Diagnostics

Research

11 pages, 1209 KiB

Open AccessArticle

Cognitive Impairment in MRI-Negative Epilepsy: Relationship between Neurophysiological and Neuropsychological Measures

by Vasileios Papaliagkas, Chrysanthi Lokantidou-Argyraki, Panayiotis Patrikelis, Georgia Zafeiridou, Martha Spilioti, Theodora Afrantou, Mary H. Kosmidis, Marianthi Arnaoutoglou and Vasileios K. Kimiskidis

Diagnostics 2023, 13(18), 2875; https://doi.org/10.3390/diagnostics13182875 - 7 Sep 2023

Cited by 1 | Viewed by 1120

Abstract

Background: Epileptic patients frequently encounter cognitive impairment. Functions that are mostly affected involve memory, attention, and executive function; however, this is mainly dependent on the location of the epileptic activity. The aim of the present study is to assess cognitive functions in MRI-negative [...] Read more.

Background: Epileptic patients frequently encounter cognitive impairment. Functions that are mostly affected involve memory, attention, and executive function; however, this is mainly dependent on the location of the epileptic activity. The aim of the present study is to assess cognitive functions in MRI-negative epilepsy patients by means of neurophysiological and neuropsychological measures, as well as study the concept of transient cognitive impairment in patients with epileptiform discharges during EEG acquisition. Methods: The patients were enrolled from an outpatient Epilepsy/Clinical Neurophysiology clinic over a time period of 6 months. The study sample comprised 20 MRI-negative epilepsy patients (mean age ± standard deviation (SD), 30.3 ± 12.56 years; age range, 16–60 years; average disease duration, 13.95 years) and 10 age-matched controls (mean age ± SD, 24.22 ± 15.39 years), who were also education-matched (p > 0.05). Patients with epileptogenic lesions were excluded from the study. Informed consent was obtained from all subjects involved in the study. Auditory ERPs and the cognitive screening tool EpiTrack were administered to all subjects. Results: Latencies of P300 and slow waves were prolonged in patients compared to controls (p < 0.05). The ASM load and patients’ performance in the EpiTrack maze subtest were the most significant predictors of P300 latency. A decline in the memory, attention, and speed of information processing was observed in patients with cryptogenic epilepsy compared to age-matched controls, as reflected by P300 latency and EpiTrack scores. Full article

(This article belongs to the Special Issue Advances in the Diagnosis of Nervous System Diseases)

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13 pages, 1001 KiB

Open AccessArticle

Brain Volumes and Metacognitive Deficits in Knowledge of Self, Task and Strategies in Mathematics: A Preliminary Pilot One-Year Longitudinal Study in aMCI Patients Compared to Healthy Controls

by Vaitsa Giannouli and Magdalini Tsolaki

Diagnostics 2023, 13(4), 680; https://doi.org/10.3390/diagnostics13040680 - 11 Feb 2023

Cited by 4 | Viewed by 1599

Abstract

Metacognitive knowledge has been little investigated in aMCI patients. The aim of this study is to examine whether there are specific deficits in knowledge of self, task and strategies in mathematical cognition, due its importance for everyday functioning, mainly due to its importance [...] Read more.

Metacognitive knowledge has been little investigated in aMCI patients. The aim of this study is to examine whether there are specific deficits in knowledge of self, task and strategies in mathematical cognition, due its importance for everyday functioning, mainly due to its importance for financial capacity in old age. A total of 24 patients with a diagnosis of aMCI and one-to-one 24 matched individuals (similar age, education and gender) were examined at three time points in a year with a number of neuropsychological tests and a slightly modified version of the Metacognitive Knowledge in Mathematics Questionnaire (MKMQ). We analyzed longitudinal MRI data regarding various brain areas for the aMCI patients. Results indicated that the aMCI group differed in all MKMQ subscale scores at the three time points compared to healthy controls. Correlations were found only for metacognitive avoidance strategies and left and right amygdala volumes at baseline, while after twelve months correlations were found for avoidance and right and left parahippocampal volumes. These preliminary results highlight the role of specific brain regions that could be used as indices in clinical practice for the detection of metacognitive knowledge deficits that are found in aMCI. Full article

(This article belongs to the Special Issue Advances in the Diagnosis of Nervous System Diseases)

