Acta neurologica Taiwanica最新文献

Chronic neuropathic pain due to injury or dysfunction of the nervous system, which intensifies as it continues, affects millions of people and remains a formidable treatment challenge in spite of a growing range of medication choices. This neuropathy can range from mild to extreme in pain levels. In spite of several experimental and animal studies on neuropathic pain, its pathophysiologic mechanisms have not been completely understood. The pharmacotherapy for neuropathic pain has had a limited success with little or no response to commonly-used pain-reducing drugs, such as nonsteroidal anti-inflammatory drugs and opiates. Recent research efforts into pathophysiological mechanisms have revealed new treatment targets, new classification schemes have opened up novel options for individualized treatment strategies, and the implementation of several international guidelines should help to improve care of patients. This review briefly summarizes the theoretical development and experimental evidence of recent and novel emerging drug target the glutaminergic system, for neuropathic pain treatment. Sustained efforts on this novel drug target can expedite the development of lead compounds to reach the clinical stage, which will broaden our pharmacotherapeutic armaments against various debilitating, painful conditions.

Background: Hereditary spastic paraplegia (HSP) type 10 (SPG10) is an autosomal-dominantly inherited disease caused by pathogenic variants in KIF5A , presenting as either pure or complex HSP.

Objectives: This study aims to investigate the clinical and genetic features of KIF5A variants in a Taiwanese cohort diagnosed with HSP.

Materials and methods: We analyzed KIF5A coding regions in 219 unrelated Taiwanese patients clinically diagnosed with HSP using a targeted resequencing panel. Clinical, electrophysiological, and neuroimaging features of patients with SPG10 were characterized.

Results: Only one (0.5%) patient carried a heterozygous KIF5A variant, c.838C>T (p.Arg280Cys). This patient had a complex HSP phenotype with sensorimotor polyneuropathy, neuropathic pain, appendicular ataxia, and late disease onset at 39 years. Three family members also carried the variant, with one presented with HSP and two with axonal polyneuropathy, diagnosed as axonal Charcot-Marie-Tooth disease (CMT2).

Conclusions: SPG10 is a rare HSP subtype in the Taiwanese population. This is the first report of SPG10 in Taiwan, highlighting the coexistence of SPG10 and CMT2 within a single family and the significant intra-familial phenotypic variation.

Spontaneous intracranial hypotension (SIH) is caused by leakage of cerebrospinal fluid (CSF) within the spinal column, and it is a rare risk factor for cerebral venous sinus thrombosis (CVST), which is a life-threatening condition. We present a case of SIH with further developed CVST causing intracranial hypertension. Discussions were made on the mechanisms of SIH, leading to CVST and the presentations and treatment of SIH. Clinicians should keep in mind the coexistence of CVST and SIH. Patients with CVST should be closely observed for any change in the headache pattern such as orthostatic headache, which might suggest the coexistence of SIH. This directs treatment toward the identification and management of occult CSF leaks.

In this review, the authors report on the development and discovery of atypical variants in Alzheimer's disease (AD). The behavioral variant of AD is emphasized and described in detail, in addition to its comparison with other variants. Furthermore, the newly developed diagnostic criteria and diagnostic approach are explained and applied for clinical practice in neurology. Principles of management and treatment for behavioral variants are highlighted. Three cases are reported to illustrate different courses of pathophysiology in behavioral variants in AD.

Takotsubo cardiomyopathy (TCM), also known as stress cardiomyopathy, affects 0.02% of hospitalized patients and is primarily triggered by emotional stressors, although unusual medical situations have also been documented. We report the case of a 36-year-old female patient who presented with symptoms of infection (oropharyngeal pain and diarrhea) 10 days before admission. Upon arrival at the emergency department, she exhibited progressive weakness, lower cranial nerve involvement, and areflexia, necessitating invasive mechanical ventilation support. Diagnostic evaluation revealed sinus tachycardia and atrial fibrillation, leading to a diagnosis of Guillain-Barré syndrome (GBS) with associated cardiovascular dysautonomia. Echocardiography demonstrated apical hypokinesia of the left ventricle, consistent with TCM. Furthermore, her thyroid profile indicated hyperthyroidism, fulfilling the criteria for a thyroid storm. Treatment comprised intravenous human immunoglobulin, methimazole, and propranolol. We present the first documented case of TCM attributed to dysautonomia resulting from GBS and thyroid storm.

Background: The insecurity and fear regarding the practice of neurology by medical students and newly graduated doctors are known as neurophobia. This condition contributes for relative paucity of neurologists and insecurity in the management of neurological diseases by doctors in primary health care.

