Publications by authors named "Mohammad Rohani"

102 Publications

Impact of anticholinergic drugs withdrawal on motor function in patients with Parkinson's disease.

Clin Neurol Neurosurg 2021 Jan 8;202:106480. Epub 2021 Jan 8.

Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran. Electronic address:

Objectives: Physicians have prescribed anticholinergic agents as monotherapy or adjuvant therapy in patients with Parkinson's disease for decades. However, these medications can cause many adverse effects including gait freezing and falling. Herein we assessed the effects of anticholinergic medications on motor function, freezing of gait and falling in a group of patients with PD.

Patients And Methods: This prospective study evaluated the effect of gradual discontinuation of anticholinergics on motor function in 131 outpatients with Parkinson's disease. We assessed patients' motor function at baseline six and twelve months later using the UPDRS-III. We also evaluated freezing of gait and falling in patients using UPDRS-II part 14 and 13 respectively. The anticholinergics were tapered and gradually discontinued and additional levodopa doses were added as patients needed.

Results: 131patients successfully discontinued their anticholinergic medications. Stopping anticholinergics significantly improved the motor symptoms in PD patients as reflected in the change between the mean (±SD) UPDRS-III score of 36.85(±11.5) at the baseline to 32.51(±11.4) and 31.43 (±11.3) after six and twelve months (P < 0.001). The mean (±SD) scores of freezing of gait (FOG)significantly changed from 1.34(±1) to 1.17(±1) and 0.6(±0.7) and for falling down from 0.62(±0.8) to 0.5 (±0.8) and 0.29(±0.5) respectively (p-value of <0.001).

Conclusion: Our finding demonstrated an improvement in motor function and FOG and falling incidences in PD patients, after discontinuation of anticholinergic drugs. As motor complications adversely affect the quality of life in PD patients, clinicians must be careful with the unnecessary use of anticholinergic drugs in their treatment strategies.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clineuro.2021.106480DOI Listing
January 2021

Opsoclonus-myoclonus syndrome, a post-infectious neurologic complication of COVID-19: case series and review of literature.

J Neurovirol 2021 Feb 25;27(1):26-34. Epub 2021 Jan 25.

Department of Neurology, School of Medicine, Hazrat Rasool-E Akram General Hospital, Iran University of Medical Sciences, Tehran, Iran.

Opsoclonus-myoclonus-ataxia syndrome is a heterogeneous constellation of symptoms ranging from full combination of these three neurological findings to varying degrees of isolated individual sign. Since the emergence of coronavirus disease 2019 (COVID-19), neurological symptoms, syndromes, and complications associated with this multi-organ viral infection have been reported and the various aspects of neurological involvement are increasingly uncovered. As a neuro-inflammatory disorder, one would expect to observe opsoclonus-myoclonus syndrome after a prevalent viral infection in a pandemic scale, as it has been the case for many other neuro-inflammatory syndromes. We report seven cases of opsoclonus-myoclonus syndrome presumably parainfectious in nature and discuss their phenomenology, their possible pathophysiological relationship to COVID-19, and diagnostic and treatment strategy in each case. Finally, we review the relevant data in the literature regarding the opsoclonus-myoclonus syndrome and possible similar cases associated with COVID-19 and its diagnostic importance for clinicians in various fields of medicine encountering COVID-19 patients and its complications.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s13365-020-00941-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7831695PMC
February 2021

Long term follow-up results of deep brain stimulation of the Globus pallidus interna in pediatric patients with DYT1-positive dystonia.

Clin Neurol Neurosurg 2021 Feb 28;201:106449. Epub 2020 Dec 28.

Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran; Skull Base Research Center, Five Senses Health Institute, Iran University of Medical Sciences, Tehran, Iran. Electronic address:

Objectives: Primary generalized dystonia (PGD) due to heterozygous torsin 1A (TOR1A) gene mutation (DYT1) is a childhood onset dystonia with rapid deterioration of symptoms, leading to severe disability in adolescence. Globus pallidus interna deep brain stimulation (GPi-DBS) has been shown to provide significant improvement in these cases.

