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Neurona
Published by Perhimpunan Dokter Spesialis Neurologi Indonesia
ISSN : 02166402     EISSN : 25023748     DOI : https://doi.org/10.52386/neurona
Core Subject : Health, Science,
Health Professions Medicine & Pharmacology Neuroscience
Neurona merupakan satu-satunya jurnal yang memuat perkembangan penelitian dan kasus terbaru bidang neurosains oleh Perhimpunan Dokter Spesialis Saraf (PERDOSSI) Pusat di Indonesia. Jurnal ini diterbitkan bulan Maret, Juni, September dan Desember. Bidang studi cakupan NEURONA meliputi: Stroke dan Pembuluh darah Neurotrauma Neuroonkologi Neuro Infeksi Neuro Behavior Neurorestorasi Neuropediatri Gangguan Tidur Nyeri Kepala Neurootologi Neuro Intervensi Neuro Intensif Neurogeriatri Gangguan Gerak Epilepsi Neuro Epidemiologi
Arjuna Subject : Kedokteran - Neurologi Klinis
Articles 309 Documents
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ATTRv MIMICKING CIDP: INSIGHTS FROM TWO GENETICALLY CONFIRMED PATIENTS IN A NATIONAL TOP REFERRAL HOSPITAL Indrawati, Luh Ari; Hadiweijaya, Antonia; Wiguna, Fikry Ichsan; Parindra, Cakra; Safri, Ahmad Yanuar; Wiratman, Winnugroho; Fadli, Nurul; Harsono, Adrian Ridski; Hakim, Manfaluthy; Octaviana, Fitri
Majalah Kedokteran Neurosains Perhimpunan Dokter Spesialis Saraf Indonesia Vol 42 No 1 (2025): Volume 42, No 1 - Desember 2025
Publisher : PERDOSNI

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.52386/neurona.v42i1.803

Abstract

ATTRv is a treatable autosomal dominant hereditary devastating disease caused by pathogenic variants in TTR gene leading to amyloid deposition in peripheral nerves. TTR stabilizer or gene silencing drugs are able to reduce amyloid formation. It can mimic chronic inflammatory demyelinating polyneuropathy (CIDP) but does not respond to immunotherapy, highlighting the importance of accurate diagnosis. We present two Indonesian male patients initially misdiagnosed with CIDP. The first case developed progressive distal weakness, sensory loss, profound autonomic dysfunction including orthostatic hypotension, erectile dysfunction and significant weight loss. Nerve conduction studies revealed demyelinating sensory neuropathy with mixed motor involvement and autonomic testing showed absent SSR and abnormal HRV. The patient received supportive care, including fludrocortisone for orthostatic hypotension. The second case experienced distal sensory-motor neuropathy with additional features of erectile dysfunction, urinary and fecal incontinence and recurrent painless heel blisters. Nerve conduction studies showed axonal sensorimotor polyneuropathy, and autonomic testing along with SSEP confirmed widespread autonomic and sensory pathway involvement. Serum protein electrophoresis in both cases revealed elevated gamma globulin without monoclonal spikes. Whole exome sequencing in both cases revealed the same pathogenic TTR variant (c.148G>A, p.Val50Met), confirming the diagnosis of ATTRv. CIDP lacks specific biomarkers and can mimic various neuropathies. In this case, distal predominant weakness and profound autonomic dysfunction were red flags for alternative diagnosis, such as ATTRv. Progressive sensory-motor neuropathy, atypical CIDP with autonomic involvement and unexplained weight loss warrant suspicion of ATTRv. Differential diagnoses should include diabetic neuropathy, autoimmune nodopathy, MAG neuropathy and monoclonal gammopathy-associated neuropathies.
THE RELATIONSHIP OF LEUKOARAIOSIS WITH CLINICAL OUTCOMES OF STROKE FUNCTIONAL AND COGNITIVE FUNCTION IN THROMBOSIS TYPE ISCHEMIC STROKE PATIENTS Lailatul Fadhila
Majalah Kedokteran Neurosains Perhimpunan Dokter Spesialis Saraf Indonesia Vol 42 No 1 (2025): Volume 42, No 1 - Desember 2025
Publisher : PERDOSNI

