Thoracic paraspinal muscle concentric needle electrode jitter analysis in electrophysiological diagnosis of ALS.

Objectives: Jitter analysis with concentric needle electrode of the thoracic 9 (T9) paraspinal muscle (PM), where the needle EMG examination at rest is difficult, was performed in both amyotrophic lateral sclerosis (ALS) patients and the controls.

Methods: For the T9 PM, both upper limit for mean and individual mean consecutive difference (MCD) values and spike numbers were calculated according to jitter values of pairs from controls. In addition to the descriptive statistics, differences between two groups and T9 PM needle EMG and jitter analysis findings of patients were compared (p = 0.

A nationwide epidemiological study of myasthenia gravis in Turkey.

Background: Variable incidence and prevalence rates of myasthenia gravis (MG) have been reported over time from different geographical regions. We aimed to determine incidence and prevalence of MG in Turkey and contribute to the development of proper national health policies.

Methods: Patients with G70.

Polyneuropathy With Motor Conduction Block in POEMS.

Introduction/aims: Polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (POEMS) syndrome is a paraneoplastic syndrome due to an underlying plasma cell dyscrasia. Polyneuropathy in POEMS syndrome may present as a subacute or chronic symmetric sensorimotor polyneuropathy, with electrophysiological features suggesting demyelination. Motor conduction block (CB), which is mostly seen in chronic inflammatory demyelinating polyneuropathy (CIDP), is considered an atypical electrophysiological feature in POEMS syndrome.

Lack of habituation in somatosensory cortex but not in visual cortex of ALS patients.

Objective: Amyotrophic lateral sclerosis (ALS) is a multisystem degenerative disease with extra-motor components. In ALS, there is also hyperexcitability of extra-motor areas. Habituation is defined as ''a response decrement" caused by repeated stimulations.

Recurrent simultaneous central nervous system demyelination with possible peripheral demyelination / nodopathy in a seronegative patient.

Combined central and peripheral demyelination (CCPD) is a rare disease entity. Onset with the simultaneous central nervous system (CNS) and peripheral nervous system (PNS) involvement and its recurrence are exceptional. Anti-neurofascin antibodies have been shown to be present in up to 70% of cases, yet seronegative patients also exist.

Effect of Follicular T Helper and T Helper 17 Cells-Related Molecules on Disease Severity in Patients with Myasthenia Gravis.

Introduction: Contribution of T helper 1 and 2 cells-related cytokines to pathogenesis of myasthenia gravis (MG) is well known. Recently, the contribution of follicular T helper (Tfh) and T helper 17 cells-related molecules to the pathogenesis has gained importance. In this study, we aimed to evaluate the changes in Tfh- and Th17-related molecules before and after rescue therapy in patients with myasthenic crisis (cMG) and to reveal the molecular differences between stable MG and cMG patients.

Clinical and laboratory remission with rituximab in anti-MuSK-positive myasthenia gravis.

Background: Increasing data are available on the use and efficacy of rituximab (RTX) in patients with anti-muscle-specific tyrosine kinase (MuSK)-positive myasthenia gravis (MG), especially those steroid-dependent or unresponsive to traditional immunotherapies.

Aims: We aimed to evaluate the clinical characteristics and treatment responses of adult patients with generalized anti-MuSK-positive MG treated with RTX.

Methods: We retrospectively recruited 16 patients who were on RTX, between January 2010 and September 2023.

Differentiating recurrent Guillain-Barre syndrome and acute-onset chronic inflammatory polyneuropathy: literature review.

Guillain-Barre syndrome (GBS) is an acute-onset immune-mediated polyneuropathy characterized by ascending symmetrical muscle weakness, diminished reflexes, and sensory symptoms. While GBS typically follows a monophasic course, some patients experience treatment-related fluctuations or recurrences, posing diagnostic challenges in distinguishing GBS from acute-onset chronic inflammatory polyneuropathy (A-CIDP). A-CIDP, may present acutely, simulating GBS, with a nadir in less than 8 weeks, subsequently evolving into a chronic or relapsing course.

Patient with recurrent neuralgic amyotrophy; right brachial plexitis and left posterior interosseous neuropathy.

Neuralgic amyotrophy (NA), also known as Parsonage-Turner syndrome or idiopathic brachial plexopathy, is a multifocal inflammatory neuropathy that usually affects the upper limbs. The classic picture is a patient with acute onset of asymmetric upper extremity symptoms, excruciating pain, rapid onset of multifocal paresis often involving winged scapula, and a monophasic course of the disease.We present an unusual case of recurrent NA characterized first by right brachial plexitis and then isolated left posterior interosseous nerve palsy.

IgG4-related pachymeningitis-Long term follow up and outcome of six patients.

Objective: Our understanding of IgG4-RD and pachymeningitis has grown substantially, but the optimal approach for diagnosis, management, and long-term outcomes is still an area of uncertainty.

Methods: HUVAC is a database for IgG4-RD patients, this database was retrospectively evaluated for pachymeningeal disease. Demographic, clinical, serological, imaging, histopathological data, and treatment details were re-interpreted in patients with pachymeningitis.

The evaluation of small fibers in multiple sclerosis.

Background: Dysesthetic or ongoing extremity pain is a common symptom in all multiple sclerosis (MS) types. Although the pathology of the disease is the demyelination of central neurons, the patients may also complain of neuropathic pain in distal extremities that is generally related to A-delta and C fiber dysfunction. It is not known whether thinly myelinated and unmyelinated fibers are affected in MS patients.