Methods: This was a retrospective study of TOR1A mutation positive dystonia patients, conducted at a university hospital from 2006 to 2018. Burke-Fahn-Marsden Dystonia Rating Scale (BFM-DRS) was used to evaluate dystonia severity before and after surgery. Emergence of postsurgical parkinsonian symptoms was evaluated using the Unified Parkinson Disease Rating Scale (UPDRS) part III. Montreal Cognitive Assessment (MOCA) was applied to assess cognitive dysfunction. SPSS version 18 was used for data analysis.

Results: Eleven patients entered for analysis with an average age of 22.36 (±3.35) years (range: 18-28). Seven patients (63.6 %) were female. Mean follow-up period was 8.72 (±0.87). Difference between baseline and most recent BFM scores was significant (disability: 10.5 ±4.52 versus 2.09 (±3.20), P: 0.001; severity: 48.45 (±17.88) versus 9.36 (±10.47), P<0.001). The mean MOCA and UPDRS III scores after 7-9 years of DBS were 27.18 (±2.99), and 6.09 (±4.15), respectively.

Conclusion: Our experience confirms that GPi-DBS in pediatric patients with DYT1 dystonia is overall successful, with significant and long-lasting positive effects on motor and cognitive functions. There was no prominent side effect in long-term follow up.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clineuro.2020.106449DOI Listing
February 2021

Clinical spectrum in multiple families with primary COQ deficiency.

Am J Med Genet A 2021 02 20;185(2):440-452. Epub 2020 Nov 20.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

Coenzyme Q COQ , an essential cofactor in the electron-transport chain is involved in ATP production. Primary COQ deficiency is clinically and genetically a heterogeneous group of mitochondrial disorders caused by defects in the COQ synthesis pathway. Its mode of inheritance is autosomal recessive and it is characterized by metabolic abnormalities and multisystem involvement including neurological features. Mutations in 10 genes have been identified concerning this group of diseases, so far. Among those, variants of the COQ7 gene are very rare and confined to three patients with Asian ancestry. Here, we present the clinical features and results of whole-exome sequencing (WES) of three Iranian unrelated families affected by primary COQ deficiency. Three homozygous variants in COQ2, COQ4, and COQ7 genes were identified. Candidate variants of the COQ2 and COQ4 genes were novel and associated with the cerebellar signs and multisystem involvement, whereas, the known variant in COQ7 was associated with a mild phenotype that was initially diagnosed as hereditary spastic paraplegia (HSP). This variant has already been reported in a Canadian girl with similar presentations that also originated from Iran suggesting both patients may share a common ancestor. Due to extensive heterogeneity in this group of disorders, and overlap with other mitochondrial/neurological disorders, WES may be helpful to distinguish primary coenzyme Q deficiency from other similar conditions. Given that some features of primary coenzyme Q deficiency may improve with exogenous COQ , early diagnosis is very important.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61983DOI Listing
February 2021

BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes.

Neurobiol Aging 2021 Mar 5;99:102.e1-102.e10. Epub 2020 Oct 5.

School of Biology, College of Science, University of Tehran, Tehran, Iran. Electronic address:

Brown-Vialetto-Van Laere (BVVL) and Fazio-Londe are disorders with amyotrophic lateral sclerosis-like features, usually with recessive inheritance. We aimed to identify causative mutations in 10 probands. Neurological examinations, genetic analysis, audiometry, magnetic resonance imaging, biochemical and immunological testings, and/or muscle histopathology were performed. Mutations in known causative gene SLC52A3 were found in 7 probands. More importantly, only 1 mutated allele was observed in several patients, and variable expressivity and incomplete penetrance were clearly noted. Environmental insults may contribute to variable presentations. Putative causative mutations in other genes were identified in 3 probands. Two of the genes, WDFY4 and TNFSF13B, have immune-related functions. Inflammatory responses were implicated in the patient with the WDFY4 mutation. Malfunction of the immune system and mitochondrial anomalies were shown in the patient with the TNFSF13B mutation. Prevalence of heterozygous SLC52A3 BVVL causative mutations and notable variability in expressivity of homozygous and heterozygous genotypes are being reported for the first time. Identification of WDFY4 and TNFSF13B as candidate causative genes supports conjectures on involvement of the immune system in BVVL and amyotrophic lateral sclerosis.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neurobiolaging.2020.09.021DOI Listing
March 2021

Alien Leg Syndrome in Two Cases of Corticobasal Syndrome.