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.52386/neurona.v42i1.804

Abstract

Introduction: Leukoaraiosis is a white matter disorder of the brain that can be detected through head CT scan or MRI, associated with worse clinical outcomes. A greater volume of leukoaraiosis is associated with a higher National Institute of Health Stroke Scale (NIHSS). Objective: To determine the relationship of leukaraiosis toward functional clinical outcomes and cognitive function of patients with thrombosis type ischemic stroke. Method: Observational analytical research with cross sectional design. The study sample was taken based on consecutive sampling in patients with thrombosis type ischemic stroke treated at RSUD dr. Zainoel Abidin Banda Aceh from February 2024 to April 2024. Functional clinical outcomes assessed using NIHSS and cognitive function assessed using Montreal Cognitive Assessment (MoCa-Ina). Results: 75 samples that met the research criteria were obtained. The study was dominated by patients with leukoaraiosis (50.7%). The severity of leukoaraiosis was strongly associated with negative direction to functional outcomes (r = -0.602; p = 0.0001) and cognitive function (r = -0.726; p = 0.0001). The best cut off values for leukoaraiosis severity in predicting functional outcomes were grade 2 (sensitivity 56.5%; specificity 86.5%) and grade 1 for predicting cognitive function (sensitivity 73.1%; specificity 95.7%). Discussion: It was found that severity of leukoaraiosis is related to the clinical functional outcomes and cognitive function of patients with thrombosis type ischemic stroke with a strong and negative direction relationship. The severity of leukoaraiosis is a good predictor of the patient's clinical functional outcomes and cognitive function. Keywords: Cognitive Function, Ischemic Stroke, Leukoaraiosis, MoCa-Ina, NIHSS
Gambaran Klinis dan Elektrofisiologi Pasien dengan Sindrom Guillain-Barré di RSUD dr. Zainoel Abidin Periode Januari-Mei 2025 Warzukni
Majalah Kedokteran Neurosains Perhimpunan Dokter Spesialis Saraf Indonesia Vol 42 No 1 (2025): Volume 42, No 1 - Desember 2025
Publisher : PERDOSNI

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.52386/neurona.v42i1.805

Abstract

Introduction: Guillain-Barré Syndrome (GBS) is an acute peripheral polyneuropathy characterized by progressive muscle weakness and areflexia. Clinical manifestations and electrophysiological findings, such as those obtained Nerve Conduction Study (NCS) are essential for diagnosis, classification of subtypes, and determining prognosis. Objective: To describe the spectrum and electrophysiological characteristics of adult GBS patients treated at Neurology Department in dr. Zainoel Abidin General Hospital (RSUDZA), Banda Aceh, during the period of January to May 2025. Method: This was a descriptive observational study using medical record data of patients diagnosed with GBS who underwent nerve conduction study examinations. The data collected included demographic characteristics and electrophysiological patterns. Results: In this study, 16 patients diagnosed with Guillain-Barré Syndrome (GBS) were admitted to RSUDZA between January and May 2025, with 8 males (50.0%) and 8 females 50.0%). The patients' ages ranged from 13 to 71 years, with an average of 38.8 years. The majority were in the 41-50 age group (37.5%). All patients experienced weakness in all four limbs and reduced reflexes, except for 1 patient (6.3%) with normal reflexes. Out of 16 patients, 18.8% had a history of diarrhea, and 18.8% had respiratory infections. Electrophysiological results showed 84.6% had AMAN, and 7.7% had AMSAN, 7.7% had Miller-Fisher Syndrome and no patients were diagnosed with AIDP. Discussion: GBS patients at RSUDZA during the January–May 2025 period predominantly exhibited classic clinical features such as symmetrical weakness and areflexia, with axonal neuropathy being the most common electrophysiological subtype. Clinical assessment combined with nerve conduction study plays a crucial role in diagnosing GBS. Keywords: Guillain-Barré Syndrome, Nerve Conduction Study, polyneuropathy, RSUDZA
POST STROKE COGNITIVE IMPAIRMENT IN RURAL HOSPITAL: A COMPARATIVE ANALYSIS OF MOCA-INA AND MMSE Rumondang Silalahi, Valeria
Majalah Kedokteran Neurosains Perhimpunan Dokter Spesialis Saraf Indonesia Vol 42 No 1 (2025): Volume 42, No 1 - Desember 2025
Publisher : PERDOSNI