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29 pages, 2216 KiB

Open AccessArticle

R4Alz-Revised: A Tool Able to Strongly Discriminate ‘Subjective Cognitive Decline’ from Healthy Cognition and ‘Minor Neurocognitive Disorder’

by Eleni Poptsi, Despina Moraitou, Emmanouil Tsardoulias, Andreas L. Symeonidis, Vasileios Papaliagkas and Magdalini Tsolaki

Diagnostics 2023, 13(3), 338; https://doi.org/10.3390/diagnostics13030338 - 17 Jan 2023

Cited by 2 | Viewed by 2067

Abstract

Background: The diagnosis of the minor neurocognitive diseases in the clinical course of dementia before the clinical symptoms’ appearance is the holy grail of neuropsychological research. The R4Alz battery is a novel and valid tool that was designed to assess cognitive control in [...] Read more.

Background: The diagnosis of the minor neurocognitive diseases in the clinical course of dementia before the clinical symptoms’ appearance is the holy grail of neuropsychological research. The R4Alz battery is a novel and valid tool that was designed to assess cognitive control in people with minor cognitive disorders. The aim of the current study is the R4Alz battery’s extension (namely R4Alz-R), enhanced by the design and administration of extra episodic memory tasks, as well as extra cognitive control tasks, towards improving the overall R4Alz discriminant validity. Methods: The study comprised 80 people: (a) 20 Healthy adults (HC), (b) 29 people with Subjective Cognitive Decline (SCD), and (c) 31 people with Mild Cognitive Impairment (MCI). The groups differed in age and educational level. Results: Updating, inhibition, attention switching, and cognitive flexibility tasks discriminated SCD from HC (p ≤ 0.003). Updating, switching, cognitive flexibility, and episodic memory tasks discriminated SCD from MCI (p ≤ 0.001). All the R4Alz-R’s tasks discriminated HC from MCI (p ≤ 0.001). The R4Alz-R was free of age and educational level effects. The battery discriminated perfectly SCD from HC and HC from MCI (100% sensitivity—95% specificity and 100% sensitivity—90% specificity, respectively), whilst it discriminated excellently SCD from MCI (90.3% sensitivity—82.8% specificity). Conclusion: SCD seems to be stage a of neurodegeneration since it can be objectively evaluated via the R4Alz-R battery, which seems to be a useful tool for early diagnosis. Full article

(This article belongs to the Special Issue Advances in the Diagnosis of Nervous System Diseases)

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10 pages, 854 KiB

Open AccessArticle

Clinical Utility of Boston-CTS and Six-Item CTS Questionnaires in Carpal Tunnel Syndrome Associated with Diabetic Polyneuropathy

by Nicu Cătălin Drăghici, Daniel-Corneliu Leucuța, Dana Mihaela Ciobanu, Adina Dora Stan, Tudor Dimitrie Lupescu and Dafin Fior Mureșanu

Diagnostics 2023, 13(1), 4; https://doi.org/10.3390/diagnostics13010004 - 20 Dec 2022

Cited by 3 | Viewed by 1748

Abstract

Diabetic polyneuropathy (DPN) is the most frequent complication of diabetes. Carpal tunnel syndrome (CTS), one of the most common neuropathies, is a chronic compression of the median nerve at the wrist. In our prospective cross-sectional study, we enrolled patients with type 2 diabetes [...] Read more.

Diabetic polyneuropathy (DPN) is the most frequent complication of diabetes. Carpal tunnel syndrome (CTS), one of the most common neuropathies, is a chronic compression of the median nerve at the wrist. In our prospective cross-sectional study, we enrolled patients with type 2 diabetes presenting with signs and symptoms suggestive of DPN (n = 53). We aimed to compare two clinical scales: the Boston Carpal Tunnel Syndrome Questionnaire (BCTQ) and the six-item CTS symptoms scale (CTS-6), with nerve conduction studies (NCS) for detecting CTS in patients with DPN. Carpal tunnel syndrome and DPN were clinically evaluated, and the diagnosis was confirmed by NCS. Depending on the NCS parameters, the study group was divided into patients with and without DPN. For each group, we selected patients with CTS confirmed through NCS, and the results were compared with the BCTQ and CTS-6 scales. The clinical evaluation of CTS performed through BCTQ and CTS-6 was statistically significantly different between patients with and without CTS. When comparing the BCTQ questionnaire with the NCS tests, we found area under the curve (AUC) = 0.76 (95% CI 0.65–0.86) in patients with neuropathy and AUC = 0.72 (95% CI 0.55–0.88) in patients without neuropathy. At the same time, the AUC values of the CTS-6 scale were 0.76 (95% CI 0.61–0.88) in patients with neuropathy and 0.70 (95% CI 0.51–0.86) in patients without neuropathy. Using multiple logistic regression, we demonstrated that DPN increased the chances of detecting CTS using the two questionnaires. The Boston Carpal Tunnel Syndrome and CTS-6 questionnaires can be used in the diagnosis of CTS in diabetic patients with and without DPN but with moderate AUC. The presence of DPN increased the chances of detecting CTS using the BCTQ questionnaire and the CTS-6 scale. Full article