Can J Neurol Sci 2020 Oct 26:1-3. Epub 2020 Oct 26.

Department of Neurology, Hazrat Rasool hospital, Iran University of Medical Sciences, Tehran, Iran.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1017/cjn.2020.238DOI Listing
October 2020

High blood pressure self-care among hypertensive patients in Iran: a theory-driven study.

J Hum Hypertens 2020 Oct 19. Epub 2020 Oct 19.

Department of Social & Behavioral Sciences, Brown University School of Public Health, Providence, RI, USA.

High blood pressure is becoming a universal epidemic for both developed and developing countries; it is one of the main public health problems all over the world. This research was conducted to assess blood pressure self-care among hypertensive patients in Iran. This cross-sectional analytic study was conducted on 527 patients with hypertension recruited from Zarandieh, Iran in 2018. Data were gathered using questionnaires assessing socio-demographic information, social support, health belief model (HBM) constructs (perceived benefits to healthy behavior, barriers to healthy behavior, perceived disease threat, self-efficacy to engage in healthy behavior, and cues to action), and self-care activities to address blood pressure. A stepwise multiple linear regression analysis was used to determine factors associated with self-care behaviors. Overall, 512 patients (215 men and 297 women) participated in this study. Participants who were married, and more educated engaged in more self-care behaviors. At least one-half of the patients (47.6%) demonstrated a moderate level of self-care behaviors with a mean score of self-care equal to 9.32 ± 3.6 (out of 18). All the elements of HBM and social support were significant predictors of self-care behaviors and self-efficacy was the strongest predictor, followed (in descending order) by perceived barriers, social support, perceived disease threat, and perceived benefits. Health education based on HBM, enhanced with attention to social support, may help patient enact healthier behaviors to reduce blood pressure.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41371-020-00429-9DOI Listing
October 2020

Endocrine Abnormalities in a Case of Neurodegeneration with Brain Iron Accumulation.

Mov Disord Clin Pract 2020 Aug 24;7(6):706-707. Epub 2020 Jun 24.

Department of Neurology Hazrat Rasool Hospital, Iran University of Medical Sciences Tehran Iran.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/mdc3.12990DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7396833PMC
August 2020

Seizures in Hereditary Aceruloplasminemia.

Can J Neurol Sci 2021 Jan 3;48(1):144-147. Epub 2020 Aug 3.

Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1017/cjn.2020.171DOI Listing
January 2021

Frequency and outcome of olfactory impairment and sinonasal involvement in hospitalized patients with COVID-19.

Neurol Sci 2020 Sep 12;41(9):2331-2338. Epub 2020 Jul 12.

ENT and Head & Neck Research center and Department, The Five Senses Institute, Hazrat Rasoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.

Background: Olfactory dysfunction has shown to accompany COVID-19. There are varying data regarding the exact frequency in the various study population. The outcome of the olfactory impairment is also not clearly defined.

Objective: To find the frequency of olfactory impairment and its outcome in hospitalized patients with positive swab test for COVID-19.

Methods: This is a prospective descriptive study of 100 hospitalized COVID-19 patients, randomly sampled, from February to March 2020. Demographics, comorbidities, and laboratory findings were analyzed according to the olfactory loss or sinonasal symptoms. The olfactory impairment and sinonasal symptoms were evaluated by 9 Likert scale questions asked from the patients.

Results: Ninety-two patients completed the follow-up (means 20.1 (± 7.42) days). Twenty-two (23.91%) patients complained of olfactory loss and in 6 (6.52%) patients olfactory loss was the first symptom of the disease. The olfactory loss was reported to be completely resolved in all but one patient. Thirty-nine (42.39%) patients had notable sinonasal symptoms while rhinorrhea was the first symptom in 3 (3.26%). Fifteen patients (16.3%) had a taste impairment. Patients with sinonasal symptoms had a lower age (p = 0.01). There was no significant relation between olfactory loss and sinonasal symptoms (p = 0.07).

Conclusions: Sudden olfactory dysfunction and sinonasal symptoms have a considerable prevalence in patients with COVID-19. No significant association was noted between the sinonasal symptoms and the olfactory loss, which may suggest that other mechanisms beyond upper respiratory tract involvement are responsible for the olfactory loss.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-020-04590-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7354355PMC
September 2020

The role of transcranial sonography in differentiation of dementia subtypes: an introduction of a new diagnostic method.

