel missense pathogenic variants associated with these PLEKHG5-associated neuropathies, which are phenotypically spinal muscular atrophy (SMA) or intermediate Charcot-Marie-Tooth disease. CONCLUSIONS: PLEKHG5-associated neuropathies should be considered as an important differential in non-5q SMAs even in the presence of mild sensory impairment and a candidate causative gene for a wide range of hereditary neuropathies. We present this series of cases to further the understanding of the phenotypic and molecular spectrum of PLEKHG5-associated diseases.


Subject(s)
Charcot-Marie-Tooth Disease , Charcot-Marie-Tooth Disease/genetics , Consanguinity , Genes, Recessive , Genotype , Guanine Nucleotide Exchange Factors , Humans , Mutation , Phenotype
19.
Nutr Neurosci ; 24(4): 317-326, 2021 Apr.
Article in English | MEDLINE | ID: mdl-31241007

ABSTRACT

Introduction: Migraine is a disabling neurovascular disorder characterized by increasing levels of pro-inflammatory cytokines and oxidative stress biomarkers. Curcumin and coenzyme Q10 (CoQ10) can exert neuroprotective effects through modulation of inflammation and oxidative stress. The aim of the present study was to evaluate the combined effects of nano-curcumin and CoQ10 supplementation on migraine symptoms and quality of life in migraine patients.Methods: One-hundred men and women (mean age 32 years) with episodic migraine based on the International Headache Society (IHS) criteria participated in this study. The subjects were randomly divided into four groups as (1) combination of nano-curcumin (80 mg) plus CoQ10 (300 mg), (2) nano-curcumin (80 mg), (3) CoQ10 (300 mg) and (4) the control (nano-curcumin and CoQ10 placebo included oral paraffin oil) beside usual prophylactic drugs for 8 weeks. Frequency, severity, duration of headache attacks, the headache diary results (HDR) and headache disability based on migraine-specific questionnaires were assessed at the baseline and end of the study.Results: Ninety-one of 100 patients completed the study. The results showed a significant effect of nano-curcumin and CoQ10 supplementation on frequency, severity, duration of migraine attacks and HDR compared to other groups (All P < 0.001). Nano-curcumin and CoQ10 group also had better scores in migraine-specific questionnaires at the end of the study compared to other groups (All P < 0.001). There were no side effects reported by the participants.Conclusions: These findings suggest a possible synergistic effect of nano-curcumin and CoQ10 on clinical features of migraine.Trial registration number: IRCT2017080135444N1.


Subject(s)
Curcumin , Migraine Disorders , Neuroprotective Agents , Ubiquinone/analogs & derivatives , Adult , Biomarkers , Curcumin/therapeutic use , Dietary Supplements , Double-Blind Method , Female , Humans , Inflammation , Male , Migraine Disorders/prevention & control , Oxidative Stress , Quality of Life , Ubiquinone/therapeutic use
20.
Curr J Neurol ; 20(1): 54-55, 2021 Jan 04.
Article in English | MEDLINE | ID: mdl-38011402
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