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Frontiers in Neurology 2024Bickerstaff brainstem encephalitis (BBE) is a rare autoimmune disease characterized by the subacute onset of bilateral external ophthalmoplegia, ataxia, and decreased... (Review)
Review
Bickerstaff brainstem encephalitis (BBE) is a rare autoimmune disease characterized by the subacute onset of bilateral external ophthalmoplegia, ataxia, and decreased level of consciousness. BBE is part of a group of rare autoimmune diseases in children that can affect the nervous system at any level. The onset of neurological deficits is often sudden and nonspecific. The diagnosis is based on clinical findings and abnormal findings on cerebrospinal fluid (CSF), electroencephalography (EEG), electromyography (EMG), and magnetic resonance imaging (MRI). BBE is associated with the presence of the antiganglioside antibody, anti-GQ1b and anti-GM1. Intravenous immunoglobulin (IVIg) and plasma exchange are often used as treatments for these patients. We conducted a review on clinical presentation, diagnosis, treatment and outcome of reported cases of BBE. 74 cases are reported in the literature from the first cases described in 1951 to today. The prevalence is unknown while the incidence is higher in males. In 50% of cases, BBE occurs following respiratory or gastrointestinal tract infections. The most frequent initial symptoms were consciousness disturbance, headache, vomiting, diplopia, gait disturbance, dysarthria and fever. During illness course, almost all the patients developed consciousness disturbance, external ophthalmoplegia, and ataxia. Lumbar puncture showed pleocytosis or cytoalbuminological dissociation. Abnormal EEG and MRI studies revealed abnormalities in most cases. Anti-GQ1b antibodies were detected in more than half of the patients; anti-GM1 antibodies were detected in almost 40% of patients. Treatment guidelines are missing. In our analysis, steroids and IVIg were administered alone or in combination; as last option, plasmapheresis was used. BBE has a good prognosis and recovery in childhood is faster than in adulthood; 70% of patients reported no sequelae in our analysis. Future studies need to investigate pathogenesis and possible triggers, and therapeutic possibilities.
PubMed: 38533411
DOI: 10.3389/fneur.2024.1387505 -
Neurology International Feb 2024Due to the occlusion of the anterior choroidal artery (AChA), ischemic strokes are described with the classic clinical triad, namely hemiplegia, hemianesthesia, and...
Due to the occlusion of the anterior choroidal artery (AChA), ischemic strokes are described with the classic clinical triad, namely hemiplegia, hemianesthesia, and homonymous hemianopsia. The aim of this study is to document the characteristic clinical presentation and course of AChA infract cases. We describe five cases with acute infarction in the distribution of the AChA, admitted to the Neurological Department of the University General Hospital of Larissa. Results: All cases presented with hemiparesis and lower facial nerve palsy, while four of them had dysarthria, and two patients exhibited ataxia. Two cases underwent intravenous thrombolysis. A notable feature was the worsening of the clinical course, specifically the exacerbation of upper limb weakness within 48 h. Stabilization occurred after the third day, with the final development of a more severe clinical presentation than the initial one. Additionally, muscle weakness was more severe in the upper limb than in the lower limb. The recovery of upper limb function was poor in the three-month follow-up for the four cases. While vascular brain episodes are characterized by sudden onset, in AChA infraction, the clinical onset can be gradually developed over a few days, with a greater burden on the upper limb and poorer recovery.
PubMed: 38525700
DOI: 10.3390/neurolint16020020 -
Frontiers in Immunology 2024Autoimmune nodopathy (AN) has emerged as a novel diagnostic category that is pathologically different from classic chronic inflammatory demyelinating polyneuropathy.... (Review)
Review
BACKGROUND
Autoimmune nodopathy (AN) has emerged as a novel diagnostic category that is pathologically different from classic chronic inflammatory demyelinating polyneuropathy. Clinical manifestations of AN include sensory or motor neuropathies, sensory ataxia, tremor, and cranial nerve involvement. AN with a serum-positive contactin-1 (CNTN1) antibody usually results in peripheral nerve demyelination. In this study, we reported a rare case of AN with CNTN1 antibodies characterized by the presence of CNTN1 antibodies in both serum and cerebrospinal fluid, which is associated with cerebellar dysarthria.