Neurol Sci 2021 Jan 8;42(1):275-283. Epub 2020 Jul 8.

Department of Neurology, Firoozgar Hospital, Iran University of Medical Sciences, Valadi St, Valiasr St, Tehran, Iran.

Purpose: Transcranial sonography (TCS) is increasingly used for the diagnosis of neurodegenerative disorders. We assessed the role of third ventricle width (TVW), midbrain area (MA), and midbrain circumference (MC) by TCS for diagnosis and differentiation of dementia.

Methods: A cross-sectional study was designed in 59 patients with dementia including 19 patients with Alzheimer's disease (AD), 10 Dementia with Lewy bodies (DLB), 23 Frontotemporal dementia (FTD) and 7 Vascular dementia (VaD), and 22 normal-cognition individuals. Both case and control groups were matched by age, sex, and educational level. The dementia patients were divided into two subgroups: cortical-dominant dementia (CDD) including AD and FTD; and subcortical-dominant dementia (SDD) including DLB and VaD. TCS was performed through a temporal window, in which the size of TVW and midbrain was measured by trans-thalamic and trans-mesencephalic planes, respectively.

Results: The mean TVW was 0.85 ± 0.3 cm and 0.66 ± 0.2 cm in dementia patients and the control group, respectively (p < 0.01). The MA/MC were smaller in dementia patients compared with the control group (p < 0.05 and p < 0.01). The TVW in CDD (p = 0.003) and SDD (p = 0.027), but only MA/MC in SDD (p < 0.05), was statistically different compared with the control group.

Conclusion: The measurement of TVW and midbrain size by TCS can be used for diagnosis and differentiation of dementia. Patients with CDD and SDD have larger TVW than the control group, whereas patients with SDD have smaller midbrain sizes.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-020-04566-4DOI Listing
January 2021

Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations.

Mol Genet Genomic Med 2020 07 8;8(7):e1240. Epub 2020 May 8.

School of Biology, College of Science, University of Tehran, Tehran, Iran.

Background: SPG11 mutations can cause autosomal recessive hereditary spastic paraplegia (ARHSP) and juvenile amyotrophic lateral sclerosis (JALS). Because these diseases share some clinical presentations and both can be caused by SPG11 mutations, it was considered that definitive diagnosis may not be straight forward.

Methods: The DNAs of referred ARHSP and JALS patients were exome sequenced. Clinical data of patients with SPG11 mutations were gathered by interviews and neurological examinations including electrodiagnosis (EDX) and magnetic resonance imaging (MRI).

Results: Eight probands with SPG11 mutations were identified. Two mutations are novel. Among seven Iranian probands, six carried the p.Glu1026Argfs*4-causing mutation. All eight patients had features known to be present in both ARHSP and JALS. Additionally and surprisingly, presence of both thin corpus callosum (TCC) on MRI and motor neuronopathy were also observed in seven patients. These presentations are, respectively, key suggestive features of ARHSP and JALS.

Conclusion: We suggest that rather than ARHSP or JALS, combined ARHSP/JALS is the appropriate description of seven patients studied. Criteria for ARHSP, JALS, and combined ARHSP/JALS designations among patients with SPG11 mutations are suggested. The importance of performing both EDX and MRI is emphasized. Initial screening for p.Glu1026Argfs*4 may facilitate SPG11 screenings in Iranian patients.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.1240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336765PMC
July 2020

and hereditary spastic paraplegia: a novel variant in an Iranian family and overview of the genotype-phenotype correlation.

Int J Neurosci 2020 May 13:1-13. Epub 2020 May 13.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

Purpose: SPG76 is one of the rare forms of hereditary spastic paraplegia (HSP) which causes by mutations in the gene. The mode of inheritance of SPG76 is autosomal recessive (AR) and so far, only 24 families and 25 mutations in this gene have been reported worldwide. These mutations have been associated with a spectrum of disorders from pure HSP to spastic ataxia. HSP genetically is one of the most heterogeneous neurological disorders and to date, 79 types of HSP (SPG1-SPG79) have been identified, however, it has been suggested that many HSP-genes, particularly in AR-HSPs, remained unknown. AR-HSPs clinically overlap with other neurodegenerative disorders, making an accurate diagnosis of the disease difficult. Therefore, in addition to clinical examination, a high throughout genetic method like whole exome sequencing (WES) may be necessary for the diagnosis of this type of neurodegenerative disorders.

