Imaging characteristics of early-onset Alzheimer's disease / 中风与神经疾病杂志

@#Alzheimer's disease (AD) is a progressive irreversible neurodegenerative disease,and its prevalence rate is increasing rapidly as the population ages. Most patients with AD are diagnosed after the age of 65 years,and compared with late-onset Alzheimer's disease (LOAD),approximately 5%~10% of patients with AD develop cognitive impairment before the age of 65 years and are defined as early-onset Alzheimer's disease (EOAD). Although LOAD,typical amnestic EOAD,and atypical EOAD share the same molecular pathology of the accumulation of β-amyloid and tau,they tend to have heterogeneous clinical manifestations. EOAD is frequently misdiagnosed or delayed due to atypical clinical manifestations,and it often has rapid progression and a short survival time;therefore,it is crucial to understand the characteristics of EOAD for early diagnosis and treatment. Different clinical phenotypes of AD appear to have selective vulnerability in certain brain regions,which may help to explain such heterogeneity. This review analyzes the recent research advances in the structural,functional,and molecular imaging of typical amnestic EOAD and atypical EOAD and investigates the feasibility and effectiveness of imaging indicators as a noninvasive marker,so as to provide new ideas for the diagnosis of EOAD.

Correlation between cognitive impairment and cortical atrophy in elderly patients with asymptomatic carotid artery stenosis / 中华健康管理学杂志

Objective:To analyze the correlation between cognitive impairment and cortical atrophy in elderly patients with asymptomatic carotid artery stenosis (ACAS).Methods:In this cross-sectional study, 40 consecutive elderly patients with ACAS treated in the Department of Neurology, Northern Jiangsu People′s Hospital from July 1, 2020 to June 30, 2021 (ACAS group), and 40 elderly healthy controls who accepted physical examination during the same period (control group) were included. Cognitive assessment was performed using the Mental State Examination Scale (MMSE) and the Montreal Cognitive Assessment Scale (MoCA), and brain magnetic resonance imaging scanning was performed in the ACAS group. The artificial intelligence technique was applied for brain lobe segmentation and cortical volume calculation. The χ2-test, independent sample t-test and Wilcoxon non-parametric test were used to analyze the difference of clinical data and cognitive scores between the two groups. In the ACAS group, the cortical volumes of the side with carotid stenosis was compared with that of the normal side, and Spearman′s correlation analysis was used to assess the correlation between cognitive scores and cortical atrophy. Results:Compared with the control group, the ACAS group got significantly lower scores of MMSE and MoCA, as well as lower scores of visuospatial executive function, attention and calculation, language function, abstraction ability and delayed recall [(25.60±2.49) vs (27.18±1.01), (22.05±3.59) vs (25.60±1.43), (2.73±1.04) vs (4.08±0.62), (4.53±0.93) vs (5.03±0.66), 2.00 (0.00) vs 3.00 (0.00), 1.00 (1.00) vs 2.00 (0.00), and (2.95±0.96) vs (3.35±0.62)] (all P<0.05). There was not significant differences in naming and orientation ability between the two groups (both P>0.05). The volume of cortical, temporal lobe, frontal lobe, parietal lobe and insular lobe on the side with carotid stenosis in the ACAS group were significantly smaller than those on the normal side [186.23 (177.97, 202.53) vs 194.67 (185.65, 204.82) cm 3, 54.74 (50.66, 56.95) vs 55.61 (51.24, 58.49) cm 3, 72.98 (70.76, 78.34) vs 75.27 (72.34, 80.66) cm 3, 53.66 (51.11, 57.86) vs 56.59 (52.80, 60.09) cm 3, 6.57 (6.35, 7.07) vs 6.72 (6.46, 7.34) cm 3] (all P<0.05). The MoCA score in the ACAS group was positively related to the cortical volume ratio of the two sides ( r=0.427, P<0.01). The attention ( r=0.353) and abstraction ( r=0.226) ability scores were positively correlated with the temporal lobe volume ratios of the two sides (both P<0.05). The visuospatial executive ( r=0.187) and language ( r=0.373) ability scores were positively correlated with frontal lobe volume ratios of the two sides (both P<0.05), and visuospatial executive ( r=0.386), naming ( r=0.344), language ( r=0.517), abstraction ( r=0.335) and delayed recall ( r=0.333) ability scores were positively correlated with parietal lobe volume ratios of the two sides (all P<0.05). Conclusion:In elderly patients with ACAS, the cognitive impairment and cortical atrophy on the sides with carotid stenosis are significant and a positive correlation is detected between them.