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.52386/neurona.v42i1.806

Abstract

Introductions: Post-stroke Cognitive Impairment (PSCI) is a long-term complication that may occur three months after a stroke. This cognitive impairment can range from mild to severe and may progress to dementia. The Mini-Mental State Examination (MMSE) and the Indonesian version of the Montreal Cognitive Assessment (MoCA-Ina) are commonly used screening tools for early detection of cognitive dysfunction due to their simplicity. However, data on their sensitivity in the Indonesian population is still limited. Objectives: This study aims to compare the proportion of cognitive impairment identified by MMSE and MoCA-Ina in post stroke patients at the Neurology Polyclinic of Hadrianus Sinaga Hospital, Samosir Island. Methods: This analytical, cross-sectional study was conducted on 49 samples that fulfilled the inclusion and exclusion criteria. Consecutive sampling was used, and data were analyzed using SPSS version 30.0 Results: Based on sociodemographic characteristics, most participants were male (67.3%), over 60 years old, and had a high school education. PSCI was identified in 34.7% of patients using the MMSE, while the MoCA-Ina detected impairment in 81.6%. Among patients with MoCA-Ina scores below 26, 57.5% had MMSE scores of 24 or higher. For severe cognitive impairment, 11 patients had MoCA-Ina scores below 18, seven of them had an MMSE score of 17 or higher. These differences were statistically significant (McNemar’s test, p <.001 and p .016). Conclusion: MoCA-Ina is more effective than MMSE in detecting early cognitive dysfunction in post stroke patients and may be recommended as a routine screening tool. Keywords: Post-stroke Cognitive Impairment, MMSE, MoCA-Ina.
HUBUNGAN KADAR TRANSFORMING GROWTH FACTOR BETA DENGAN DERAJAT NYERI PADA MIGRAIN DAN TENSION-TYPE HEADACHE Ningsih, Nadya Ayu; Surbakti, Khairul Putra; Pujiastuti, R. A. Dwi
Majalah Kedokteran Neurosains Perhimpunan Dokter Spesialis Saraf Indonesia Vol 42 No 1 (2025): Volume 42, No 1 - Desember 2025
Publisher : PERDOSNI

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.52386/neurona.v42i1.815

Abstract

ABSTRACT Introduction: Primary headaches, which mainly include Tension-type Headache (TTH) and migraine, account for 90% of all headaches and are the leading cause of disability worldwide. Migraine and TTH have pathogenesis that is not fully known, with one theory proposing neurogenic inflammation. Human Transforming Growth Factor β (TGF-β) is a pro-inflammatory cytokine that is thought to be involved in the occurrence of migraine and TTH. Objective: To determine the correlation between human TGF-β levels and the pain severity in migraine and TTH. Methods: This study used a cross-sectional design in patients with a diagnosis of migraine and TTH who sought treatment at the Ambulatory Clinic of Adam Malik Hospital and Prof. Dr. Chairuddin P. Lubis Hospital. We use Numeric Rating Scale score to determine the pain severity and ELISA kit to measure the TGF-β levels. This study involved 30 patients who met the inclusion and exclusion criteria. Results: The study subjects were found to be mostly female, 22 people (73.3%), with the age range of 18 to less than 26 years which was 20 people (66.7%). The mean TGF-β level of patients was 0.400±0.531 ng/mL. The mean pain severity of patients was 2.60±2.415. The results of the Spearman correlation test showed a moderate positive correlation (r: 0.523) which was found significant with a p value of 0.003 between TGF-β and the pain severity in migraine and TTH. Conclusion: There was significant correlation between human TGF-β levels and pain severity in migraine and TTH. Keywords: migraine, pain severity, TGF-β, TTH
EPILEPSI REFRAKTER DENGAN GANGGUAN NEUROPSIKIATRI PADA KOMPLEKS TUBEROSKLEROSIS : KASUS JARANG: REFRACTORY EPILEPSY WITH NEUROPSYCHIATRIC DISORDERS IN TUBEROUS SCLEROSIS COMPLEX: A RARE CASE Yusirizal, Hendra
Majalah Kedokteran Neurosains Perhimpunan Dokter Spesialis Saraf Indonesia Vol 42 No 1 (2025): Volume 42, No 1 - Desember 2025
Publisher : PERDOSNI