Methods And Results: Herein, we present the clinical features and results of WES in the first Iranian family with a novel variant, c.C853T:p.R285* and pure HSP.

Conclusion: Some of the previous studies have mentioned that the "spasticity-ataxia phenotype might be conducted to the diagnosis of SPG76" but recently the number of pure HSP patients with mutation is increasing. The present study also expands the mutation spectrum of pure -related SPG76; emphasizing that screening is required in both pure HSP and spasticity-ataxia phenotypes. As noted in some other literature, we suggest the clinical spectrum of this disorder to be considered as "-associated neurodegeneration".
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/00207454.2020.1763344DOI Listing
May 2020

Diplopia in Progressive Supranuclear Palsy.

Mov Disord Clin Pract 2020 Feb 22;7(2):232-233. Epub 2020 Jan 22.

Department of Neurology Hazrat Rasool Hospital, Iran University of Medical Sciences Tehran Iran.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/mdc3.12890DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7011663PMC
February 2020

Late-Onset Mitochondrial Membrane Protein-Associated Neurodegeneration With Extensive Brain Iron Deposition.

Mov Disord Clin Pract 2020 Jan 30;7(1):120-121. Epub 2019 Nov 30.

Department of Neurology Hazrat Rasool Hospital, Iran University of Medical Sciences Tehran Iran.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/mdc3.12868DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6962686PMC
January 2020

Persistent dystonia and basal ganglia involvement following metronidazole induced encephalopathy.

Neurol Sci 2020 Apr 25;41(4):957-959. Epub 2019 Oct 25.

Pediatric Neurology Division, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-019-04091-zDOI Listing
April 2020

Cerebral peri-lead edema following deep brain stimulation surgery.

Neurol Sci 2020 02 29;41(2):473-475. Epub 2019 Aug 29.

Department of Neurology, Rasoul Akram Hospital, Iran University of Medical Science, Tehran, Iran.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-019-04042-8DOI Listing
February 2020

Gait Impairment in Myoclonus-Dystonia (DYT-).

Tremor Other Hyperkinet Mov (N Y) 2019 2;9. Epub 2019 Aug 2.

Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, IR.

Background: Myoclonus-dystonia usually presents variable combination of myoclonus and dystonia mainly affecting the neck and arms, but leg involvement, especially as the presenting sign, is not common.

Case Report: A 29-year-old lady with a heterozygous mutation in Epsilon-sarcoglycan () gene is presented with rapid jerks of the right leg interfering with walking. She has also manifested dystonic posture and jerks of the trunk and proximal upper limbs.

Discussion: Although it is not typical, leg involvement could be a manifestation of myoclonus-dystonia either at presentation or during disease progression.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.7916/tohm.v0.656DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6691910PMC
January 2020

Gelastic Cataplexy in Niemann Pick Type C.

Mov Disord Clin Pract 2019 Jul 26;6(6):498-499. Epub 2019 Jun 26.

Department of Neurology Hazrat Rasool Hospital, Iran University of Medical Sciences Tehran Iran.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/mdc3.12786DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6660230PMC
July 2019

Tongue Protrusion Dystonia in Pantothenate Kinase-Associated Neurodegeneration.

Pediatr Neurol 2020 02 13;103:76-78. Epub 2019 Jun 13.

Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran. Electronic address:

Background: Tongue protrusion dystonia is an uncommon focal dystonia involving the lingual muscles. Causes of tongue protrusion dystonia include tardive dystonia, posthypoxic dystonia, neuroacanthocytosis, pantothenate kinase-associated neurodegeneration, and Lesch-Nyhan syndrome.

Method: We summarize three children with pantothenate kinase-associated neurodegeneration and tongue protrusion dystonia. All three patients underwent careful neurological examination, brain magnetic resonance imaging, and genetic testing.

Results: Tongue protrusion dystonia was a prominent and disabling symptom in all three patients. Brain magnetic resonance imaging revealed a typical eye of the tiger sign in all patients. Two patients had the same genetic mutation (c.1168 A>T mutation, p.I390F).