Clinical and imaging features of posterior cortical atrophy / 中风与神经疾病杂志

@#Objective Posterior cortical atrophy (PCA) is a progressive dementia characterized by visual impairment and progressive cognitive impairment. The clinical manifestations of PCA are characterized by progressive decline in visual processing,reading and writing ability,computational ability and related functions of parietal,occipital and temporal lobes. Visual cognitive impairment is prominent,while situational memory,language fluency and insight are relatively preserved. The clinical and imaging features of posterior cortical atrophy in this article were discussed in order to provide reference for early diagnosis and treatment. Methods Eight patients with posterior cortical atrophy diagnosed in Department of Neurology of Xuanwu Hospital from 2013 to 2018 were retrospectively analyzed in terms of clinical manifestations,neuropsychological examinations and neuroimaging data. Results All the 8 patients with PCA had occult onset and progressed slowly. Five of them accorded with the characteristics of dorsal posterior cortical atrophy. The clinical manifestations were Balint’s syndrome,visual-spatial dysfunction and Gertzmann’s syndrome and the atrophy of parietal-occipital cortex was the main manifestation on head MRI. The other three patients accorded with the characteristics of ventral posterior cortical atrophy. The main clinical manifestations were facial agnosia,visual neglect and head MRI showed that bilateral temporal and occipital cortex atrophy was predominant,while medial temporal lobe and hippocampus atrophy was relatively mild. SPECT was performed in all 8 patients,showing hypoperfusion of blood flow in the posterior cerebral cortex including parietal lobe and temporal occipital lobe. Three patients underwent 18F FDG PET examination,which showed that the glucose metabolism in the posterior occipital lobe,parietal lobe and temporal lobe cortex was decreased. Conclusion For patients with visual impairment and posterior cognitive impairment,PCA diagnosis should be taken into account,comprehensive neuropsychological assessment and PET examination should be carried out to diagnose the etiology and classification of PCA.

The Cortical Neuroanatomy Related to Specific Neuropsychological Deficits in Alzheimer's Continuum

BACKGROUND AND PURPOSE: In Alzheimer's continuum (a comprehensive of preclinical Alzheimer's disease [AD], mild cognitive impairment [MCI] due to AD, and AD dementia), cognitive dysfunctions are often related to cortical atrophy in specific brain regions. The purpose of this study was to investigate the association between anatomical pattern of cortical atrophy and specific neuropsychological deficits. METHODS: A total of 249 participants with Alzheimer's continuum (125 AD dementia, 103 MCI due to AD, and 21 preclinical AD) who were confirmed to be positive for amyloid deposits were collected from the memory disorder clinic in the department of neurology at Samsung Medical Center in Korea between September 2013 and March 2018. To analyze neuropsychological test-specific neural correlates representing the relationship between cortical atrophy measured by cortical thickness and performance in specific neuropsychological tests, a linear regression analysis was performed. Two neural correlates acquired by 2 different standardized scores in neuropsychological tests were also compared. RESULTS: Cortical atrophy in several specific brain regions was associated with most neuropsychological deficits, including digit span backward, naming, drawing-copying, verbal and visual recall, semantic fluency, phonemic fluency, and response inhibition. There were a few differences between 2 neural correlates obtained by different z-scores. CONCLUSIONS: The poor performance of most neuropsychological tests is closely related to cortical thinning in specific brain areas in Alzheimer's continuum. Therefore, the brain atrophy pattern in patients with Alzheimer's continuum can be predict by an accurate analysis of neuropsychological tests in clinical practice.

