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BMJ Case Reports Apr 2024A middle-aged man with progressive multifocal leukoencephalopathy (PML) in a human T-cell lymphotropic virus type-1 (HTLV-1) carrier on haemodialysis presented with mild...
A middle-aged man with progressive multifocal leukoencephalopathy (PML) in a human T-cell lymphotropic virus type-1 (HTLV-1) carrier on haemodialysis presented with mild dysarthria and ataxia. Brain MRI revealed asymmetric T-hyperintense lesions in the cerebral white matter, cerebellum and brainstem. A small amount of JC virus (JCV) genome in cerebrospinal fluid was detected by PCR and cerebellar biopsy demonstrated JCV-DNA presence. Pathological findings showed demyelinating lesions and glial cells with mildly enlarged nuclei, accompanied by T-lymphocytes, neutrophils and plasma cell infiltration. The CD4+/CD8+ratio was 0.83. High-dose corticosteroid therapy was effective for inflammatory PML lesions, and the administration of mefloquine combined with mirtazapine led to favourable outcome. The encephalitis in this case is considered to have occurred secondarily to JCV infection in the presence of HTLV-1 infection. Therefore, it is crucial to investigate the presence of HTLV-1 in order to understand the aetiology of this brain inflammation.
Topics: Humans; Leukoencephalopathy, Progressive Multifocal; Male; HTLV-I Infections; Middle Aged; Human T-lymphotropic virus 1; JC Virus; Coinfection; Mirtazapine; Magnetic Resonance Imaging; Mefloquine
PubMed: 38688573
DOI: 10.1136/bcr-2023-257805 -
Journal of Neuroimmunology Jun 2024Autoimmune nodopathy (AN) is a group of peripheral neuropathies caused by antibodies targeting the nodes of Ranvier or paranodes. It typically presents with sensory...
Autoimmune nodopathy (AN) is a group of peripheral neuropathies caused by antibodies targeting the nodes of Ranvier or paranodes. It typically presents with sensory ataxia, distal limb weakness, and tremor, and often has a subacute onset, with limited response to immunoglobulin or corticosteroids. We report a case of anti-contactin-1 neuropathy initially manifesting as isolated superior oblique palsy, aiming to broaden the clinical spectrum of the disease. A 68-year-old male with well-controlled diabetes, hypertension, and hyperlipidemia developed acute binocular vertical diplopia, progressing over two months to include distal paresthesia, sensory ataxia, ageusia, and dysarthria. Concurrent nephrotic syndrome was identified. Nerve conduction studies supported demyelination. Despite treatment with intravenous methylprednisolone followed by long-term immunosuppression, some disability persisted. Serum archived during his admission tested positive for anti-contactin-1 IgG, with IgG4 as the predominant subclass, in the flow cytometry assay for AN. This case extends the clinical spectrum of AN. Some cases of isolated cranial nerve palsies, especially in the relevant context like nephrotic syndrome, may be attributed to AN. Prompt initiation of more effective therapies, such as rituximab, could significantly improve outcomes.
Topics: Humans; Male; Aged; Immunoglobulin G; Contactin 1; Autoantibodies; Trochlear Nerve Diseases
PubMed: 38688208
DOI: 10.1016/j.jneuroim.2024.578348 -
Journal of Clinical Medicine Apr 2024Cerebellar ataxia is a neurological syndrome characterized by the imbalance (e.g., truncal ataxia, gait ataxia) and incoordination of limbs while executing a task... (Review)
Review
Cerebellar ataxia is a neurological syndrome characterized by the imbalance (e.g., truncal ataxia, gait ataxia) and incoordination of limbs while executing a task (dysmetria), caused by the dysfunction of the cerebellum or its connections. It is frequently associated with other signs of cerebellar dysfunction, including abnormal eye movements, dysmetria, kinetic tremor, dysarthria, and/or dysphagia. Among the so-termed mitochondrial ataxias, variants in genes encoding steps of the coenzyme Q10 biosynthetic pathway represent a common cause of autosomal recessive primary coenzyme Q10 deficiencies (PCoQD)s. PCoQD is a potentially treatable condition; therefore, a correct and timely diagnosis is essential. After a brief presentation of the illustrative case of an Italian woman with this condition (due to a novel homozygous nonsense mutation in ), this article will review ataxias due to PCoQD.
PubMed: 38673663
DOI: 10.3390/jcm13082391 -
The Neurohospitalist Apr 2024Lateral medullary syndrome is a common presentation of posterior circulation ischemia that presents with ipsilateral Horner syndrome, ipsilateral facial numbness,...
