Neuroimaging Features Of Patients Research Articles

Serum lipidome associates with neuroimaging features in patients with traumatic brain injury

Serum lipidome associates with neuroimaging features in patients with traumatic brain injury

Neuroimaging Abnormalities in Patients with Subacute Sclerosing Panencephalitis : Prospective Follow-up Study.

This study aimed to assess the neuroimaging abnormalities and their progression in patients with Subacute sclerosing panencephalitis (SSPE) and identify clinical predictors of these imaging findings. This prospective observational study evaluated clinical and neuroimaging features in patients with SSPE. Patients were categorized using Dyken's criteria, Jabbour's staging system, and the definition of fulminant SSPE. They underwent comprehensive clinical assessments, cerebrospinal fluid examination, Electroencephalogram (EEG), and Magnetic Resonance Imaging (MRI) scans. Treatment involved intrathecal interferon‑α and antiepileptic medications. Functional disability was assessed using the modified Barthel index. Follow-ups were performed at 6 months, including reassessment of Modified Barthel Index (MBI) and Jabbour's staging and EEG and MRI scans. The mean age was 13.9 ± 6.7years, with males comprising 81.5% (44/54) of the cohort. Fulminant SSPE was noted in 33% (18/54) of cases. Disease duration before presentation varied significantly between fulminant and non-fulminant forms (p = 0.001). Neuroimaging abnormalities were more prevalent in JSIII stage patients, with diffuse cerebral atrophy being asignificant finding (p = 0.011). Basal ganglia involvement correlated with movement disorders. The 6‑month follow-up showed increased cerebral atrophy (p = 0.004). Increasing disease duration was an independent predictor of cerebral atrophy. An Intercomplex interval (ICI) of more than 10minutes correlated with normal neuroimaging, 10 patients died within the study period, 8 of whom had fulminant SSPE. Parieto-occipital White matter hyperintensity (WMH) is the most prevalent and sensitive neuroimaging finding for the diagnosis of SSPE. Despite interferon treatment, cerebral atrophy progressed in both aggressive and fulminant SSPE. Increasing disease duration is an independent predictor of cerebral atrophy.

Increased plasma lipocalin‐2 levels are associated with nonmotor symptoms and neuroimaging features in patients with Parkinson's disease

AbstractLipocalin‐2 (LCN2) is essential for the regulation of neuroinflammation and cellular uptake of iron. This study aimed to evaluate plasma LCN2 levels and explore their correlation with clinical and neuroimaging features in Parkinson's disease (PD) patients. Enzyme‐linked immunosorbent assay (ELISA) was used to measure plasma LCN2 levels in 120 subjects. Evaluation of motor symptoms and nonmotor symptoms in PD patients was assessed by the associated scales. Voxel‐based morphometry (VBM) was used to evaluate brain volume alterations, and quantitative susceptibility mapping (QSM) was used to quantitatively analyze brain iron deposition in 46 PD patients. Plasma LCN2 levels were significantly higher in PD patients than those in healthy controls. LCN2 levels were negatively correlated with Montreal Cognitive Assessment (MoCA) scores, total brain gray matter volume (GMV), and GMV/total intracranial volume (TIV) ratio, but positively correlated with Hamilton Anxiety Rating Scale (HAMD) scores and mean QSM values of the bilateral substantial nigra (SN). Receiver operating characteristic (ROC) curves confirmed that plasma LCN2 levels had good predictive accuracy for PD. The results suggest that plasma LCN2 levels have potential as a biomarker for the diagnosis of PD. LCN2 may be a therapeutic target for neuroinflammation and brain iron deposition.

Ophthalmic and Neuroimaging Associations In Optic Nerve Hypoplasia/Septo-Optic-Pituitary Dysplasia.