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.52386/neurona.v42i1.820

Abstract

ABSTRACT Tuberous Sclerosis Complex (TSC) is an autosomal dominant neurocutaneous syndrome characterized by the development of benign congenital tumors in multiple organs. The incidence of TSC with neuropsychiatric is rare, occurring 1:100,000 to 1:200,000 live births. TSC is associated with epilepsy, autism, and neurodevelopmental disorders. We report a case of 24 yo female patient with seizures of various semiology, since aged 7 months. Seizures and papular lesions nasal region with autism spectrum disorder. The diagnosis was established based on clinical findings, electroencephalography (EEG) showing epileptiform activity in both hemispheres, histopathological of nasal papules supported the diagnosis of TSC, neuroimaging presence of calcified subependymal nodules and multiple cortical tubers. Differential diagnoses including neurofibromatosis and Fahr’s disease were excluded. TSC is caused by mutations chromosome 9q34 (TSC1) or chromosome 16p13 (TSC2). Dysregulated tumor suppressor proteins hamartin and tuberin, which interact with the mTOR protein complex. This disruption leads to dysregulated cell growth and protein synthesis, resulting in the formation of tumors in multiple organs including the brain, where subependymal nodules and cortical tubers are characteristic findings. The diagnosis of TSC is made through clinical evaluation, histopathological examination, EEG, and neuroimaging. Effective management of refractory epilepsy is critical to preventing seizure recurrence and mitigating neurodevelopmental and neuropsychiatric complications. This case multidisciplinary approach in the diagnosis and management of TSC. The appropriate use of anti-seizure medications of refractory epilepsy with TSC can effectively control seizures. Neuropsychiatric disorders managed with behavioral therapy multidisciplinary approach. Keywords: Refractory Epilepsy, TAND, Tuberous Sclerosis Complex
A DIFFERENT VARIANTS OF PRIMARY PROGRESSIVE APHASIA: A CASE SERIES Putra, Davy; Ulita, Paulina Thiomas
Majalah Kedokteran Neurosains Perhimpunan Dokter Spesialis Saraf Indonesia Vol 42 No 1 (2025): Volume 42, No 1 - Desember 2025
Publisher : PERDOSNI

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.52386/neurona.v42i1.821

Abstract

Introduction: The primary progressive aphasias (PPA) are a group of disorders consisting of logopenic (lvPPA), semantic (svPPA), and nonfluent/agrammatic (nfvPPA) variant PPA. Although it is being diagnosed with increasing frequency, PPA is still a rare syndrome. The PPA syndrome arises when the language-dominant (usually left) hemisphere becomes the principal target of neurodegeneration. It is often difficult to identify the underlying neurodegenerative disease etiologies for patients with progressive speech disorders. Here we report on 4 cases of Primary Progressive Aphasia of different variants. Case Presentation: Three patients in their fifties with PPA in logopenic, non-fluent, and semantic variants while 1 other patient aged seventy-two suffered from logopenic variant of PPA. All four of them had the insidious onset and gradual progression of a language impairment as initial complaints. Neuroimaging studies revealed cortical atrophy in various degrees and located primarily in the left side. Discussion: The PPA syndrome is diagnosed when 3 criteria are met. The patient should have the insidious onset and gradual progression of aphasia. Aphasia should initially arise as the primary impairment and constitute the principal factor underlying the disruption of daily living activities and diagnostic testing should point to a neurodegenerative, and therefore progressive, process as the only underlying cause. Three patients had early onset dementia with aphasia as the initial symptoms for all of them. We classified the patients into each variant through a diagnostic framework. The underlying pathology of our patients suggests either Alzheimer’s disease or of the frontotemporal dementia pathologies. Keywords: Logopenic, Nonfluent, Primary progressive aphasia, Semantic
NEURONA Supplement Edition in collaboration with ASEAN Neurological Association 2025 NEURONA
Majalah Kedokteran Neurosains Perhimpunan Dokter Spesialis Saraf Indonesia NEURONA Supplement Edition in collaboration with ASEAN Neurological Association 2025
Publisher : PERDOSNI