Clinico-radiologic profile of a dorsal variant of posterior cortical atrophy in a 55- year old female

@#Posterior Cortical Atrophy is a group of neurodegenerative disorders characterized by early, prominent and progressive impairment of visuospatial and visuoperceptual functions in the context of relatively preserved memory and insight in the early phases. Initial visual symptoms are vague, compelling patients to seek ophthalmologic consult. They present with simultagnosia and spatial disorientation, which are often missed by routine ophthalmologic and neurologic exams, causing delay in diagnosis. As the disease progresses, Posterior Cortical Atrophy ultimately leads to a more diffuse pattern of cognitive dysfunction. The underlying pathology is believed to be Alzheimer’s Disease and a greater level of amyloid plaques is correlated with earlier clinical symptoms of Posterior Cortical Atrophy. The clinical features of reported cases are heterogenous, leading to a classification of different variants and underlying pathologies. We report the serial clinical, cognitive and imaging data of a variant of Posterior Cortical Atrophy primarily affecting the dorsal stream.

A patient with posterior cortical atrophy due to Alzheimer's disease / Paciente com atrofia cortical posterior devida à doença de Alzheimer

We describe a 68-year-old right-handed male with 16 years of education. He worked as a bank manager until his retirement in 1999. Ha had a past history of alcohol abuse for 19 years with no other comorbidities or family history of dementia. Four years before the diagnosis, the patient had consulted with some ophthalmologists for visual difficulties such as reading and driving at night. He had been involved in two car accidents - neither was related to drink driving. He also presented several other minor problems driving, which might have been the first true symptoms of his illness.

Descrevemos um homem destro de 68 anos com 16 anos de escolaridade. Ele trabalhou como gerente de banco até sua aposentadoria em 1999. Ha um histórico de abuso de álcool há 19 anos, sem outras comorbidades ou histórico familiar de demência. Quatro anos antes do diagnóstico, o paciente consultou alguns oftalmologistas em virtude de dificuldades visuais, como ler e dirigir à noite. Ele esteve envolvido em dois acidentes de carro - nenhum deles estava relacionado a dirigir alcoolizado. Ele também apresentou vários outros pequenos problemas de condução, que poderiam ter sido os primeiros sintomas verdadeiros de sua doença.

Morphometric Study Of Posterior Horn Of Lateral Ventricle And Its Correlation With Age And Side: A Ct Study

Enlargement of lateral ventricle is most striking feature after sixth decade of life. Regression of brain is normalageing process. But there are marked individual variations in this process. Lateral ventricular contours arerelatively constant, except for the occipital horns. Two major changes that may occur in elderly individualwithout neurologic deficits is enlargement of ventricles and cortical atrophy. This study is focusing on thechanges in posterior horn of lateral ventricle in different age groups. Aim of this study is to statistically analysethe length of the posterior horn of lateral ventricle in human and to correlate the changes in relation to age andside. Method: The CT images of 150 adult individuals (age group 20-80yrs) was studied in both males andfemales. Length of posterior horn of lateral ventricle was measured using dicomworks software. Result: Meanvalue of length of the posterior horn increases on both sides as the age increases. Values are larger in 61-80years. In relation to the side, the length of posterior horn is greater on the left side as compared to the right side.

Posterior Type of Alzheimer's Dementia Presenting with Homonymous Hemianopsia

BACKGROUND: Alzheimer's disease is a chronic neurodegenerative condition, mostly affecting the medial temporal lobe and associated neocortical structures. In this report, we present a rare clinical manifestation of this disease. CASE REPORT: A 61-year-old female with word finding difficulty and memory disturbances was diagnosed with Alzheimer's disease. Two years later, she complained of right homonymous hemianopia without optic ataxia, ocular apraxia, and simultagnosia. No findings other than parenchymal disease were apparent in magnetic resonance imaging and laboratory tests. CONCLUSIONS: In this case, in a patient initially diagnosed with Alzheimer's dementia with progressive disease, we found only homonymous hemianopia, without signs of Balint's syndrome or Gerstmann's syndrome. After careful investigation showing that Alzheimer's dementia with visual symptom was not associated with parenchymal disease, we concluded a case of atypical variant of Alzheimer's disease.