Optic nerve hypoplasia (ONH) and septo-optic-pituitary dysplasia (SOD) are neurodevelopmental disorders associated with congenital visual impairment. Our aim was to investigate associations between several ophthalmic and neuroimaging features in patients with ONH/SOD. A retrospective chart and neuroimaging review was performed in patients with ONH/SOD. Ophthalmic signs (e.g., monocular best-corrected visual acuity [BCVA], nystagmus, and strabismus) and neuroimaging data were extracted and their associations were investigated. There were 128 patients (70 males) with ONH/SOD who had neuroimaging. Their mean age at the end of the study was 13.2 (SD: 7.5) years. Ophthalmic data were available on 102 patients (58 males). BCVA varied from normal to no light perception. There were statistically significant associations between: (A) Reduced optic nerve or chiasm size on neuroimaging and more severely impaired BCVA and (B) laterality of the reduced optic nerve or chiasm size on neuroimaging and laterality of: (1) The eye with reduced BCVA, (2) small optic disc size, and (3) RAPD, if present (p ≤ 0.0002 each). The presence of symmetrically small optic nerves on MRI was significantly more common in patients with nystagmus than when nystagmus was absent (N = 96, 75% vs. 38.6%, p < 0.0001). The presence of neuronal migration disorders, their type and laterality were not associated with BCVA and laterality of the reduced BCVA. The functional and structural associations in ONH are consistent with the impaired visual function that results from the hypoplastic anterior visual pathways. However, these associations were not perfectly concordant making prediction of adult BCVA challenging in these patients.

Neuroimaging Features in Children with Optic Nerve Hypoplasia and Septo-Optic-Pituitary Dysplasia.

Optic nerve hypoplasia (ONH) and septo-optic-pituitary dysplasia (SOD) are common causes of congenital visual impairment. Our primary aim was to investigate the prevalence of abnormal neuroimaging features in patients with these disorders in Manitoba, Canada, and compare them with published reports. A retrospective neuroimaging review was performed in patients resident in Manitoba with ONH/SOD. There were 128 patients (M = 70) with ONH/SOD who had neuroimaging. Their mean age (SD) at the end of the study was 13.2 (7.5) years. Males were significantly more likely to have bilateral ONH and a small optic chiasm size, while females were more likely to have a left ONH and a small left optic chiasm size on neuroimaging (p = 0.049). ONH and small optic chiasm size were seen in most patients on neuroimaging. Absent septum pellucidum was noted in 40%, small pituitary gland size in 28%, neuronal migration disorders (NMD) in 20% (>1 type and bilateral in 13 cases), corpus callosum abnormalities were present in 9%, while olfactory bulbs-tracts and olfactory sulci were absent in 8.6% of cases. Unilateral ONH was not significantly associated with other structural brain abnormalities, while NMD were significantly associated with other midline brain abnormalities including a symmetrically small optic chiasm size. The prevalence of structural neuroimaging abnormalities in our cohort with ONH/SOD was generally in the same range reported in other studies with corpus callosum abnormalities being relatively less common in our study. Bilateral NMD were relatively common among patients with NMD. The association between sex and ONH laterality requires further study.

Identification of m.3243A>G mitochondrial DNA mutation in patients with cerebellar ataxia

The mitochondrial DNA m.3243A>G mutation can affect mitochondrial function and lead to a wide phenotypic spectrum, including mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome, diabetes mellitus, hearing impairment, cardiac involvement, epilepsy, migraine, myopathy, and cerebellar ataxia. However, m.3243A>G has been rarely reported in patients with cerebellar ataxia as their predominant manifestation. The aim of this study is to investigate the prevalence and clinical features of m.3243A>G in a Taiwanese cohort of cerebellar ataxia with unknown genetic diagnosis. This retrospective cohort study conducted the mutation analysis of m.3243A>G by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) in 232 unrelated Han Chinese patients with genetically-undetermined cerebellar ataxia. The clinical presentation and neuroimaging features of patients with m.3243A>G mutation-related cerebellar ataxia were characterized. We identified two patients harboring m.3243A>G mutation. These patients have suffered from apparently sporadic and slowly progressive cerebellar ataxia since age 52 and 35 years, respectively. Both patients had diabetes mellitus and/or hearing impairment. The neuroimaging studies revealed generalized brain atrophy with predominantly cerebellar involvement in both individuals and bilateral basal ganglia calcifications in one of the patients. Mitochondrial m.3243A>G mutation accounted for 0.9% (2/232) of genetically-undetermined cerebellar ataxia in the Han Chinese cohort in Taiwan. These findings highlight the importance of investigating m.3243A>G in patients with genetically-undetermined cerebellar ataxia.

DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum

DYNC1H1 variants are associated with peripheral neuronal dysfunction and brain morphology abnormalities resulting in neurodevelopmental delay. However, few studies have focused on the association between DYNC1H1 variants and epilepsy. Herein, we report a case of drug-resistant focal epilepsy associated with a pathogenic variant of DYNC1H1. We further summarized the clinical, genetic, and neuroimaging characteristics of patients with DYNC1H1 variant-associated epilepsy from the relevant literature. This report expands the phenotypic spectrum of DYNC1H1-related disorder to include early-onset epilepsy, which is frequently associated with neurodevelopmental delay and intellectual disability, malformations of cortical development, and neuromuscular, ophthalmic, and orthopedic involvement.

Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis.

Hereditary cranial hyperostosis is a rare disease never described in Italy, so the neurological manifestations in patients and carriers of the disease have been little studied. We describe the neurological and neuroimaging features of patients and carriers of the gene from a large Italian family with sclerosteosis. In this family, genetic testing detected the homozygous p.Gln24X (c.70C > T) mutation of the SOST gene in the proband and a heterozygous mutation in 9 siblings. In homozygous adults, severe craniofacial hyperostosis was manifested by cranial neuropathy in childhood, chronic headache secondary to intracranial hypertension, and an obstructive sleep apnea syndrome in adults. In one of the adult patients, there was a compressible subcutaneous swelling in the occipital region caused by transosseous intracranial-extracranial occipital venous drainage, a compensation mechanism of obstructed venous drainage secondary to cranial hyperostosis. Mild cranial hyperostosis causing frequent headache and snoring was evident in the nine heterozygous subjects. Multiple cranial neuropathies and headache in children, while severe chronic headache and sleep disturbances in adults, are the neurological manifestations of the first Italian family with osteosclerosis. It is reasonable to extend neurological and neuroimaging evaluation to gene carriers as well.

Clinical characteristics and outcome of primary brain abscess: a retrospective analysis

BackgroundPatients with primary brain abscess often present with atypical symptoms, and the outcome varies. We investigated the demographic, laboratory, and neuroimaging features of patients with brain abscess at our hospital and identified factors associated with their outcomes.MethodsWe retrospectively collected the data of patients diagnosed with primary brain abscess at our hospital between January 2011 and December 2020. Their clinical characteristics, predisposing factors, laboratory and neuroimaging findings, treatment, and outcome were analyzed.ResultsOf the 57 patients diagnosed with primary abscess, 51 (89.47%) were older than 40 years, and 42 (73.68%) were male. Only eight patients (14.04%) showed the classical triad of headache, fever, and focal neurological deficit. Fifteen patients (26.31%) had comorbidities, of which diabetes mellitus was the most common. Positive intracranial purulent material cultures were obtained in 46.15% of the patients, and gram-negative enteric bacteria were found in 33.33% of them, with Klebsiella pneumoniae being the most frequently observed. Surgical treatment, most commonly in the form of stereotactic drainage, was received by 54.39% of the patients. Good outcomes were achieved in 75.44% of the patients. Multivariate logistic regression analysis showed that patients with headaches were more likely to have a poor outcome (odds ratio 6.010, 95% confidence interval 1.114–32.407, p = 0.037).ConclusionsMale patients and those older than 40 years were more susceptible to brain abscess than female patients and those younger than 40 years, respectively. Only a few patients showed the classical triad of clinical symptoms. Diabetes mellitus was the most common comorbidity. Positive intracranial specimens’ culture results were uncommon, with gram-negative enteric bacteria, especially Klebsiella pneumoniae, being the main organisms found. Most patients had a good outcome, and the presence of headache may influence the outcome.

Neuroimaging predictors of structural epilepsy in the COVID-19 catamnesis

Respiratory system pathology is the most common clinical disorder associated with COVID-19. However, there are also lesions of the immune, cardiovascular, genitourinary, endocrine systems, and digestive tract. In addition, there are numerous reports on infection-related neurological manifestations, which can be divided into 3 groups: central nervous system manifestations (headache and dizziness, stroke, encephalopathy, encephalitis, acute myelitis), lesions of the peripheral nervous system (anosmia, Guillain–Barre syndrome), secondary lesions in the skeletal muscles. Brain damage that occurs during novel coronavirus infection and determines some of the above-mentioned manifestations often account for the development of structural epilepsies. Only a few scarce review articles on neuroimaging features in patients with COVID-19 have been found in Russian research publications.The objective of the review was to collect, analyze and summarize the results of brain magnetic resonance imaging (MRI), currently accumulated worldwide in patients with COVID-19. We present the most common diagnoses based on brain MRI in patients with COVID-19 established by foreign researchers from March 2020 to March 2021, as well as initial attempts to interpret the pathophysiological mechanisms of the changes observed in the brain substance.

