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Medical Science Monitor : International... Feb 2022Akinetic mutism (AM) is characterized by the complete absence of spontaneous behavior (akinesia) and speech (mutism) with the preservation of executive functions for... (Review)
Review
A Review of Studies on the Role of Diffusion Tensor Magnetic Resonance Imaging Tractography in the Evaluation of the Fronto-Subcortical Circuit in Patients with Akinetic Mutism.
Akinetic mutism (AM) is characterized by the complete absence of spontaneous behavior (akinesia) and speech (mutism) with the preservation of executive functions for movements and speaking. Elucidation of the pathophysiological mechanisms or neural correlates for AM is clinically important because patients can recover from AM after medication and neuromodulation. The fronto-subcortical circuit is a critically important neural structure in the pathophysiology of AM. Using diffusion tensor tractography, a few neural tracts in the fronto-subcortical circuit can be reconstructed. This mini-review article evaluated 6 DTT-based studies on the fronto-subcortical circuit injury in patients with AM. According to these results, the neural tracts among the fronto-subcortical circuit, which are related to AM, were as follows (in decreasing order of importance): 1) the prefronto-caudate tract, 2) the prefronto-thalamic tract, and 3) the cingulum. In particular, the medial prefrontal cortex is an important brain area related to recovery from AM. However, only 6 studies on this topic have been published, and most were case reports. In addition, these studies analyzed only a few neural tracts in the fronto-subcortical circuit. Because AM is a rare disorder, studies involving a large number of subjects might be impossible. Nevertheless, an analysis of various neural tracts in the fronto-subcortical circuit is necessary. For this, reconstruction of the other neural tracts in the fronto-subcortical circuit should be performed first. This review aims to present the findings from recent studies on the role of DTT in evaluation of fronto-subcortical circuit injury in patients with AK.
Topics: Akinetic Mutism; Diffusion Magnetic Resonance Imaging; Diffusion Tensor Imaging; Humans; Neural Pathways; Prefrontal Cortex
PubMed: 35181647
DOI: 10.12659/MSM.936251 -
Annals of Neurology Aug 2020Coronavirus disease 2019 (COVID-19) infection has the potential for targeting the central nervous system, and several neurological symptoms have been described in...
Coronavirus disease 2019 (COVID-19) infection has the potential for targeting the central nervous system, and several neurological symptoms have been described in patients with severe respiratory distress. Here, we described the case of a 60-year-old patient with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection but only mild respiratory abnormalities who developed an akinetic mutism attributable to encephalitis. Magnetic resonance imaging was negative, whereas electroencephalography showed generalized theta slowing. Cerebrospinal fluid analyses during the acute stage were negative for SARS-CoV-2, positive for pleocytosis and hyperproteinorrachia, and showed increased interleukin-8 and tumor necrosis factor-α concentrations. Other infectious or autoimmune disorders were excluded. A progressive clinical improvement along with a reduction of cerebrospinal fluid parameters was observed after high-dose steroid treatment, thus arguing for an inflammatory-mediated brain involvement related to COVID-19. ANN NEUROL 2020;88:423-427.
Topics: Akinetic Mutism; Antiviral Agents; Betacoronavirus; COVID-19; Coronavirus Infections; Drug Combinations; Electroencephalography; Encephalitis; Glucocorticoids; Humans; Hydroxychloroquine; Interleukin-6; Interleukin-8; Lopinavir; Magnetic Resonance Imaging; Male; Methylprednisolone; Middle Aged; Pandemics; Pneumonia, Viral; Ritonavir; SARS-CoV-2; Treatment Outcome; Tumor Necrosis Factor-alpha; beta 2-Microglobulin; COVID-19 Drug Treatment
PubMed: 32418288
DOI: 10.1002/ana.25783 -
Journal of the American Medical... May 2022To study the prognostic features of Creutzfeldt-Jakob disease (CJD) and shed light on its future therapy.
OBJECTIVES
To study the prognostic features of Creutzfeldt-Jakob disease (CJD) and shed light on its future therapy.
DESIGN
Retrospective cohort study of a longitudinal national cohort of the Taiwan Centers for Disease Control.
SETTING AND PARTICIPANTS
All patients with suspected CJD are reported to the CJD surveillance unit of the Taiwan Centers for Disease Control. An expert committee discussed the reported cases and designated a consensus-based diagnosis. From 1996 to 2020, a total of 809 cases were referred to the CJD surveillance unit for confirmation; of these, 441 cases (women, n = 230) were determined to be sporadic CJD.