Lateral medullary syndrome is a common presentation of posterior circulation ischemia that presents with ipsilateral Horner syndrome, ipsilateral facial numbness, contralateral body numbness, vestibular symptoms, ataxia, dysphagia, and dysarthria. Here, we describe an 84-year-old who presented to the hospital with right upper motor neuron facial weakness and gait abnormality found to have a right lateral medullary ischemic stroke. Multiple MRI's, including with thin brainstem slices, were without evidence of pontine, midbrain or cerebral ischemia outside the medulla. We postulate that the patient's ipsilateral upper motor neuron facial weakness was caused by involvement of aberrant corticobulbar fibers in the medulla ascending to the facial nucleus.
PubMed: 38666275
DOI: 10.1177/19418744231220175 -
BMC Neurology Apr 2024Scrub typhus is an acute infectious disease caused by Orientia tsutsugamushi. Guillain-Barre syndrome (GBS) is an autoimmune-mediated peripheral neuropathy with a... (Review)
Review
BACKGROUND
Scrub typhus is an acute infectious disease caused by Orientia tsutsugamushi. Guillain-Barre syndrome (GBS) is an autoimmune-mediated peripheral neuropathy with a frequent history of prodromal infections, but GBS associated with scrub typhus is very rare.
CASE PRESENTATION
We report a 51-year-old male patient who developed dysarthria and peripheral facial paralysis following the cure of scfrub typhus. CSF examination and electrophysiological findings suggested a diagnosis of GBS. After treatment with intravenous immunoglobulin, the patient's neurological condition improved rapidly.
CONCLUSIONS
Scrub typhus infection is likely to be a potential predisposing factor in GBS, while scrub typhus-associated GBS has a favorable prognosis.
Topics: Humans; Guillain-Barre Syndrome; Scrub Typhus; Male; Middle Aged; Immunoglobulins, Intravenous
PubMed: 38664621
DOI: 10.1186/s12883-024-03645-9 -
Journal of Neurology, Neurosurgery, and... Apr 2024We aimed to investigate the clinical, imaging and fluid biomarker characteristics in patients with antidiacylglycerol lipase alpha (DAGLA)-autoantibody-associated...
BACKGROUND
We aimed to investigate the clinical, imaging and fluid biomarker characteristics in patients with antidiacylglycerol lipase alpha (DAGLA)-autoantibody-associated cerebellitis.
METHODS
Serum and cerebrospinal fliud (CSF) samples from four index patients were subjected to comprehensive autoantibody screening by indirect immunofluorescence assay (IIFA). Immunoprecipitation, mass spectrometry and recombinant protein assays were used to identify the autoantigen. Sera from 101 patients with various neurological symptoms and a similar tissue staining pattern as the index patient samples, and 102 healthy donors were analysed in recombinant cell-based IIFA (RC-IIFA) with the identified protein. Epitope characterisation of all positive samples was performed via ELISA, immunoblot, immunoprecipitation and RC-IIFA using different DAGLA fragments.
RESULTS
All index patients were relatively young (age: 18-34) and suffered from pronounced gait ataxia, dysarthria and visual impairments. Paraclinical hallmarks in early-stage disease were inflammatory CSF changes and cerebellar cortex hyperintensity in MRI. Severe cerebellar atrophy developed in three of four patients within 6 months. All patient samples showed the same unclassified IgG reactivity with the cerebellar molecular layer. DAGLA was identified as the target antigen and confirmed by competitive inhibition experiments and DAGLA-specific RC-IIFA. In RC-IIFA, serum reactivity against DAGLA was also found in 17/101 disease controls, including patients with different clinical phenotypes than the one of the index patients, and in 1/102 healthy donors. Epitope characterisation revealed that 17/18 anti-DAGLA-positive control sera reacted with a C-terminal intracellular DAGLA 583-1042 fragment, while the CSF samples of the index patients targeted a conformational epitope between amino acid 1 and 157.
CONCLUSIONS
We propose that anti-DAGLA autoantibodies detected in CSF, with a characteristic tissue IIFA pattern, represent novel biomarkers for rapidly progressive cerebellitis.
PubMed: 38663995
DOI: 10.1136/jnnp-2024-333458 -
Journal of Speech, Language, and... Apr 2024Despite the general agreement that dysarthria characteristics are largely language-independent, few efforts have attempted a systematic comparison across languages. To...
PURPOSE
Despite the general agreement that dysarthria characteristics are largely language-independent, few efforts have attempted a systematic comparison across languages. To examine the role of native languages in the perception of speech characteristics of dysarthria secondary to Parkinson's disease (PD), auditory-perceptual ratings of dysarthria, and confidence level of the judgments were compared between two listener groups: language-matched and language-crossed.
METHOD
A total of 60 listeners (35 native speakers of Korean and 25 native speakers of American English) estimated speech abnormality for 20 speech dimensions using a visual analog scale method for both language-matched and language-crossed speech stimuli. Speech stimuli were passage readings of the respective languages obtained from individuals with and without PD.