Objectives: Our aim is to identify the presence of neurophobia in medical students, determine its likely origin, and to propose solutions.

Materials and methods: A cross-sectional, observational, noninterventionist, and quantitative study was performed between April 2022 and October 2023, using students in the 4th and 5th year of the medical course at university from the South of Brazil. A questionnaire was prepared using Google tool forms that were sent via a link to the academics' WhatsApp group, along with the Free and Informed Consent Form.

Results: The study cohort comprised 100 students (60% female) aged between 19 and 39 years (mean 23 years). About 88% agreed that neurophobia exists and 80% considered it unlikely to specialize in neurology. The factors associated with neurophobia were: phobic comments from veterans (71%); separation between basic and clinical education (62%); lesser skill of teachers in teaching neurological semiology (55%); and lack of patients in outpatient clinics (54.5%). Eighty-five percent stated that neurophobia could be avoided by teaching neurophysiology aimed at general practitioners and 63% by increasing the course load. Neurophobia was significant in >22 years of age.

Conclusions: Neurophobia was present in the majority of the sample, associated with phobic comments from veterans, less skill on the part of teachers in teaching neurological semiology, separation of theoretical and practical teaching, and low course load. It is suggested that a reflection be made in the development of the neurology program that considers the training of a generalist doctor and that integrates theoretical knowledge with care activities.

This article describes the case of a 68-year-old woman presenting with acute dizziness and double vision, diagnosed with wall-eyed bilateral internuclear ophthalmoplegia (WEBINO). She experienced unprovoked, nonpositional dizziness, and binocular double vision that improved with eye closure. Neurological examination showed right eye exotropia, left eye hypertropia, mild right eyelid ptosis, and impaired extraocular movements, especially in elevation and adduction. Diagnostic tests including blood work and cerebrospinal fluid analysis were largely normal, but brain magnetic resonance imagingindicated symmetric diffusion-weighted imaging brightening in the bilateral midbrain, suggesting an acute infarction. WEBINO, a rare neuro-ophthalmological disorder often linked to brainstem strokes or demyelinating diseases, is characterized by bilateral medial rectus weakness due to lesions in the medial longitudinal fasciculus. The case underscores the importance of thorough clinical and radiological evaluation in diagnosing atypical presentations of neuro-ophthalmological disorders, with management focused on treating the underlying cause and providing symptomatic relief for diplopia.

Marchiafava-Bignami disease (MBD) is a rare demyelinating disorder primarily associated with chronic alcoholism. We present a case of a nonalcoholic patient who developed acute cognitive decline secondary to severe dietary deficiency. Magnetic resonance imaging (MRI) demonstrated an isolated, symmetric lesion in the central corpus callosum, differentiating MBD from acute infarction. Rapid improvement followed Vitamin B supplementation, emphasizing the need for early recognition and treatment. This case expands the clinical spectrum of MBD and underscores the crucial role of MRI in diagnosis and prognosis.

Cerebral venous sinus thrombosis (CVST) is a rare type of stroke with a variable presentation. Without a prompt diagnosis, subacute presentation can delay treatment with devastating results. Our case presents an unusual clinical pattern of a young patient presenting with audio-visual hallucinations who was diagnosed with CVST. A 26-year-old man with no neurological or psychological history presented with audio-visual hallucinations, transient uncontrolled movements of his left upper extremities, and right-sided headache. Physical examination was nonfocal, and he demonstrated normal awareness, orientation, and motor function. CT angiography, CT venography (CTV) of the head, and magnetic resonance imaging of the brain were suggestive of multiple intracranial malformations versus neoplasm. The patient underwent digital subtraction angiography, which demonstrated nonocclusive thrombi in several right posterior temporal cortical veins. There was also a nonocclusive thrombus in the right sigmoid sinus. No intracranial aneurysm, arteriovenous malformation, or arteriovenous shunting was found. The patient was started on antiseizure medication as treatment for ongoing hallucinations and convulsions. After several days of intravenous heparin, the patient was transitioned to oral anticoagulant. CVST is a rare cerebrovascular disease, accounting for 0.5% of all strokes. Diagnosis is usually made in young adults with pre-existing hypercoagulable risk factors or positive family history. With symptoms such as those mentioned above, a high degree of suspicion is required to mitigate delay in diagnosis and therapy. Our case is the first documented case of a young patient with no relevant past medical history and risk factors developing hallucinations related CVST.