Conclusions: Tongue protrusion dystonia may be a clue to the underlying etiology of dystonia, including hereditary forms of dystonia. Among them, pantothenate kinase-associated neurodegeneration is an important cause, especially in children.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2019.06.004DOI Listing
February 2020

Deep brain stimulation in status dystonicus caused by anti-NMDA receptor encephalitis.

Parkinsonism Relat Disord 2019 09 20;66:255-257. Epub 2019 Jul 20.

Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran. Electronic address:

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.parkreldis.2019.07.023DOI Listing
September 2019

Midbrain area for differentiating Parkinson's disease from progressive supranuclear palsy.

Clin Neurol Neurosurg 2019 Aug 5;183:105383. Epub 2019 Jun 5.

Neurology department of Iran University of Medical Sciences, Tehran, Iran. Electronic address:

Objectives: We aimed to investigate the values of midbrain area in diagnosing Parkinson's Disease (PD) and progressive supranuclear palsy (PSP) by using transcranial sonography (TCS). Disease duration effect on brain sonographic findings could decrease the accuracy of TCS in PD and PSP patients. We reduced the disease duration effect on sonographic differences found between PD and PSP patients by using multivariate analysis.

Patients And Methods: Patients with clinical diagnosis of PSP and PD were recruited. We used SonoSite Edge II Ultrasound system to measure midbrain area, diameter of third ventricle and substantia nigra echogenicity. Diagnostic value of each measured area in sonography was estimated regarding its power for diagnosing PD or PSP. Independent sample t-test, Regression analysis and receiver operating characteristic (ROC) curve were performed using SPSS software.

Results: Of 35 patients, 18 were PD and 17 PSP cases. The mean midbrain area was 4.86 ± 0.71cm in PD patients and 3.61 ± 0.85cm in those with PSP (P < 0.005). Regression for reducing the effect of disease duration on midbrain area variances between patients with PD and PSP revealed a significant P value (P < 0.005, Adjusted R = 0.36). The sensitivity and specificity of midbrain area in diagnosing PD were 83.3% and 70.6% respectively. The sensitivity of the third ventricle size in diagnosing PSP was 82% although its specificity was 62%.

Conclusion: Midbrain area in patients with PD was wider than those with PSP that was not affected by disease duration. Midbrain area was the most accurate index for diagnosing PD by TCS although third ventricle size was the most sensitive one for diagnosing PSP.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clineuro.2019.105383DOI Listing
August 2019

Natural flavonoids for the prevention of colon cancer: A comprehensive review of preclinical and clinical studies.

J Cell Physiol 2019 12 13;234(12):21519-21546. Epub 2019 May 13.

Pharmaceutical Sciences Research Center, Kermanshah University of Medical Sciences, Kermanshah, Iran.

Flavonoids comprise a group of natural polyphenols consisting of more than 5,000 subtypes mostly existing in fruits and vegetables. Flavonoids consumption could potentially attenuate the incidence and recurrence risk of colorectal cancers through their antiperoxidative, antioxidant, and anti-inflammatory effects. In addition, these compounds regulate the mitochondrial function, balance the bacterial flora and promote the apoptosis process in cancerous cells. However, some previous data failed to show the effectiveness of flavonoids in reducing the risk of colorectal cancer. In this study, we have reviewed the efficacy of different flavonoids subtypes on the risk of colon cancer and molecular mechanisms involved in this process in both clinical and animal studies. In addition, we tried to elucidate the potential synergy between these compounds and current colorectal cancer treatments.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/jcp.28777DOI Listing
December 2019

A novel homozygous variation in the gene in two Persian siblings with atypical pantothenate kinase associated neurodegeneration.

Neurol Int 2019 Mar 11;11(1):7959. Epub 2019 Mar 11.

Iran University of Medical Sciences, Tehran.

Pantothenate Kinase-associated Neurodegeneration (PKAN) is an autosomal recessive disorder that is caused by variation in pantothenate kinase-2 gene () gene on chromosome 20. The common presentation of this disease includes progressive dystonia, Parkinsonism, retinopathy, cognitive impairment, and spasticity. The typical magnetic resonance imaging finding is sign in globus pallidus and not pathogenic and not found in all patients. In the present study, we describe two siblings who have a novel variation of the gene. These patients with the same genotype, have different ages at the onset of disease and also the various severity of the disease. The description of these cases helps to understand this disease, its symptoms, pathogenesis, and its treatment.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.4081/ni.2019.7959DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444562PMC
March 2019

Transcranial sonography in carriers of Gaucher disease.