RESULTS
For speech dimension ratings, eight of 20 speech dimensions revealed significant differences in response to PD speech between the two listener groups, for most of which, language-crossed listeners' estimation was lower (i.e., more impaired) than language-matched listeners. For confidence-level ratings, language-matched listeners were less confident in the ratings of speakers with PD compared to the language-crossed listeners.
CONCLUSIONS
The data support both language-universal and language-specific aspects in perceiving dysarthria characteristics, such that native language plays a role, especially when rating articulatory- and rhythmic-related characteristics. The findings are discussed with respect to the role of linguistic information, such as phonetic inventories and prosodic structures, in perceiving dysarthria characteristics.
PubMed: 38662924
DOI: 10.1044/2024_JSLHR-23-00668 -
Frontiers in Neurology 2024Poststroke seizure is a potential complication of stroke, which is the most frequent acute symptomatic seizure in adults. Patients with stroke may present with an... (Review)
Review
Poststroke seizure is a potential complication of stroke, which is the most frequent acute symptomatic seizure in adults. Patients with stroke may present with an abnormal or aggressive behavior accompanied by altered mental status and symptoms, such as hemiparesis, dysarthria, and sensory deficits. Although stroke manifestations that mimic seizures are rare, diagnosing poststroke seizures can be challenging when accompanied with negative postictal symptoms. Differential diagnoses of poststroke seizures include movement disorders, syncope, and functional (nonepileptic) seizures, which may present with symptoms similar to seizures. Furthermore, it is important to determine whether poststroke seizures occur early or late. Seizures occurring within and after 7 d of stroke onset were classified as early and late seizures, respectively. Early seizures have the same clinical course as acute symptomatic seizures; they rarely recur or require long-term antiseizure medication. Conversely, late seizures are associated with a risk of recurrence similar to that of unprovoked seizures in a patient with a focal lesion, thereby requiring long-term administration of antiseizure medication. After diagnosis, concerns regarding treatment strategies, treatment duration, and administration of primary and secondary prophylaxis often arise. Antiseizure medication decisions for the initiation of short-term primary and long-term secondary seizure prophylaxis should be considered for patients with stroke. Antiseizure drugs such as lamotrigine, carbamazepine, lacosamide, levetiracetam, phenytoin, and valproate may be administered. Poststroke seizures should be diagnosed systematically through history with differential diagnosis; in addition, classifying them as early or late seizures can help to determine treatment strategies.
PubMed: 38660095
DOI: 10.3389/fneur.2024.1337960 -
Stereotactic and Functional Neurosurgery 2024Magnetic resonance-guided focused ultrasound (MRgFUS) is an effective treatment option for essential tremor (ET) and tremor dominant Parkinson's disease (TDPD), which is...
INTRODUCTION
Magnetic resonance-guided focused ultrasound (MRgFUS) is an effective treatment option for essential tremor (ET) and tremor dominant Parkinson's disease (TDPD), which is often performed with sedation or in the presence of an anesthesiologist in an effort to minimize adverse events and maximize patient comfort. This study explores the safety, feasibility, and tolerability of performing MRgFUS without an anesthesiologist.
METHODS
This is a single academic center, retrospective review of 180 ET and TDPD patients who underwent MRgFUS treatment without anesthesiologist support. Patient demographics, intra-procedural treatment parameters, peri-procedural adverse events, and 3-month Clinical Rating Scale for Tremor Part B (CRST-B) scores were compared to MRgFUS studies that utilized varying degrees of anesthesia.
RESULTS
There were no anesthesia related adverse events or unsuccessful treatments. There were no early treatment terminations due to patient discomfort, regardless of skull density ratio. 94.6% of patients would repeat the procedure again. The most common side effects during treatment were facial/tongue paresthesia (26.3%), followed by nausea (22.3%), dysarthria (8.6%), and scalp pain (8.0%). No anxiolytic, pain, or antihypertensive medications were administered. The most common early adverse event after MRgFUS procedure was gait imbalance (58.3%). There was a significant reduction of 83.1% (83.4% ET and 80.5% TDPD) of the mean CRST-B scores of the treated hand when comparing 3-month and baseline scores (1.8 vs. 10.9, n = 109, p < 0.0001).
CONCLUSION
MRgFUS without intra-procedural anesthesiologist support is a safe, feasible, and well-tolerated option, without an increase in peri-procedural adverse events.
Topics: Humans; Male; Female; Middle Aged; Aged; Retrospective Studies; Parkinson Disease; Essential Tremor; Anesthesiologists; Treatment Outcome; Magnetic Resonance Imaging; Aged, 80 and over; High-Intensity Focused Ultrasound Ablation; Adult
PubMed: 38657586
DOI: 10.1159/000537695