Neuroimaging Characteristics of Patients with Chronic Schizophrenia and Predictive Diagnosis of Melatonin Therapy

Objective: To investigate the improvement of melatonin in cognitive function and safety of schizophrenia patients with tardive dyskinesia (TD). At the same time, the neuroimaging characteristics of patients with chronic schizophrenia were analyzed. Methods: 76 patients with chronic schizophrenia accompanied by TD were randomly divided into treatment group 39 cases and control group 37 cases. The treatment group was given melatonin 9 mg/d, while the control group was only treated with the original drug. The course of treatment is 12 weeks. Wechsler Adult Intelligence Scale (WAIS), Wechsler Memory Scale (WMS), Repeated Neuropsychological State Test (RBANS), Vocabulary Fluency Scale (VFT), and Symptom Scale (TESS) The curative effect and adverse reactions were evaluated before treatment and 12 weeks. Results: In the treatment group, WAIS was significantly higher than the control group in terms of semantic fluency and VFT in all indicators of operation, speech and total scale (P &lt; 0.05 or P &lt; 0.01); the differences in WMS indicators between the two groups were all different. No statistical significance (P &gt; 0.05). The TESS score in the treatment group was significantly lower than before treatment (P &lt; 0.05), and there was no significant difference between the two groups. Conclusion: Melatonin can improve the cognitive function of patients with chronic schizophrenia with TD, and it is safer.

Electrophysiological and neuroimaging characteristics of patients with epilepsy

Electrophysiological and neuroimaging characteristics of patients with epilepsy

Role of the RNF213 Variant in Vascular Outcomes in Patients With Intracranial Atherosclerosis.

BackgroundThe RNF213 (ring finger protein 213 gene) variant R4810K is a susceptibility allele not only for Moyamoya disease (MMD) but also for intracranial atherosclerosis (ICAS) in East Asian populations. We hypothesized that this variant would affect the distribution of ICAS and recurrence of cerebrovascular events.Methods and ResultsWe conducted a prospective study of patients with ICAS and MMD using high‐resolution magnetic resonance imaging and RNF213 R4810K genotyping. Patients were included in the ICAS group when relevant plaques existed on high‐resolution magnetic resonance imagingand in the MMD group when they carried the variant and high‐resolution magnetic resonance imaging showed no plaques but characteristic features of MMD. We compared clinical and neuroimaging features of patients with ICAS‐RNF213+ with patients with ICAS‐RNF213− and of patients with MMD. Of 477 patients, 238 patients were in the ICAS group and 239 were in the MMD group. Among patients with ICAS, 79 patients (33.2%) were in the ICAS‐RNF213+ group and 159 (66.8%) in the ICAS‐RNF213− group. Tandem lesions were significantly more common in the ICAS‐RNF213+ group than in the ICAS‐RNF213− group (40.3% versus 72.2%, P<0.001), and their distributions were similar between the ICAS‐RNF213+ and MMD groups. The presence of the R4810K variant (hazard ratio [HR], 3.203; 95% CI, 1.149–9.459; P=0.026) and tandem lesions (≥3) (HR, 8.315; 95% CI, 1.930–39.607; P=0.005) were independently associated with recurrent cerebrovascular events.ConclusionsPatients with ICAS carrying the RNF213 R4810K variant showed clinical and imaging features distinct from patients with ICAS without the variant, suggesting that the R4810K variant plays a role in intracranial atherosclerosis in East Asian patients.

COVID-19 and Ischemic Stroke: Clinical and Neuroimaging Findings.