(This article belongs to the Special Issue Advances in the Diagnosis of Nervous System Diseases)

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24 pages, 2027 KiB

Open AccessArticle

Trajectories of Cognitive Impairment in Adults Bearing Vascular Risk Factors, with or without Diagnosis of Mild Cognitive Impairment: Findings from a Longitudinal Study Assessing Executive Functions, Memory, and Social Cognition

by Glykeria Tsentidou, Despina Moraitou, Magdalini Tsolaki, Elvira Masoura and Vasileios Papaliagkas

Diagnostics 2022, 12(12), 3017; https://doi.org/10.3390/diagnostics12123017 - 2 Dec 2022

Cited by 4 | Viewed by 1839

Abstract

With the aging of the population, a key concern of both societies and health services is to keep the population cognitively healthy until the maximum age limit. It is a well-known fact that vascular aging has a negative effect on the cognitive skills [...] Read more.

With the aging of the population, a key concern of both societies and health services is to keep the population cognitively healthy until the maximum age limit. It is a well-known fact that vascular aging has a negative effect on the cognitive skills of adults, putting them at greater risk of developing dementia. The present longitudinal study aimed to evaluate the main dimensions of cognition in two pathological groups with different health profiles: a group of adults with vascular risk factors (VRF) (n = 35) and a group of adults with vascular risk factors and mild cognitive impairment (VRF + MCI) (n = 35). The two groups were matched in age, education, and gender. They were assessed with extensive neuropsychological testing at three different times with a distance of about 8 months between them; the assessment regarded executive functions, memory capacity, and Theory of Mind abilities. The analyses carried out were (a) mixed-measures ANOVA, (b) repeated measures ANOVA, and (c) ANOVA. The findings showed that global cognitive status and short-term memory are the main cognitive abilities that decline in community dwelling people bearing VRF. Hence, this group of adults should be examined at least every 2 years for this decline. As regards people with both VRF and MCI, it seems that the assessment of Theory of Mind abilities can better capture their further impairment. Global cognitive status, task/rule switching function, and long-term memory (delayed verbal recall) were revealed as the abilities that clearly and steadily differentiate VRF people with and without MCI. Full article

(This article belongs to the Special Issue Advances in the Diagnosis of Nervous System Diseases)

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26 pages, 4345 KiB

Open AccessArticle

Application of Machine Learning in Epileptic Seizure Detection

by Ly V. Tran, Hieu M. Tran, Tuan M. Le, Tri T. M. Huynh, Hung T. Tran and Son V. T. Dao

Diagnostics 2022, 12(11), 2879; https://doi.org/10.3390/diagnostics12112879 - 21 Nov 2022

Cited by 21 | Viewed by 3954

Abstract

Epileptic seizure is a neurological condition caused by short and unexpectedly occurring electrical disruptions in the brain. It is estimated that roughly 60 million individuals worldwide have had an epileptic seizure. Experiencing an epileptic seizure can have serious consequences for the patient. Automatic [...] Read more.

Epileptic seizure is a neurological condition caused by short and unexpectedly occurring electrical disruptions in the brain. It is estimated that roughly 60 million individuals worldwide have had an epileptic seizure. Experiencing an epileptic seizure can have serious consequences for the patient. Automatic seizure detection on electroencephalogram (EEG) recordings is essential due to the irregular and unpredictable nature of seizures. By thoroughly analyzing EEG records, neurophysiologists can discover important information and patterns, and proper and timely treatments can be provided for the patients. This research presents a novel machine learning-based approach for detecting epileptic seizures in EEG signals. A public EEG dataset from the University of Bonn was used to validate the approach. Meaningful statistical features were extracted from the original data using discrete wavelet transform analysis, then the relevant features were selected using feature selection based on the binary particle swarm optimizer. This facilitated the reduction of 75% data dimensionality and 47% computational time, which eventually sped up the classification process. After having been selected, relevant features were used to train different machine learning models, then hyperparameter optimization was utilized to further enhance the models’ performance. The results achieved up to 98.4% accuracy and showed that the proposed method was very effective and practical in detecting seizure presence in EEG signals. In clinical applications, this method could help relieve the suffering of epilepsy patients and alleviate the workload of neurologists. Full article