METHODS
A 25-year-old man was admitted to our hospital due to progressive dysarthria with limb tremors. The patient was initially diagnosed with peripheral neuropathy at a local hospital. Three years after onset, he was admitted to our hospital due to dysarthria, apparent limb tremor, and limb weakness. At that time, he was diagnosed with spinocerebellar ataxia. Eight years post-onset, during his second admission, his condition had notably deteriorated. His dysarthria had evolved to typical distinctive cerebellar characteristics, such as tremor, loud voice, stress, and interrupted articulation. Additionally, he experienced further progression in limb weakness and developed muscle atrophy in the distal limbs. Magnetic resonance imaging (MRI), nerve conduction studies (NCS), and autoimmune antibody tests were performed.
RESULTS
The results of the NCS suggested severe demyelination and even axonal damage to the peripheral nerves. MRI scans revealed diffuse thickening of bilateral cervical nerve roots, lumbosacral nerve roots, cauda equina nerve, and multiple intercostal nerve root sheath cysts. Furthermore, anti-CNTN1 antibody titers were 1:10 in the cerebrospinal fluid (CSF) and 1:100 in the serum. After one round of rituximab treatment, the patient showed significant improvement in limb weakness and dysarthria, and the CSF antibodies turned negative.
CONCLUSION
Apart from peripheral neuropathies, cerebellar dysarthria (central nervous system involvement) should not be ignored in AN patients with CNTN1 antibodies.
Topics: Male; Humans; Adult; Dysarthria; Tremor; Contactin 1; Ataxia; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
PubMed: 38524138
DOI: 10.3389/fimmu.2024.1308068 -
Cureus Feb 2024Lateral medullary infarction (LMI), or Wallenberg syndrome, can develop various symptoms, but it is rare that ipsilateral axial lateropulsion (or body lateropulsion, BL)...
Lateral medullary infarction (LMI), or Wallenberg syndrome, can develop various symptoms, but it is rare that ipsilateral axial lateropulsion (or body lateropulsion, BL) or atonic bladder (AB) are caused by LMI. This report describes a case of LMI with both BL and AB. A 77-year-old man, with a history of hypertension and diabetes, developed acute left BL and anuresis. A neurological exam showed right gaze nystagmus, slight dysarthria and dysphagia, right dysesthesia in the trunk, and ataxia in the left limbs and trunk. Horner's syndrome and paralysis were unremarkable. Brain magnetic resonance imaging revealed hyperintensity in the lateral medulla oblongata. Cystometry revealed AB, although the patient had the urge to urinate. Owing to acute therapy, although trunk ataxia was presented for several months, BL and anuresis were recovered on day 15 and day 35, respectively. Here, we describe the potential mechanisms of BL and AB caused by LMI.
PubMed: 38516483
DOI: 10.7759/cureus.54492 -
Cureus Feb 2024Fanconi anemia (FA) is an inherited bone marrow failure syndrome associated with congenital anomalies and a predisposition to cancer. We report the case of a 9-year-old...
Fanconi anemia (FA) is an inherited bone marrow failure syndrome associated with congenital anomalies and a predisposition to cancer. We report the case of a 9-year-old boy with FA who developed an abrupt onset of hemiplegia and dysarthria. The diagnosis of moyamoya disease (MMD) was suggested by magnetic resonance angiography (MRA) which demonstrated severe stenosis in the right internal carotid artery along with collateral vessel formation in the right basal ganglia. It is questioned whether the moyamoya pattern in this case is part of congenital malformations associated with FA or is the result of recurrent bleedings around the carotid siphon.
PubMed: 38510908
DOI: 10.7759/cureus.54455 -
Cureus Feb 2024We present a rare case of irinotecan-induced transient dysarthria in a 60-year-old female undergoing FOLFIRI (folinic acid (leucovorin), fluorouracil (5-FU), and...
We present a rare case of irinotecan-induced transient dysarthria in a 60-year-old female undergoing FOLFIRI (folinic acid (leucovorin), fluorouracil (5-FU), and irinotecan) chemotherapy for metastatic colorectal cancer. In eight out of the 12 cycles, an isolated, self-limiting "lingual dysarthria" with tongue stiffness consistently occurred during infusion and resolved promptly upon completion. Cranial imaging done during the initial episode and after the completion of the chemotherapy regimen were unremarkable. This temporal correlation suggests a drug-induced effect, proposed to be related to cholinergic hyperactivity associated with the drug's reversible inhibition of acetylcholinesterase. The hypoglossal nucleus, responsible for the motor function of the tongue, is selectively affected due to dense innervation by muscarinic cholinergic receptors (in comparison to other brainstem nuclei). This aligned with acute cholinergic syndrome common to irinotecan, and dysarthria might just be a rare manifestation of this common phenomenon. Its reversibility and atropine responsiveness support the cholinergic hypothesis. Clinicians should be mindful of this rare adverse event to avoid premature cessation of effective chemotherapy. Patient education on potential side effects and a comprehensive dysarthria work-up are crucial.