SARS-CoV-2 causes multiorgan disease due to altered coagulability and microangiopathy. Patients may have an increased risk of cerebrovascular accidents (CVA). Our objective was to analyze clinical and neuroimaging characteristics of patients with ischemic CVA during the pandemic peak in our region, in order to identify atypical presentations. We performed a cross-sectional analysis of patients admitted under code-stroke protocol to our center with a final diagnosis of ischemic brain infarction. We analyzed the main imaging and demographic characteristics and reviewed neuroimaging for atypical presentations. One-hundred patients with confirmed ischemic CVA were included. Nineteen had positive polymerase chain reaction testing for SARS-CoV-2 on admission. These patients had a lower prevalence of proximal arterial occlusion on imaging, higher in-hospital mortality, and worse baseline disability. No differences were identified in affected vascular territory, volume of infarction, initial CT stroke score, prevalence of hemorrhagic transformation, gender, age, cardiovascular risk factors, time to admission, symptom severity on entry, or decision to treat with thrombolysis or mechanical thrombectomy. Prevalence of COVID-19 in our code-stroke sample was higher than that for our province during this time period. The COVID-19 group had more in-hospital mortality, less proximal arterial occlusion on CT or MR angiography, and lower baseline modified Rankin Scale score. We suggest a possibly higher proportion of microangiopathic involvement or undetected distal large-vessel occlusion in the COVID-19 stroke group. Excess mortality was explained by severe respiratory failure. Otherwise, stroke patients with COVID-19 did not differ demographically or clinically from those without the illness.

The neurophysiology and seizure outcomes of late onset unexplained epilepsy

ObjectiveTo investigate neurophysiologic and neuroimaging characteristics of patients with late onset unexplained epilepsy (LOUE). MethodsWe performed a retrospective chart review of elderly patients with ICD9 diagnosis codes consistent with epilepsy/seizures. Inclusion criteria included unprovoked seizures, and absence of cortical lesions on magnetic resonance imaging (MRI). Electroencephalograms (EEGs) findings were also analyzed. MRI images were scored for degree of white matter hyperintensities (Fazekas Scale) and mesial temporal atrophy (MTA). Vascular risk factors, and Framingham Heart Study general cardiovascular disease (FHS-CVD) risk scores were compared to controls from the Harvard Aging Brain study (HABS). ResultsWe identified 224 LOUE patients and 8% were drug resistant. Epileptiform abnormalities were captured on EEG in 35%. The location was temporal with left sided predominance in 49%. Fazekas scale consisted of 25% beginning of confluent lesions, and 10% large confluent lesions. MTA scores consisted of 21% moderate-severe hippocampal atrophy. LOUE patients had on average a 2.3% (adjusted), 7.4% (unadjusted) increased FHS-CVD score. ConclusionsOur findings highlight LOUE as pharmacosensitive and left temporal predominant. Given the higher prevalence of vascular risk factors, investigations are needed to study their role in pathophysiology. SignificancePhysicians caring for patients with LOUE should evaluate for vascular risk factors and investigate the presence of hippocampal atrophy.

Pediatric cerebellar malformations: magnetic resonance diagnostic merits and correlation with neurodevelopmental outcome

BackgroundIn spite of having many classifications for pediatric cerebellar malformations (PCMs), no broadly accepted classification is recommended. Associated neurodevelopmental outcomes in children with PCMs remain poorly defined. Neuroimaging is compulsory for the diagnosis of cerebellar malformation and their associated abnormalities. This article emphasizes on the clinical and radiological traits of PCMs. It proposes a radiological classification and a diagnostic approach and assesses whether specific neuroimaging features in patients with PCM correlate with their neurodevelopmental outcomes.ResultsFifty-eight pediatric patients were classified as follows: The majority of about 51 cases (88%) showed cerebellar hypoplasia and the remaining 7 cases (12%) showed cerebellar dysplasia. Twenty-six patients (45%) remained undiagnosed, while 32 patients (55%) were having a final diagnosis (24% Dandy-Walker malformation (DWM) (n = 14), 7% isolated vermian hypoplasia (n = 4), 7% congenital disorder of glycosylation (CDG) (n = 4), 5% congenital muscular dystrophy (n = 3), 5% congenital cytomegalovirus (CMV) infection (n = 30), 3% rhombencephalosynapsis (n = 2), 2% Lhermitte-Duclos syndrome (n = 1), and 2% DWM with Joubert syndrome (n = 1)). Overall, for the neurodevelopmental outcome, the majority of patients 90% (52/58) had a global developmental delay (GDD) which is a delay in two or more developmental domains. Both motor and language delay represented about 72% (37/58), intellectual disability was present in 59% (34/58), epilepsy in 53% (31/58), ataxic gait in 57% (33/58), attention deficit hyperactivity disorder (ADHD) in 19% (11/58), autism spectrum disorder (ASD) in 17% (10/58), nystagmus and tremors in 15% (9/58), and behavioral changes in 7% (6/58). Most of the children with cerebellar hypoplasia, about 93%, had GDD. Also, patients with PCH associated with a severe GDD, 75% had a language delay, 50% had intellectual and motor delay, and about 25% had epilepsy. However, we observed mild GDD in half of the vermian hypoplasia cases and half of them had a mild fine motor delay.ConclusionsMagnetic resonance imaging (MRI) of the pediatric brain provides key information to categorize and classify cerebellar malformations. A neurodevelopmental deficit is highly associated with different types of PCMs. Severe GDD was associated with cerebellar and brain stem involvement. However, children with vermis mal-development were likely to have mild GDD. Familiarity with their diagnostic criteria is mandatory for correct diagnosis and prognosis for patients.