(This article belongs to the Special Issue Advances in the Diagnosis of Nervous System Diseases)

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6 pages, 233 KiB

Open AccessCommunication

Groin Puncture to Recanalization Time May Be a Strong Predictor of mTICI 2c/3 over mTICI 2b in Patients with Large Vessel Occlusions Successfully Recanalized with Mechanical Thrombectomy

by Richard Wang, Alperen Aslan, Neda Khalili, Tushar Garg, Apoorva Kotha, Omar Hamam, Meisam Hoseinyazdi and Vivek Yedavalli

Diagnostics 2022, 12(10), 2557; https://doi.org/10.3390/diagnostics12102557 - 21 Oct 2022

Cited by 2 | Viewed by 1798

Abstract

Mechanical thrombectomy (MT) is an important therapeutic option in the management of acute ischemic stroke (AIS) caused by large vessel occlusions (LVO). While achieving a modified thrombolysis in cerebral infarction (mTICI), grades of 2b, 2c, and 3 are all considered successful recanalization; recent [...] Read more.

Mechanical thrombectomy (MT) is an important therapeutic option in the management of acute ischemic stroke (AIS) caused by large vessel occlusions (LVO). While achieving a modified thrombolysis in cerebral infarction (mTICI), grades of 2b, 2c, and 3 are all considered successful recanalization; recent literature suggests that mTICI grades of 2c/3 are associated with superior outcomes than 2b. The aim of this preliminary study is to determine whether any baseline or procedural parameters can predict whether successfully recanalized patients achieve an mTICI grade of 2c/3 over 2b. Consecutive patients from 9/2019 to 10/2021 who were successfully recanalized following MT for confirmed LVO were included in the study. Baseline and procedural data were collected through manual chart review and analyzed to ascertain whether any variables of interest could predict mTICI 2c/3. A total of 47 patients were included in the preliminary study cohort, with 35 (74.5%) achieving an mTICI score of 2c/3 and 12 (25.5%) achieving an mTICI score of 2b. We found that a lower groin puncture to recanalization time was a strong, independent predictor of TICI 2c/3 (p = 0.015). These findings emphasize the importance of minimizing procedure time in achieving superior reperfusion but must be corroborated in larger scale studies. Full article

(This article belongs to the Special Issue Advances in the Diagnosis of Nervous System Diseases)

13 pages, 252 KiB

Open AccessArticle

Metacognitive Scales: Assessing Metacognitive Knowledge in Older Adults Using Everyday Life Scenarios

by Grigoria Bampa, Despina Kouroglou, Panagiota Metallidou, Magdalini Tsolaki, Georgios Kougioumtzis, Georgia Papantoniou, Maria Sofologi and Despina Moraitou

Diagnostics 2022, 12(10), 2410; https://doi.org/10.3390/diagnostics12102410 - 5 Oct 2022

Cited by 3 | Viewed by 1814

Abstract

The multidimensional effect of aging on cognition and its interference with daily functioning is well reported by many studies. Therefore, the ability to detect age-related cognitive changes is of great importance for older adults to help compensate for cognitive decline. For that, metacognition [...] Read more.

The multidimensional effect of aging on cognition and its interference with daily functioning is well reported by many studies. Therefore, the ability to detect age-related cognitive changes is of great importance for older adults to help compensate for cognitive decline. For that, metacognition and its course of change across the lifespan of a person have attracted considerable scientific interest. The aim of the present study is to present three new self-report questionnaires, developed to measure older adults’ metacognitive knowledge for everyday memory (MKEM), metacognitive knowledge for everyday attention (MKEA), and metacognitive knowledge for everyday executive functions (MKEEFs). The questionnaires were tested for structural validity and reliability. A sample size of 171 community-dwelling adults of advancing age (97 females and 74 males) voluntarily participated in this study and their ages ranged from 50 to 82 years (mean = 59.32, SD = 7.39). Exploratory factor analysis using principal component analysis with varimax rotation was applied to examine structural validity. The results revealed a one-factor structure for the MKEM with high internal consistency (α = 0.88), a two-factor structure for the MKEA, that reflected “divided and shifted attention” (α = 0.74) and “concentration” (α = 0.75), and a two-factor structure for the MKEEFs that reflected “planning” (α = 0.70) and “inhibition” (α = 0.65). The variables created for each factor respectively showed significant positive correlations between each other. Full article