Show Abstract | Download Original | Original Source | Check in Google Scholar

Abstract

NEURONA, as the official scientific journal of the Indonesian Neurological Association (PERDOSNI), has been continuously published since 2007. Markinga new milestone, the journal proudly presents this supplementary edition, published in collaboration with the ASEAN Neurological Association 2025 (ASNA2025).This supplementary edition compiles 281 abstracts submitted for the meeting, encompassing a broad range of topics in neurology, including stroke,neurointervention, neuroimaging, neuro-otology and neuro-ophthalmology, neurorestoration and neuroengineering, neuroepidemiology, as well as ethicsand law.It is our earnest hope that this supplementary edition will broaden readers’ scientific perspectives and serve as a catalyst for further research andpublication in the field of neurology. We also believe that partnerships through media collaborations in neurological scientific events will help ensure thesustainability of this journal, which represents the collective effort of all neurologists in Indonesia.We extend our deepest appreciation for the continued support and collaboration that have made this publication possible
Duchenne Muscular Dystrophy: Dari Kesadaran Genetik Menuju Kualitas Hidup yang Lebih Baik Ar Rochmah, Mawaddah
Majalah Kedokteran Neurosains Perhimpunan Dokter Spesialis Saraf Indonesia Vol 42 No 1 (2025): Volume 42, No 1 - Desember 2025
Publisher : PERDOSNI

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.52386/neurona.v42i1.883

Abstract

Duchenne Muscular Dystrophy (DMD) is one of the most common genetic neuromuscular disorders in boys, despite being a rare disease. Inherited in an X-linked recessive pattern, DMD carries severe consequences not only for the patient but also for their family. A mother who is a carrier is likely to pass the DMD gene mutation to her son, with a real risk of having a generation with progressive muscle weakness from an early age. Awareness of this inheritance pattern is crucial, given that early diagnosis through genetic screening can provide crucial information for families to take appropriate medical and psychosocial measures. DMD is more than just a muscle disease. Its impact is far-reaching on the quality of life of children, who over time can lose the ability to walk, experience cardiopulmonary complications, and become dependent on intensive care. Families face significant physical, emotional, and financial burdens. Therefore, medical intervention and psychosocial support are crucial. The quality of life of patients and their families must be the primary focus of treatment, not only to prolong life but also to ensure a more meaningful childhood and adolescence. In many developed countries, the development of gene therapy has opened a new chapter in the treatment of DMD. This approach targets the underlying cause of the disease—mutations in the dystrophin gene—thus enabling molecular improvements in muscle function. While still facing challenges in terms of cost, access, and long-term evaluation, this therapy has significantly improved survival rates and slowed disease progression. Meanwhile, in Indonesia, DMD treatment is still dominated by conservative therapy. Corticosteroids, physiotherapy, nutritional support, occupational therapy, and cardiopulmonary management are the main pillars. This multidisciplinary care has been proven to slow progression, improve quality of life, and extend life expectancy, which can now reach the third decade of life with good management. While different from gene therapy practices abroad, conservative therapy still offers significant benefits when implemented consistently and comprehensively. Public awareness of genetic diseases like DMD needs to be increased. The label "rare disease" often keeps it out of the public eye, despite the fact that cases are real and not infrequent. Education about the importance of genetic screening, understanding inheritance patterns, and social acceptance of children with DMD will strengthen the support families need. Furthermore, the involvement of policymakers in expanding access to genetic diagnostics and paving the way for innovative therapies in the future will significantly determine the direction of DMD management in Indonesia. DMD teaches us that genetic diseases are not just clinical issues, but also social and humanitarian ones. Children with DMD deserve a better quality of life, with solid medical, family, and community support. The momentum of increasing public awareness about genetic diseases must continue to be encouraged to reduce stigma, increase access to services, and give every child born with DMD the opportunity for a more meaningful life.

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