The effect of cardiovascular diseases on the course of multiple sclerosis (review of literature)

Comorbidity is one of the factors determining the course of multiple sclerosis. Cardiovascular pathology is one of the most common in the population as a whole, especially in age groups over 50. Several studies showed that arterial hypotension and dyslipidemia affected the course, progression rate, and neuroimaging characteristics of patients with multiple sclerosis. An important issue is the effect of disease modifying therapy on the course of concomitant diseases in patients with multiple sclerosis and the effect of concomitant diseases on the effectiveness and safety of disease modifying therapy. The question of the use of statins in multiple sclerosis remains controversial. This review presents data on vascular comorbidity in multiple sclerosis, including the prevalence of risk factors for cardiovascular pathology and concomitant vascular diseases in the population of patients with multiple sclerosis. Data on the effect of cardiovascular pathology on the course and treatment of multiple sclerosis were also analyzed.

Intra-family phenotype variations in familial neuromyelitis optica spectrum disorders

BackgroundThe aim of the current study was to examine intra-family phenotype variations in familial neuromyelitis optica (NMO) spectrum disorder. MethodsThe clinical presentation and neuroimaging features of two family members (mother and daughter) from a NMO spectrum disorder family (index family) were analyzed. Multiplex polymerase chain reaction was performed based on targeted re-sequencing on the AQP4 gene and the human leukocyte antigen (HLA) loci. The clinical and neuroimaging features of the members of six other previously reported NMO spectrum disorder families were also included for analysis. ResultsIn the core family, the mother was aged 39 at disease onset and the initial presentation was spinal cord involvement, whereas the daughter was 22 years old at disease onset and the initial presentation was brainstem involvement. No coding pathogenic variants or single nucleotide polymorphisms of the AQP4 gene were identified in the mother, daughter or father. As for HLA genotyping, the HLA-DRB1*03 and HLA-DPB1*04 alleles were shared by the mother and daughter. The HLA-DPB1*05 was present in the affected daughter and was inherited from the unaffected father. As for the other six reported families with familial NMO spectrum disorder, four mother-daughter pairs had a different age at disease onset and/or a different initial presentation. The other two affected family groups were sister-sister pairs; they had a similar age of onset and similar initial presentations. ConclusionThe present study offers a preliminary view of the clinical and neuroimaging features of patients with familial NMO spectrum disorder. Clinical heterogeneities were found among the family members, especially the mother and daughter pairs. The presence of risk allele HLA-DR*03:01 may be an important genetic finding for familial NMO spectrum disorder patients. To the best of our knowledge, this clinical heterogeneity has not been previously examined or reported in the literature. For better delineation of the intra-familial phenotype variations in familial NMO spectrum disorder, further large-scale studies are needed.

Prevalence of Mathematical and Visuospatial Learning Disabilities in Patients With Posterior Cortical Atrophy