(This article belongs to the Special Issue Advances in the Diagnosis of Nervous System Diseases)

Review

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26 pages, 5462 KiB

Open AccessReview

Pathomorphological Diagnostic Criteria for Focal Cortical Dysplasias and Other Common Epileptogenic Lesions—Review of the Literature

by Dimitar Metodiev, Krassimir Minkin, Margarita Ruseva, Rumiana Ganeva, Dimitar Parvanov and Sevdalin Nachev

Diagnostics 2023, 13(7), 1311; https://doi.org/10.3390/diagnostics13071311 - 31 Mar 2023

Cited by 3 | Viewed by 3969

Abstract

Focal cortical dysplasia (FCD) represents a heterogeneous group of morphological changes in the brain tissue that can predispose the development of pharmacoresistant epilepsy (recurring, unprovoked seizures which cannot be managed with medications). This group of neurological disorders affects not only the cerebral cortex [...] Read more.

Focal cortical dysplasia (FCD) represents a heterogeneous group of morphological changes in the brain tissue that can predispose the development of pharmacoresistant epilepsy (recurring, unprovoked seizures which cannot be managed with medications). This group of neurological disorders affects not only the cerebral cortex but also the subjacent white matter. This work reviews the literature describing the morphological substrate of pharmacoresistant epilepsy. All illustrations presented in this study are obtained from brain biopsies from refractory epilepsy patients investigated by the authors. Regarding classification, there are three main FCD types, all of which involve cortical dyslamination. The 2022 revision of the International League Against Epilepsy (ILAE) FCD classification includes new histologically defined pathological entities: mild malformation of cortical development (mMCD), mild malformation of cortical development with oligodendroglial hyperplasia in frontal lobe epilepsy (MOGHE), and “no FCD on histopathology”. Although the pathomorphological characteristics of the various forms of focal cortical dysplasias are well known, their aetiologic and pathogenetic features remain elusive. The identification of genetic variants in FCD opens an avenue for novel treatment strategies, which are of particular utility in cases where total resection of the epileptogenic area is impossible. Full article

(This article belongs to the Special Issue Advances in the Diagnosis of Nervous System Diseases)

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40 pages, 4913 KiB

Open AccessReview

A Review of the Recent Advances in Alzheimer’s Disease Research and the Utilization of Network Biology Approaches for Prioritizing Diagnostics and Therapeutics

by Rima Hajjo, Dima A. Sabbah, Osama H. Abusara and Abdel Qader Al Bawab

Diagnostics 2022, 12(12), 2975; https://doi.org/10.3390/diagnostics12122975 - 28 Nov 2022

Cited by 12 | Viewed by 6599

Abstract

Alzheimer’s disease (AD) is a polygenic multifactorial neurodegenerative disease that, after decades of research and development, is still without a cure. There are some symptomatic treatments to manage the psychological symptoms but none of these drugs can halt disease progression. Additionally, over the [...] Read more.

Alzheimer’s disease (AD) is a polygenic multifactorial neurodegenerative disease that, after decades of research and development, is still without a cure. There are some symptomatic treatments to manage the psychological symptoms but none of these drugs can halt disease progression. Additionally, over the last few years, many anti-AD drugs failed in late stages of clinical trials and many hypotheses surfaced to explain these failures, including the lack of clear understanding of disease pathways and processes. Recently, different epigenetic factors have been implicated in AD pathogenesis; thus, they could serve as promising AD diagnostic biomarkers. Additionally, network biology approaches have been suggested as effective tools to study AD on the systems level and discover multi-target-directed ligands as novel treatments for AD. Herein, we provide a comprehensive review on Alzheimer’s disease pathophysiology to provide a better understanding of disease pathogenesis hypotheses and decipher the role of genetic and epigenetic factors in disease development and progression. We also provide an overview of disease biomarkers and drug targets and suggest network biology approaches as new tools for identifying novel biomarkers and drugs. We also posit that the application of machine learning and artificial intelligence to mining Alzheimer’s disease multi-omics data will facilitate drug and biomarker discovery efforts and lead to effective individualized anti-Alzheimer treatments. Full article