Iran J Neurol 2018 Jul;17(3):145-148

Department of Neurology, Hazrat-e-Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran.

Glucocerebrosidase (GBA) mutation is the most common genetic risk factor in Parkinson's disease (PD). Transcranial sonography (TCS) shows increased substantia nigra (SN) echogenicity in both idiopathic and genetic forms of PD. The goal of this study was to compare maximal area of SN hyperechogenicity (aSNmax) and diameter of third ventricle (DTV) between GBA mutation carriers and healthy controls. Twenty-six carriers of GBA mutation and twenty-six healthy controls underwent TCS. The aSNmax and the DTV were measured. Mini-mental status examination (MMSE) and demographic data of the subjects were recorded, too. Mean aSNmax in GBA mutation carriers was significantly higher (0.31 ± 0.06 cm) than controls (0.16 ± 0.04 cm). Moreover, DTV was significantly higher in GBA mutation carriers group (3.98 ± 0.90 vs 3.29 ± 0.56 cm). Increased SN echogenicity and increased third ventricle diameter in GBA mutation carriers may be caused by alterations in iron metabolism with reference to their genetic status.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6420695PMC
July 2018

Raphe nuclei echogenicity changes in obsessive-compulsive disorder.

Med J Islam Repub Iran 2018 24;32:91. Epub 2018 Sep 24.

Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran.

Dysregulation of serotonin system is hypothesized to play the main role in the etiology of obsessive-compulsive disorder (OCD). Transcranial sonography (TCS) is a helpful noninvasive and low-cost tool for the assessment of subcortical brain architectures, mainly basal nuclei, cerebellar central structures, and midbrain. In this study, an ultrasound assessment was performed for a sample of the patients with OCD and healthy control group to evaluate echogenicity of midbrain raphe nuclei (RN). A total of 35 patients with OCD and 35 healthy controls of similar age and sex entered the study. Semi-structured clinical interview was performed according to the DSM IV-TR criteria to verify OCD. Echogenicity of the midbrain RN was assessed by an experienced neurologist applying TCS. The echogenicity of the 2 groups was compared using chi- square test. SPSS software (version 18, PASW) was used for statistical analysis and p-value of less than 0.05 was considered significant. In this study, 15 OCD patients (42.9%) and 11 (31.4%) controls showed decreased echogenicity of midbrain RN. Also, the results of the chi-square test showed that the midbrain RN echogenicity was not significantly lower in patients with OCD compared to the control group (p= 0.322). Although decreased midbrain RN echogenicity is a characteristic of patients with major depression, it was not shown in OCD patients in this study, which can be explained by the involvement of RN projections rather that RN serotoninergic neurons.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.14196/mjiri.32.91DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376999PMC
September 2018

Diagnostic delay in Parkinson's disease caused by PRKN mutations.

Parkinsonism Relat Disord 2019 06 10;63:217-220. Epub 2019 Jan 10.

Edmond J. Safra Program in Parkinson's Disease, Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, UHN, Toronto, Ontario, Canada; Division of Neurology, University of Toronto, Toronto, Ontario, Canada; Krembil Brain Institute, Toronto, Ontario, Canada. Electronic address:

Objective: To confirm that there is a diagnostic delay in Parkin-related Parkinson Disease and to explore possible factors causing such a delay.

Methods: We retrospectively analyzed our patients with mutations in the parkin RBR E3 ubiquitin protein ligase gene (PRKN). We collected a total of 34 patients and focused on 18 cases (14 homozygous, 4 compound heterozygous). An arbitrary cut-off of 10 years from disease onset to diagnosis was considered to define patients with delayed diagnosis.

Results: Eight of 18 cases had a significant delay in their diagnosis (25.3 ± 17 years). By comparing patients with and without a delayed diagnosis and subsequently, comparing these groups to a group of young onset PD negative for mutations of PRKN, SNCA, DJ1, PINK1, LRRK2, GBA, and ATP13A2, we identified a specific phenotype associated with a diagnostic delay: young age, lack of tremor, and involvement of lower limbs (particularly dystonia affecting gait) at the time of disease onset.