Increased prevalence of language-based learning disabilities (LDs) has been previously reported in patients with primary progressive aphasia (PPA). This study hypothesized that patients with focal neurodegenerative syndromes outside the language network, such as posterior cortical atrophy (PCA), would have a higher rate of nonlanguage LDs, congruent with their mainly visuospatial presentation. To investigate the prevalence and type of LD (language and/or mathematical and visuospatial) in a large cohort of patients with PCA compared with patients with logopenic variant PPA (lvPPA) and amnestic Alzheimer disease (AD). This case-control study reviewed 279 medical records from a university-based clinic and research center for patients with neurodegenerative diseases for LD history, including patients with PCA (n = 95), patients with lvPPA (n = 84), and a matched cohort with amnestic AD (n = 100). No records were excluded. The study compared cognitive and neuroimaging features of patients with PCA with and without LDs. A review of the records of patients presenting from March 1, 1999, to August 31, 2014, revealed 95 PCA cases and 84 lvPPA cases. Then 100 patients with amnestic AD from this same period were chosen for comparison, matching against the groups for age, sex, and disease severity. Data analysis was performed from September 8, 2013, to November 6, 2017. Prevalence of total LD history and prevalence of language and mathematical or visuospatial LD history across all cohorts. A total of 179 atypical AD cases (95 with PCA and 84 with lvPPA) and 100 disease control cases (amnestic AD) were included in the study. The groups were not statistically different for mean (SD) age at first visit (PCA, 61.9 [7.0] years; lvPPA, 65.1 [8.7] years; amnestic AD, 64.0 [12.6] years; P = .08), mean (SD) age at first symptom (PCA, 57.5 [7.0] years; lvPPA, 61.1 [9.0] years; amnestic AD, 59.6 [13.7] years; P = .06), or sex (PCA, 66.3% female; lvPPA, 56.0% female; amnestic AD, 57.0% female; P = .30) but differed on non-right-hand preference (PCA, 18.3%; lvPPA, 20.2%; amnestic AD, 7.7%; P = .04), race/ethnicity (PCA, 88.3% white; lvPPA, 99.0% white; amnestic AD, 80.0% white; P < .001), and mean (SD) educational level (PCA, 15.7 [3.2] years; lvPPA, 16.2 [3.3] years; amnestic AD, 14.8 [3.5] years; P = .02). A total of 18 of the 95 patients with PCA (18.9%) reported a history of LD, which is greater than the 3 of 100 patients (3.0%) in the amnestic AD cohort (P < .001) and the 10.0% expected rate in the general population (P = .007). In the PCA cohort, 13 of 95 patients (13.7%) had a nonlanguage mathematical and/or visuospatial LD; this rate was greater than that in the amnestic AD (1 of 100 [1.0%]; P < .001) and lvPPA (2 of 84 [2.4%]; P = .006) cohorts and greater than the 6.0% expected general population rate of mathematical LD (P = .003). Compared with the patients with PCA without LDs, the group with LDs had greater preservation of global cognition and a more right-lateralized pattern of atrophy. Nonlanguage mathematical and visuospatial LDs were associated with focal, visuospatial predominant neurodegenerative clinical syndromes. This finding supports the hypothesis that neurodevelopmental differences in specific brain networks are associated with phenotypic manifestation of later-life neurodegenerative disease.

Clinical Presentation, Neuroimaging Findings, and Predictors of Brain Parenchymal Lesions in Cerebral Vein and Dural Sinus Thrombosis: A Retrospective Study.

Introduction:Cerebral venous sinus thrombosis (CVST) is an unusual cause of stroke with potentially serious consequences. This study was designed to investigate the clinical and neuroimaging features in patients with CVST and to analyze the predictors of brain parenchymal lesions.Materials and Methods:A retrospective study of 181 patients with CVST was conducted in a tertiary care hospital.Results:Of 181 patients (age range 14–96 years, mean age: 34.64 ± 14.66 years), 121 were female (66.9%). Most of the patients were in their third decade of life. Headache (47.51%) was the most common clinical presentation followed by seizures (24.31%). Transverse sinus (TS) (77.9%) was the most common site of venous sinus thrombosis. Brain parenchymal lesions were present in 63%, and each patient had subarachnoid and intraventricular hemorrhage. Hemorrhagic venous infarct was the most common brain parenchymal lesion (37.57%). Frontal region (25.4%) was the most common site of brain parenchymal lesions followed by frontoparietal region (21.9%). Women were more likely to have brain parenchymal lesions (72.4%, P = 0.034). Headache was the most common clinical presentation in patients without brain parenchymal lesions while seizures with brain parenchymal lesions. Straight sinus thrombosis was more likely to be associated with brain parenchymal lesions (P = 0.009).Conclusion:CVST presents in young and more commonly in females. TS was the most common site of venous sinus thrombosis. Female gender, seizures, altered sensorium and focal neurological deficit at presentation, and straight sinus thrombosis were more likely associated with the presence of brain parenchymal lesions.