(This article belongs to the Special Issue Advances in the Diagnosis of Nervous System Diseases)

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Other

Jump to: Research, Review

14 pages, 684 KiB

Open AccessSystematic Review

A Systematic Review of PET Contrasted with MRI for Detecting Crossed Cerebellar Diaschisis in Patients with Neurodegenerative Diseases

by Shailendra Mohan Tripathi, Naif Ali Majrashi, Ali S. Alyami, Wael A. Ageeli and Turkey A. Refaee

Diagnostics 2023, 13(10), 1674; https://doi.org/10.3390/diagnostics13101674 - 9 May 2023

Cited by 1 | Viewed by 2111

Abstract

There has not been extensive research into crossed cerebellar diaschisis (CCD) in neurodegenerative disorders. CCD is frequently detected using positron emission tomography (PET). However, advanced MRI techniques have come forth for the detection of CCD. The correct diagnosis of CCD is crucial for [...] Read more.

There has not been extensive research into crossed cerebellar diaschisis (CCD) in neurodegenerative disorders. CCD is frequently detected using positron emission tomography (PET). However, advanced MRI techniques have come forth for the detection of CCD. The correct diagnosis of CCD is crucial for the care of neurological patients and those with neurodegenerative conditions. The purpose of this study is to determine whether PET can offer extra value over MRI or an advanced technique in MRI for detecting CCD in neurological conditions. We searched three main electronic databases from 1980 until the present and included only English and peer-reviewed journal articles. Eight articles involving 1246 participants met the inclusion criteria, six of which used PET imaging while the other two used MRI and hybrid imaging. The findings in PET studies showed decreased cerebral metabolism in the frontal, parietal, temporal, and occipital cortices, as on the opposite side of the cerebellar cortex. However, the findings in MRI studies showed decreased cerebellar volumes. This study concludes that PET is a common, accurate, and sensitive technique for detecting both crossed cerebellar and uncrossed basal ganglia as well as thalamic diaschisis in neurodegenerative diseases, while MRI is better for measuring brain volume. This study suggests that PET has a higher diagnostic value for diagnosing CCD compared to MRI, and that PET is a more valuable technique for predicting CCD. Full article

(This article belongs to the Special Issue Advances in the Diagnosis of Nervous System Diseases)

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9 pages, 4127 KiB

Open AccessCase Report

A Unique Observation of a Patient with Vulto-van Silfhout-de Vries Syndrome

by Natalia Bodunova, Maria Vorontsova, Igor Khatkov, Elena Baranova, Svetlana Bykova, Daniil Degterev, Maria Litvinova, Airat Bilyalov, Maria Makarova, Olesya Sagaydak and Anastasia Danishevich

Diagnostics 2022, 12(8), 1887; https://doi.org/10.3390/diagnostics12081887 - 4 Aug 2022

Cited by 1 | Viewed by 2376

Abstract

Introduction: Vulto-van Silfhout-de Vries Syndrome (VSVS; OMIM#615828) is a rare hereditary disease associated with impaired intellectual development and speech, delayed psychomotor development, and behavioral anomalies, including autistic behavioral traits and poor eye contact. To date, 27 patients with VSVS have been reported in [...] Read more.

Introduction: Vulto-van Silfhout-de Vries Syndrome (VSVS; OMIM#615828) is a rare hereditary disease associated with impaired intellectual development and speech, delayed psychomotor development, and behavioral anomalies, including autistic behavioral traits and poor eye contact. To date, 27 patients with VSVS have been reported in the literature. Materials and Methods: We describe a 23-year-old male patient with autism spectrum disorder (ASD) who was admitted to the gastroenterological hospital with signs of pseudomembranous colitis. ASD was first noted in the patient at the age of 2.5 years. Later, he developed epileptic seizures and important growth retardation. Prior to the hospitalization, chromosomal aberrations, Fragile X syndrome, and aminoacidopathies/aminoacidurias associated with ASD were excluded. Whole-genome sequencing (WGS) was prescribed to the patient at 23 years old. Results: The patient had a heterozygous carrier of “de novo” variant c.662C > T (p.S221L) in exon 4 of the DEAF1 gene. c.662C > T had not been previously described in genomic databases. According to the ACMG criteria, this missense variant was considered to be pathogenic. VSVS was diagnosed in the patient. Conclusions: The phenotype of the patient is very similar to the data presented in the world literature. However, growth retardation and cachexia, which have not been described previously in the articles, are of interest. Full article