PubMed: 38510900
DOI: 10.7759/cureus.54416 -
Journal of Medical Internet Research Apr 2024Dysarthria is a common poststroke speech disorder affecting communication and psychological well-being. Traditional speech therapy is effective but often poses... (Randomized Controlled Trial)
Randomized Controlled Trial
BACKGROUND
Dysarthria is a common poststroke speech disorder affecting communication and psychological well-being. Traditional speech therapy is effective but often poses challenges in terms of accessibility and patient adherence. Emerging smartphone-based therapies may offer promising alternatives for the treatment of poststroke dysarthria.
OBJECTIVE
This study aimed to assess the efficacy and feasibility of smartphone-based speech therapy for improving speech intelligibility in patients with acute and early subacute poststroke dysarthria. This study also explored the impact of the intervention on psychological well-being, user experience, and overall feasibility in a clinical setting.
METHODS
Participants were divided into 2 groups for this randomized, evaluator-blinded trial. The intervention group used a smartphone-based speech therapy app for 1 hour per day, 5 days per week, for 4 weeks, with guideline-based standard stroke care. The control group received standard guideline-based stroke care and rehabilitation. Speech intelligibility, psychological well-being, quality of life, and user acceptance were assessed using repeated measures ANOVA.
RESULTS
In this study, 40 patients with poststroke dysarthria were enrolled, 32 of whom completed the trial (16 in each group). The intervention group showed significant improvements in speech intelligibility compared with the control group. This was evidenced by improvements from baseline (F=34.35; P<.001), between-group differences (F=6.18; P=.02), and notable time-by-group interactions (F=6.91; P=.01). Regarding secondary outcomes, the intervention led to improvements in the percentage of correct consonants over time (F=5.57; P=.03). In addition, significant reductions were noted in the severity of dysarthria in the intervention group over time (F=21.18; P<.001), with a pronounced group effect (F=5.52; P=.03) and time-by-group interaction (F=5.29; P=.03). Regarding quality of life, significant improvements were observed as measured by the EQ-5D-3L questionnaire (F=13.25; P<.001) and EQ-VAS (F=7.74; P=.009) over time. The adherence rate to the smartphone-based app was 64%, with over half of the participants completing all the sessions. The usability of the app was rated high (system usability score 80.78). In addition, the intervention group reported increased self-efficacy in using the app compared with the control group (F=10.81; P=.003).
CONCLUSIONS
The smartphone-based speech therapy app significantly improved speech intelligibility, articulation, and quality of life in patients with poststroke dysarthria. These findings indicate that smartphone-based speech therapy can be a useful assistant device in the management of poststroke dysarthria, particularly in the acute and early subacute stroke stages.
TRIAL REGISTRATION
ClinicalTrials.gov NCT05146765; https://clinicaltrials.gov/ct2/show/NCT05146765.
Topics: Humans; Smartphone; Dysarthria; Speech Therapy; Male; Female; Pilot Projects; Middle Aged; Stroke; Aged; Feasibility Studies; Quality of Life; Stroke Rehabilitation; Mobile Applications; Treatment Outcome
PubMed: 38509662
DOI: 10.2196/56417 -
Tremor and Other Hyperkinetic Movements... 2024Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by bi-allelic pathogenic variants in gene that results in the deposition of...
BACKGROUND
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by bi-allelic pathogenic variants in gene that results in the deposition of cholestanol in the eyes, tendons, soft tissues and nervous system leading to cataracts, xanthomas, and various neuropsychiatric manifestations. The aim of our study is to describe the clinical, radiological and genetic profile of patients with CTX.
METHODS
This is a retrospective chart review of patients with CTX diagnosed based on classical clinical and radiological findings. The available clinical details, and investigations, including imaging, electrophysiological, pathological and genetic data, were documented.