Conclusions: Our findings emphasize the diverse phenotypes associated with PRKN mutations and the related diagnostic challenges they present.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.parkreldis.2019.01.010DOI Listing
June 2019

Giant Intracranial Aneurysm Mimicking Brain Tumor.

Neurohospitalist 2019 Jan 21;9(1):51. Epub 2018 Mar 21.

Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1177/1941874418764572DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327240PMC
January 2019

Deep brain stimulation for pantothenate kinase-associated neurodegeneration: A meta-analysis.

Mov Disord 2019 02 11;34(2):264-273. Epub 2019 Jan 11.

Division of Neurosurgery, Department of Surgery, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.

Background: Pantothenate kinase-associated neurodegeneration is a rare autosomal-recessive disorder, characterized by progressive neurodegeneration associated with brain iron accumulation. DBS has been trialed to treat related movement disorders, particularly dystonia. The objective of this study was to determine the outcome and safety of DBS for pantothenate kinase-associated neurodegeneration.

Methods: We performed a meta-analysis using independent participant data (n = 99) from 38 articles. Primary outcome was change in movement and disability scores of the Burke-Fahn-Marsden Dystonia Rating Scale 1 year postoperatively. Secondary outcomes were response rate and complications.

Results: Patients with classic-type (n = 58) and atypical-type (n = 15) pantothenate kinase-associated neurodegeneration were operated on at a median age of 11 and 31 years, respectively (P < 0.001). GPi was primarily targeted (n = 87). Mean dystonia movement score improved 1 year following GPi-DBS (-26%; 95% confidence interval, -37% to -15%), particularly in atypical versus classic cases (-45% vs -16%; P < 0.001). At least 30% improvement was observed in 34% of classic versus 73% of atypical cases (P = 0.04). Higher preoperative score and atypical type predicted larger improvement. GPi-DBS improved dystonia disability score in atypical (-31%; 95% confidence interval, -49% to -13%) but not classic (-5%; 95% confidence interval, -17% to 8%) cases. Prevalence of surgical infections (6%) and hardware failure (7%) was similar to other dystonia etiologies. Two patients died within 3 months. There was insufficient data to describe outcome > 1 year following GPi-DBS or with other DBS targets. Overall, small sample sizes limited generalizability.

Conclusions: This meta-analysis provides level 4 evidence that GPi-DBS for pantothenate kinase-associated neurodegeneration may improve dystonia movement scores in classic type and atypical type and disability scores in atypical type 1 year postoperatively. © 2019 International Parkinson and Movement Disorder Society.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.27563DOI Listing
February 2019

Unusual gait disorders: a phenomenological approach and classification.

Expert Rev Neurother 2019 02 30;19(2):119-132. Epub 2018 Dec 30.

a Edmond J. Safra Program in Parkinson's Disease, Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital and Division of Neurology, UHN, Division of Neurology , University of Toronto , Toronto , ON , Canada.

Introduction: Gait impairment is a very common problem in clinical practice. Multiple classifications of gait disorders are available based on anatomy, etiology, pathology and phenomenology. These classifications provide a diagnostic guide but do not clearly explain the pathophysiology of some gait disorders, which can sometimes hinder the diagnostic process. In this context, unusual gait disorders become an even more difficult clinical challenge. Areas covered: The scientific and non-scientific literature contains illustrative descriptions of unusual gait disorders based on their predominant signs and/or comparisons with normal and abnormal zoological and folkloric patterns. Unusual gait disorder phenomenology can be carefully deconstructed in order to achieve an integral approach. We present a pragmatic, phenomenological approach to various unusual gait disorders and highlight key features underlying their phenotypes. We also propose unifying terminology to facilitate diagnosis and academic communication. Expert commentary: Advanced gait analysis, neurophysiological and neuroimaging techniques have allowed for us to recognize that locomotion is a complex motor behavior that requires simultaneous integration of multiple neurological and non-neurological systems. A phenomenological approach such as the one proposed in this review could be useful while those objective techniques become more widely available in clinical practice.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/14737175.2019.1562337DOI Listing
February 2019