(This article belongs to the Special Issue Advances in the Diagnosis of Nervous System Diseases)

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13 pages, 563 KiB

Open AccessSystematic Review

Relevance of Nerve Biopsy in the Diagnosis of Chronic Inflammatory Demyelinating Polyneuropathy—A Systematic Review

by Elena-Sonia Moise, Razvan Matei Bratu, Andreea Hanganu and Maria Sajin

Diagnostics 2022, 12(7), 1691; https://doi.org/10.3390/diagnostics12071691 - 11 Jul 2022

Cited by 6 | Viewed by 2128

Abstract

Chronic Inflammatory Demyelinating Polyneuropathy is an immune-mediated pathology of the peripheral nerves and nerve roots that leads to weakness and sensory symptoms. Given its clinical heterogeneity, often times diagnosis is challenging. Even though nerve conduction studies and clinical features are the main criteria [...] Read more.

Chronic Inflammatory Demyelinating Polyneuropathy is an immune-mediated pathology of the peripheral nerves and nerve roots that leads to weakness and sensory symptoms. Given its clinical heterogeneity, often times diagnosis is challenging. Even though nerve conduction studies and clinical features are the main criteria used for diagnosis, supplementary investigations, such as nerve biopsies, cerebral spinal fluid examination and magnetic resonance studies, may be used in order to confirm the diagnosis. Given the fact that the hallmark in CIDP physiopathology is the demyelination process, nerve biopsies are used to demonstrate and assess the magnitude of the phenomenon. The question and the main interest of this review is whether histopathological findings are relevant for the diagnosis and can be useful in disease assessment. Full article

(This article belongs to the Special Issue Advances in the Diagnosis of Nervous System Diseases)

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8 pages, 1901 KiB

Open AccessCase Report

Case Report: A Case of Creutzfeldt–Jakob Heidenhain Variant Simulating PRES

by Annibale Antonioni, Emanuela Maria Raho, Andrea Gozzi, Niccolò Cotta Ramusino, Edward Cesnik, Marina Padroni, Alessandro De Vito, Maura Pugliatti and Valeria Tugnoli

Diagnostics 2022, 12(7), 1558; https://doi.org/10.3390/diagnostics12071558 - 27 Jun 2022

Cited by 1 | Viewed by 2516

Abstract

The Heidenhain Variant of Creutzfeldt–Jakob disease (CJD) is an uncommon early clinical syndrome of the otherwise regular sporadic CJD, which belongs to the group of prion diseases caused by a transmissible agent, the misfolded form of the prion protein. The most characteristic symptoms [...] Read more.

The Heidenhain Variant of Creutzfeldt–Jakob disease (CJD) is an uncommon early clinical syndrome of the otherwise regular sporadic CJD, which belongs to the group of prion diseases caused by a transmissible agent, the misfolded form of the prion protein. The most characteristic symptoms of CJD are rapidly progressive cognitive impairment, typical motor manifestations and mental and behavioural changes. Conversely, in the Heidenhain Variant, different kinds of visual disturbances are observed at onset due to microvacuolar spongiform degeneration or, less frequently, confluent spongiform changes in the parieto-occipital area, detectable through brain MRI with hyperintensity in T2-FLAIR or DWI in the same areas. Since this an extremely rare condition with a heterogeneous clinical presentation, it may easily be misdiagnosed with other diseases at the earlier stages. Here, we describe the case of a patient initially diagnosed with posterior reversible encephalopathy syndrome (PRES), presenting with visual disturbances and headache at onset in a context of poorly controlled arterial hypertension. Subsequently, a rapid worsening of cognitive decline, associated with myoclonus and startle reaction led to further investigations, shifting the diagnosis toward a rapidly evolving neurodegenerative form. This hypothesis was also supported by EEG traces, MRI and CSF analysis. Finally, the clinical–instrumental evolution confirmed the diagnosis of Heidenhain Variant of CJD. Full article

(This article belongs to the Special Issue Advances in the Diagnosis of Nervous System Diseases)

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