METHODS
We investigated the clinical manifestations and laboratory findings for 400 patients diagnosed with definite or probable sporadic CJD. We used Kaplan-Meier analyses and Cox proportional hazards model to identify prognostic factors.
RESULTS
The mean age of onset was 67 ± 9.9 years. The mean survival duration was 13.3 ± 14.2 (median 10) months. The leading clinical symptoms were myoclonus (73%) and akinetic mutism (54%). For PRNP polymorphism, 99% of patients (195/197) showed a methionine homozygous genotype at codon 129 (M129M). The sensitivity of periodic sharp wave complexes (PSWCs) on electroencephalograms (EEGs) was 59.7%. The sensitivity of cerebrospinal fluid 14-3-3 protein and total tau protein (>1200 pg/mL) were 69.7% and 75.6%, respectively. Younger patients lived longer than those aged ≥65 years [hazard ratio (HR) 0.466, P < .001]. Women had a better survival probability in the first 3 years than their male counterparts (HR 0.712, P = .005). PSWCs had a persistent negative effect on survival (HR 0.788, P < .05). Although uncommon, epileptic seizures were the only clinical prognostic factor for survival time (HR 0.768, P < .05). PSWCs can be used as an EEG biomarker for prognosis. Epileptic seizures, though not common, are the only clinical prognostic factor for a short survival.
CONCLUSIONS AND IMPLICATIONS
We found that a lower age of onset and female gender favor the survival of patients with sCJD. PSWCs are EEG biomarkers unfavorable for survival, and so are epileptic seizures.
Topics: Aged; Biomarkers; Creutzfeldt-Jakob Syndrome; Encephalopathy, Bovine Spongiform; Female; Humans; Male; Middle Aged; Prognosis; Retrospective Studies; Seizures; Taiwan
PubMed: 34492219
DOI: 10.1016/j.jamda.2021.08.010 -
Alzheimer Disease and Associated... 2020The clinical presentation in Chinese patients with sporadic Creutzfeldt-Jakob disease (sCJD) may be unique due to the big difference in the codon 129 polymorphism of the...
The clinical presentation in Chinese patients with sporadic Creutzfeldt-Jakob disease (sCJD) may be unique due to the big difference in the codon 129 polymorphism of the prion protein gene (PRNP). This study retrospectively reviewed 26 cases of sCJD diagnosed in a single center in recent years. All 26 sCJD patients received brain magnetic resonance imaging scan, cerebrospinal fluid 14-3-3 protein detection, electroencephalogram, and PRNP gene screening. The codon 129 polymorphism were all homozygous MM in 26 sCJD patients. The main onset symptoms of sCJD patients were rapidly progressive dementia, visual impairment, and cerebellar ataxia. At the time of diagnosis, the incidence of myoclonus and akinetic mutism were relatively low (<50%). For auxiliary examinations, the positive rate of the typical magnetic resonance imaging (MRI) abnormalities, cerebrospinal fluid 14-3-3 protein, and electroencephalogram-periodic sharp wave complex was 96%, 64%, and 50%, respectively. As MM genotype is dominant and brain MRI is sensitive, brain MRI seems to play a major role in diagnosis of sCJD in Chinese.
Topics: 14-3-3 Proteins; Aged; Ataxia; Brain; China; Creutzfeldt-Jakob Syndrome; Electroencephalography; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Myoclonus; Polymorphism, Single Nucleotide; Prion Proteins; Retrospective Studies
PubMed: 31651418
DOI: 10.1097/WAD.0000000000000350 -
Clinical Neurology and Neurosurgery Oct 2019Neurological complications of Epstein Barr virus (EBV) infection are infrequent and may include occasionally encephalitis, usually with a benign evolution. We here...
Neurological complications of Epstein Barr virus (EBV) infection are infrequent and may include occasionally encephalitis, usually with a benign evolution. We here report on an aggressive case of EBV encephalitis in a 14-year-old boy with extensive basal ganglia involvement, and to a lesser degree of brain cortex who presented atypically with akinetic mutism and non-convulsive status epilepticus, requiring intensive care but showed a favorable outcome. EBV encephalitis is uncommon and its best management is unclear. Its pathophysiology is not well understood but could include autoimmunity. Onconeuronal and synaptic antibodies were negative in serum and cerebrospinal fluid, including the dopamine D2 receptor. To the best of our knowledge, this is the first report to evaluate antibodies to D2 receptors in EBV encephalitis. Corticosteroid therapy is usually recommended but the use of acyclovir is controversial. Intensive care is required in severe cases to assure a favorable outcome.