RESULTS
Five patients (4 males) were recruited in the study. The median age at presentation was 32 years (range: 21-66 years). Walking difficulty was the most common symptom at presentation. All patients had cataracts, tendon xanthomas, eye movement abnormalities, dysarthria, pyramidal signs, ataxia and gait abnormality. Dystonia was noted in three patients. Palatal tremor and parkinsonism were noted in one patient each. In MRI brain, dentate, and corticospinal tract involvement were the most frequent imaging findings. Bilateral hypertrophic olivary degeneration was noted in one patient and hot cross bun sign in two. Three patients underwent genetic testing and all had pathogenic variants confirming the diagnosis.
DISCUSSION
CTX is a rare treatable disorder. Apart from the usual neurological presentation with spastic-ataxia, it can present at a later age with parkinsonism. Typical patterns of imaging findings are helpful in early diagnosis which aids in the treatment to prevent the neurological sequelae of the disease.
Topics: Male; Humans; Young Adult; Adult; Middle Aged; Aged; Xanthomatosis, Cerebrotendinous; Cholestanetriol 26-Monooxygenase; Retrospective Studies; Xanthomatosis; Cerebellar Ataxia; Rare Diseases; Cataract; Parkinsonian Disorders
PubMed: 38476584
DOI: 10.5334/tohm.851 -
International Journal of Molecular... Feb 2024Hereditary spastic paraplegias (HSPs) comprise a family of degenerative diseases mostly hitting descending axons of corticospinal neurons. Depending on the gene and... (Review)
Review
Hereditary spastic paraplegias (HSPs) comprise a family of degenerative diseases mostly hitting descending axons of corticospinal neurons. Depending on the gene and mutation involved, the disease could present as a pure form with limb spasticity, or a complex form associated with cerebellar and/or cortical signs such as ataxia, dysarthria, epilepsy, and intellectual disability. The progressive nature of HSPs invariably leads patients to require walking canes or wheelchairs over time. Despite several attempts to ameliorate the life quality of patients that have been tested, current therapeutical approaches are just symptomatic, as no cure is available. Progress in research in the last two decades has identified a vast number of genes involved in HSP etiology, using cellular and animal models generated on purpose. Although unanimously considered invaluable tools for basic research, those systems are rarely predictive for the establishment of a therapeutic approach. The advent of induced pluripotent stem (iPS) cells allowed instead the direct study of morphological and molecular properties of the patient's affected neurons generated upon in vitro differentiation. In this review, we revisited all the present literature recently published regarding the use of iPS cells to differentiate HSP patient-specific neurons. Most studies have defined patient-derived neurons as a reliable model to faithfully mimic HSP in vitro, discovering original findings through immunological and -omics approaches, and providing a platform to screen novel or repurposed drugs. Thereby, one of the biggest hopes of current HSP research regards the use of patient-derived iPS cells to expand basic knowledge on the disease, while simultaneously establishing new therapeutic treatments for both generalized and personalized approaches in daily medical practice.
Topics: Animals; Humans; Spastic Paraplegia, Hereditary; Cerebellar Ataxia; Neurons; Pluripotent Stem Cells; Axons; Mutation
PubMed: 38473862
DOI: 10.3390/ijms25052615 -
Cureus Feb 2024We present the unique case of a 60-year-old female with neurofibromatosis type 1 (NF1) who underwent laser interstitial thermal therapy (LITT) for metastatic malignant...
We present the unique case of a 60-year-old female with neurofibromatosis type 1 (NF1) who underwent laser interstitial thermal therapy (LITT) for metastatic malignant peripheral nerve sheath tumor (MPNST) of the brain. She presented to the emergency room complaining of one week of dysarthria and facial droop. An MRI of the brain demonstrated a homogeneously enhancing left frontal mass; although rare, given her history of pulmonary MPNST, brain invasion was considered likely. No generally accepted guidelines for the treatment of MPNST with cerebral metastases exist; however, LITT was chosen due to tumor morphology and proximity to eloquent brain structures. She did not experience any new or worsening neurological deficits post-operatively. Post-ablation MRI showed white matter edema surrounding the lesion, which is consistent with previously reported cases. This case illustrates the use of LITT for cytoreduction for rare brain metastases located near eloquent brain structures.
PubMed: 38465087
DOI: 10.7759/cureus.53855