Publications by authors named "Gholamali Shahidi"

Article Synopsis
  • - Neurodegeneration with Brain Iron Accumulation (NBIA) is a rare hereditary disease, and this study aimed to assess how long patients can maintain mobility and survive, analyzing data from 122 patients over 11 years.
  • - The findings highlighted significant survival and ambulation probabilities among different subtypes of NBIA, with Kufor Rakeb Syndrome (KRS) showing the best outcomes, while classical PKAN and MPAN presented similar challenges in mobility loss over time.
  • - Spasticity was identified as the most critical factor associated with increased mortality, indicating that managing this symptom could potentially improve patient outcomes in NBIA.
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Background: Neurodegenerative disorders such as Alzheimer's and Parkinson's disease inflict economic and health burdens on societies. Alzheimer's disease (AD), the most prevalent form of dementia, is accompanied by progressive degradation of memory, decision-making, and judgment. Parkinson's disease (PD) is characterized by resting tremor, rigidity, bradykinesia, and loss of balance.

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Introduction: Finding a non-invasive and repeatable tool has been recommended to make an accurate diagnosis of Alzheimer's disease (AD) and Parkinson's disease (PD).

Methods: 70 volunteers participated in three groups: 24 with mild dementia of AD, 24 in the first and second stages of PD, and 22 healthy controls. After valuing the scores of cognitive tests, the salivary levels of phosphorylated tau (p-tau), total alpha-synuclein (α-syn), and beta-amyloid 1-42 (Aβ)‏‎ proteins have been evaluated.

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The possible differential diagnoses for children presenting with kyphoscoliosis, skeletal deformities and ophthalmoplegia are diverse. We present 11-year-old identical twins with these symptoms, with interesting etiological concern for those practicing in the fields of neurology, pediatrics, spine surgery and related specialties. A new presentation for a rare genetic condition was the final diagnosis for our patients.

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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.

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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.

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Nowadays, many neurological conditions, including Parkinson's disease (PD), are treated with deep brain stimulation (DBS). Life-threatening consequences can occur from DBS hardware failure or sudden implantable pulse generator (IPG) battery depletion. This issue may potentially worsen in concomitance with medical or infectious conditions, requiring stronger emergency management.

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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.

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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.

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Objectives: Tourette syndrome (TS) is a neuropsychiatric disorder characterized by childhood onset motor and phonic tics. In refractory cases, deep brain stimulation (DBS) with different targets including anteromedial Globus pallidus (AM-GPi) looks promising.

Patients And Methods: Patients with TS diagnosed according to DSM-IV TR criteria with severe medication-recalcitrant disease referred to our DBS clinic, were recruited for this study.

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Background: Akathisia is an inner urge to move a body area with an objective motor component of restlessness. Tardive akathisia (TA) is usually bilateral with a predominant lower-body presentation. We report two patients with an asymmetrical predominantly upper-body involvement.

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Neurodegeneration with brain iron accumulation (NBIA) includes a rare and heterogeneous group of disorders characterized by iron deposition in the basal ganglia. Pantothenate kinase-associated neurodegeneration (PKAN) is the most common NBIA and has 2 main presentations: typical and atypical, the latter rarely presents with tremor. Our reported patients underwent full neurologic examination, standard brain magnetic imaging, and genetic testing for PKAN.

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Various neurodegenerative disorders share some clinical features that sometimes renders differential diagnosis challenging. Genetic-based classification also has limitations as mutations in the same gene are sometimes associated with different clinically based diagnoses. In this light, we screened the C19orf12 neurodegeneration with brain iron accumulation (NBIA) causing gene and the C9orf72 intronic expansion mutation that is cause of amyotrophic lateral sclerosis in 186 Iranian Parkinson's disease (PD) patients.

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Aims: Parkinson's disease (PD) is one of the most common neurodegenerative disorders; its etiology includes both genetic and environmental factors and their interactions. The ZNF512B, SLC41A1, and ALDH2 genes have recently been identified as contributing to PD. In this study we investigated the association of alleles of these genes with PD in the Iranian population.

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Background: Subthalamic nucleus (STN) stimulation is the treatment of choice for carefully chosen patients with idiopathic Parkinson's disease (PD) and refractory motor fluctuations. We evaluated the value of intraoperative electrophysiology during STN deep brain stimulation (DBS) procedures in refining the anatomically-defined target.

Methods: We determined the spatial distance between the anatomical and physiological targets along x, y and z axes in 50 patients with PD who underwent bilateral subthalamic nucleus DBS surgery.

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Neurological disorders include a wide variety of mostly multifactorial diseases related to the development, survival, and function of the neuron cells. Single-nucleotide polymorphisms (SNPs) have been extensively studied in neurological disorders, and in a number of instances have been reproducibly linked to disease as risk factors. The RIT2 gene has been recently shown to be associated with a number of neurological disorders, such as Parkinson's disease (PD) and autism.

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To evaluate voice of Iranian patients with Parkinson's disease (PD) and find any relationship between motor disabilities and acoustic voice parameters as speech motor components. We evaluated 27 Farsi-speaking PD patients and 21 age- and sex-matched healthy persons as control. Motor performance was assessed by the Unified Parkinson's Disease Rating Scale part III and Hoehn and Yahr rating scale in the "on" state.

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Article Synopsis
  • DNA variations in the fibroblast growth factor 20 gene, particularly the rs12720208 SNP, have been studied for their potential link to Parkinson's disease (PD).
  • Previous attempts to replicate the association in various populations were unsuccessful.
  • In this study involving 520 PD patients and 520 healthy controls from Iran, significant differences in allele and genotype frequencies were found, indicating that rs12720208 might be a risk factor for PD specifically in the Iranian population.
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