Topics: Adolescent; Akinetic Mutism; Anticonvulsants; Autoantibodies; Basal Ganglia Diseases; Brain Edema; Chromonar; Electroencephalography; Encephalitis, Viral; Epstein-Barr Virus Infections; Glucocorticoids; Humans; Magnetic Resonance Imaging; Male; Methylprednisolone; Receptors, Dopamine D2; Recovery of Function; Status Epilepticus
PubMed: 31470359
DOI: 10.1016/j.clineuro.2019.105492 -
Prion May 2017Patients with prion diseases can live for long periods of time in a state of akinetic mutism given appropriate management of their symptoms. To study symptom support in...
Patients with prion diseases can live for long periods of time in a state of akinetic mutism given appropriate management of their symptoms. To study symptom support in these cases, we performed gastrostomies on 3 patients with V180I genetic Creutzfeldt-Jakob disease (CJD) who had become akinetic and mute, and compared them to 14 other similar patients being fed by tube. In the 3 gastrostomy cases, there were no direct complications due to the gastrostomy or tube feeding, nor were there episodes of discontinuation of tube feeding or initiation of continuous drip infusion due to severe complications. Antibiotics were administered for mild infections, a complication of CJD, with 0.2% and 8.8% of the total time after gastrostomy being used for intravenous or transluminal administration, respectively. We compared the present patient series with that of our previous report statistically, and found that patients undergoing gastrostomy required significantly fewer discontinuations of tube feeding than those who did not. No significant difference in antibiotic administration was found between groups, however. It is our conclusion that gastrostomy should be allowed for symptom support in akinetic patients with prion disease, but adequate informed consent must be provided to the patient's family.
Topics: Aged; Akinetic Mutism; Anti-Bacterial Agents; Creutzfeldt-Jakob Syndrome; Enteral Nutrition; Female; Gastrostomy; Humans; Infusions, Intravenous; Prion Diseases
PubMed: 28509623
DOI: 10.1080/19336896.2017.1306164 -
Prion Dec 2020Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare, incurable, and fatal neurodegenerative disorder. The objective of this study was to describe the clinical features...
Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare, incurable, and fatal neurodegenerative disorder. The objective of this study was to describe the clinical features and survival time of Chinese sCJD patients, and to explore the associations between clinical data and survival. In this study, we analysed the clinical data of 21 sCJD patients in a tertiary care hospital and used all Chinese case material available from 152 patients with sCJD in literatures between 2008 and 2018. The mean age of onset of all 173 deceased patients was 61.44 year-olds (y), with the highest incidence in the population of 60 to 69 y. The most common manifestation at disease onset was progressive dementia. With the progression of the disease, the four main clinical symptoms and signs were developed, including myoclonus, visual or cerebella disturbance, pyramidal or extrapyramidal dysfunction, and akinetic mutism. Extrapyramidal symptoms were more frequently observed. The mean survival time was 7.34 months, and 82.10% of cases died within 1 year after disease onset. The follow-up showed that the survival time was longer and the myoclonus sign was more frequently presented in younger-onset sCJD patients. Patients with abnormalities only in cortical regions had a higher frequency of pyramidal dysfunction than patients having lesions in both cortex and basal ganglia. The findings of this study might provide some insight into the clinical characteristics of sCJD patients in China, but further studies could examine the presences of clinical features and survival time in patients with early age of onset in a prospective manner.
Topics: Aged; Aged, 80 and over; Asian People; China; Creutzfeldt-Jakob Syndrome; Female; Humans; Male; Middle Aged; Survival Analysis
PubMed: 32378453
DOI: 10.1080/19336896.2020.1761515 -
Case Reports in Psychiatry 2021. Catatonia is caused by a variety of psychiatric and organic conditions. The onset, clinical profile, and response to treatment may vary depending on the underlying...