Nusinersen for adults with spinal muscular atrophy.

Introduction: Nusinersen was effective in improving motor function and survival in infantile and childhood-onset spinal muscular atrophy (SMA), and the value of real-world experiences in adult SMA patients increase gradually. Here, we present our clinical experience in adult SMA patients treated with nusinersen according to CHERISH study.

Material And Methods: Thirty-two SMA patients treated with nusinersen were included in the study.

Immunotherapy Provides Electrophysiological Recovery and Excellent Clinical Response in Sjogren's Syndrome-Linked Quite Severe Autonomic Neuropathy.

Introduction: The autonomic system is frequently affected in Sjogren's syndrome (SS), but presentation with severe autonomic neuropathy is infrequent. Herein, we present a patient with primary SS-linked autonomic neuropathy, which is significantly clinic and electrophysiological responsive to immunotherapy.

Case Report: A 29-year-old female patient was admitted to our neurology department with recurrent syncope, postural light-headedness, and weight loss.

Bilateral Wrist Drop Caused by Non-invasive Continuous Monitoring of Blood Pressure During Severe COVID-19 Pneumonia: A Case Report.

Compressive peripheral nerve injury can be observed as a long-term outcome during the treatment of severe COVID-19 pneumonia. In this case study, we report a man with bilateral wrist drop due to prolonged noninvasive blood pressure monitoring. A 52-year-old man who had undergone invasive ventilation because of severe COVID-19 pneumonia was admitted with bilateral loss of function of the wrist, digital, and thumb extensors and hypoesthesia in the dorsum of the forearm and hand.

The functional and structural evaluation of small fibers in asymptomatic carriers of TTR p.Val50Met (Val30Met) mutation.

Therapeutic advances in hereditary amyloid transthyretin (ATTRv) amyloidosis with polyneuropathy extended life expectancy and delayed symptom progression especially in patients with early disease. Thus, detection and monitoring of asymptomatic carriers gained importance. However, there is still limited consensus on genetic screening of ATTRv-polyneuropathy patients' family members and diagnostic tests that must be done in the follow-up.

Neuropathic Pain Frequency in Neurology Outpatients: A Multicenter Study.

Introduction: Neuropathic pain is common, but the frequency of misdiagnosis and irrational treatment is high. The aim of this study is to evaluate the rate of neuropathic pain in neurology outpatient clinics by using valid and reliable scales and review the treatments of patients.

Methods: The study was conducted for 3 months in eleven tertiary health care facilities.

A case with Neurofascin-155 IgG antibody-associated combined central and peripheral demyelination: Successfully treated with anti-CD20 monoclonal antibody.

Combined central and peripheral demyelination (CCPD) is an infrequent entity in which demyelination is observed in central (CNS) and peripheral nervous systems (PNS). Potentially, it may develop due to a shared immune mechanism or possible co-occurrence between two unrelated demyelinating diseases such as multiple sclerosis (MS) and chronic inflammatory demyelination polyneuropathy (CIDP). A small number of CIDP patients have autoantibodies against nodal and paranodal proteins such as neurofascin155 (NF155).

Two distinct skeletal muscle microRNA signatures revealing the complex mechanism of sporadic ALS.

Skeletal muscle pathology is thought to have an important role in the onset and/or progression of amyotrophic lateral sclerosis (ALS), which is a neurodegenerative disorder characterized by progressive muscle weakness. Since miRNAs are recognized as important regulatory factors of essential biological processes, we aimed to identify differentially expressed miRNAs in the skeletal muscle of sporadic ALS patients through the combination of molecular-omic technologies and bioinformatic tools. We analyzed the miRnome profiles of skeletal muscle biopsies acquired from ten sALS patients and five controls with Affymetrix GeneChip miRNA 4.

Cognitive impairment and affective disorder: A rare presentation of cerebellar stroke.

The awareness of the "Cerebellar Cognitive Affective Syndrome" (CCAS) as a clinical entity is emerging. The CCAS is characterized by impaired executive functions, linguistic skills, visuospatial cognition and personality change. Here we report a 56-year-old, male teacher who developed acute psychomotor retardation, low energy level, infrequent speech, and mild cognitive decline.

The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.

Background: The genetic and epidemiological features of hereditary ataxias have been reported in several populations; however, Turkey is still unexplored. Due to high consanguinity, recessive ataxias are more common in Turkey than in Western European populations.

Objective: To identify the prevalence and genetic structure of hereditary ataxias in the Turkish population.

A combined clinical and computational approach to understand the SOD1-mediated pathogenesis of rapidly progressive familial amyotrophic lateral sclerosis.

Here, we aim to provide a comprehensive clinical and biomolecular description of familial amyotrophic lateral sclerosis (fALS) in a 25-year-old female patient with respect to the SOD1 genotype. The clinical diagnosis of the disease was based on family history, neurological examination, electroneurophysiological studies, and revised El Escorial criteria. The heterozygous presence of the A4T mutation in the proband was confirmed by PCR coupled with Sanger sequencing of exon 1 of the SOD1 gene.

Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives.

Metachromatic leukodystrophy (MLD) is a glycosphingolipid storage disease caused by deficiency of the lysosomal enzyme arylsulfatase A (ASA) or its activator protein saposin B. MLD can affect all age groups in severity varying from a severe fatal form to milder adult onset forms. Diagnosis is usually made by measuring leukocyte ASA activity.