. Catatonia is caused by a variety of psychiatric and organic conditions. The onset, clinical profile, and response to treatment may vary depending on the underlying cause. Catatonia is more likely to be associated with neurotic and psychotic disorders, but some psychiatric symptoms are key components in the clinical presentation of other medical conditions. . We report the case of a woman who started showing paroxysmal recurrent episodes since the age of 57 years, characterized by surrounding disconnection, disorientation, and muscle spasm (myoclonus), followed by a postictal state. In the following months, the symptoms evolved to akinetic mutism, catatonia, and rapidly progressive vision and audition loss. She underwent a battery of tests, most of them inconclusive, until a neoplastic meningoencephalitis was diagnosed after more than two years of symptoms. Numerous medical conditions can mimic psychiatric disorders. This uncommon presentation may lead to a late diagnosis and treatment initiation, increasing significantly morbidity and mortality. A differential diagnosis with infectious, autoimmune, and neoplastic etiologies should always be carried out.
PubMed: 34745679
DOI: 10.1155/2021/5936673 -
Frontiers in Neurology 2023Parkinsonism and akinetic mutism (AM) following ventriculo-peritoneal shunt (VPS) without underdrainage used to be considered rare, but may be underdiagnosed in daily...
BACKGROUND
Parkinsonism and akinetic mutism (AM) following ventriculo-peritoneal shunt (VPS) without underdrainage used to be considered rare, but may be underdiagnosed in daily clinical practice. Although the pathophysiology is still unclear, in several case reports, the parkinsonism and AM after VPS shows responsiveness to dopaminergic treatment.
CASE PRESENTATION
We report a 19-year-old male that presented with severe parkinsonism and AM after VPS. Meanwhile, F-FDG-PET showed a cortical and subcortical hypometabolism. Fortunately, levodopa dramatically improved patient's symptoms and brain hypometabolism. This report provides support for the possibility that dopamine deficiency inhibits brain metabolism, and further elucidates the pathogenesis of parkinsonism and AM.
CONCLUSION
This report highlights the presentation of a treatable parkinsonism and points out that Levodopa and/or dopamine agonist should be the first choice if the patients develop parkinson-like symptoms after VPS.
PubMed: 37332998
DOI: 10.3389/fneur.2023.1184713 -
European Journal of Neurology Sep 2016Akinetic mutism is thought to be an appropriate therapeutic end-point in patients with sporadic Creutzfeldt-Jakob disease (sCJD). However, prognostic factors for...
BACKGROUND AND PURPOSE
Akinetic mutism is thought to be an appropriate therapeutic end-point in patients with sporadic Creutzfeldt-Jakob disease (sCJD). However, prognostic factors for akinetic mutism are unclear and clinical signs or symptoms that precede this condition have not been defined. The goal of this study was to identify prognostic factors for akinetic mutism and to clarify the order of clinical sign and symptom development prior to its onset.
METHODS
The cumulative incidence of akinetic mutism and other clinical signs and symptoms was estimated based on Japanese CJD surveillance data (455 cases) collected from 2003 to 2008. A proportional hazards model was used to identify prognostic factors for the time to onset of akinetic mutism and other clinical signs and symptoms.
RESULTS
Periodic synchronous discharges on electroencephalography were present in the majority of cases (93.5%). The presence of psychiatric symptoms or cerebellar disturbance at sCJD diagnosis was associated with the development of akinetic mutism [hazard ratio (HR) 1.50, 95% confidence interval (CI) 1.14-1.99, and HR 2.15, 95% CI1.61-2.87, respectively]. The clinical course from cerebellar disturbance to myoclonus or akinetic mutism was classified into three types: (i) direct path, (ii) path via pyramidal or extrapyramidal dysfunction and (iii) path via psychiatric symptoms or visual disturbance.
CONCLUSIONS
The presence of psychiatric symptoms or cerebellar disturbance increased the risk of akinetic mutism of sCJD cases with probable MM/MV subtypes. Also, there appear to be sequential associations in the development of certain clinical signs and symptoms of this disease.
Topics: Adult; Aged; Aged, 80 and over; Akinetic Mutism; Cerebellar Diseases; Creutzfeldt-Jakob Syndrome; Disease Progression; Electroencephalography; Female; Humans; Incidence; Magnetic Resonance Imaging; Male; Mental Disorders; Middle Aged; Myoclonus; Predictive Value of Tests; Prognosis
PubMed: 27222346
DOI: 10.1111/ene.13057