Progress in posterior cortical atrophy research / 复旦学报（医学版）

Posterior cortical atrophy (PCA) is a kind of neurodegenerative dementia,which is characterized by the progressive decline of visuoperceptual,visuospatial,reading and writing ability and praxic skills.Neuroimaging usually shows atrophy or metabolic decrease in posterior brain regions.The most common neuropathologic changes of PCA are amyloid plaques deposition and neurofibrillary tangles in posterior cortex.In general,PCA is considered as a variant form of Alzheimer's disease.

Morphometric Study of Fourth Ventricle By Computerised Tomography.

Background: The two major changes that may occur in elderly individual without neurologic deficits is enlargement of ventricles and cortical atrophy. Aim of the study was to statistically analyse the dimensions of Fourth ventricle in humans and also to study the Changes that occur during ageing. Ventricular size of males and females was compared. METHOD: The CT images of 112 adult individuals (Age Group 21-60) and 88 ageing individuals (Age above 61) was studied in both males and females. Measurements like vertical length, height, anterior-posterior diameter and transverse diameter of fourth ventricle was made by using dicomworks software. RESULT: This study showed positive co-relation of age with dimensions of fourth ventricle and the dimensions of the fourth ventricle were enlarged with physiologic ageing. Also the dimensions of fourth ventricle were more in males as compared to females.

One glasses too many: A case report of Benson’s syndrome.

We report a case of Benson’s Syndrome, a form of occipital Alzheimer’s disease, with posterior cortical atrophy on magnetic resonance imaging, in a 62‑year‑old male, who presented with visual problems, ascribed to the eyes, and had even undergone cataract/intraocular lens surgery in the right eye; and change of glasses 21 times over the past 2 years, with no apparent benefit. This case is of interest both on account of its rarity, and to highlight its features since the diagnosis may be missed in an ophthalmological setting where such patient may go for first consult.

Posterior Cortical Atrophy with Acute Onset and Rapid Progressive Visual Symptoms: A Case Report

BACKGROUND: Posterior cortical atrophy (PCA) is characterized by slowly progressive early onset dementia with cortical visual dysfunction and disproportionate atrophy of the posterior cortex. CASE REPORT: A 55-year-old right-handed woman developed visuo-spatial impairments that progressed rapidly into cortical blindness over the following 3 months. Neuro-psychological evaluation revealed Gerstmann syndrome and severe constructional impairments with all components of Balint syndrome. However, her memory, insight, and judgment were preserved. Her brain MRI was normal. However, 18F fluorodeoxyglucose positron emission tomography revealed a marked hypometabolism in the bilateral parieto-occipital region. CONCLUSIONS: Although rapid progression of visuo-spatial dysfunction without memory impairment occurred, we considered PCA as well.

A Voxel Based Morphometric Analysis of Longitudinal Cortical Gray Matter Changes in Progranulin Mutation Carriers At-Risk for Frontotemporal Dementia: Preliminary Study

BACKGROUND AND PURPOSE: One of the most common genetic causes of frontotemporal dementia (FTD) is mutation in the progranulin (PGRN) gene. The aim of this study is to assess the early effects of the PGRN mutations on brain volumes by longitudinal voxel based morphometric (VBM) evaluation in asymptomatic mutation carriers. METHODS: We recruited 17 asymptomatic members of families with FTD caused by PGRN mutations; 7 mutation carriers (51.0+/-11.6 yr) and 10 non-carriers (55.2+/-6.0 yr, p=0.404). The MRI follow-up intervals of carriers and non-carriers were 788.6+/-103.8 and 922.0+/-225.1 days (p=0.124) respectively. We performed cross-sectional and longitudinal VBM analysis on both groups. RESULTS: At baseline, the carriers had lower white matter (WM) volumes in left frontal regions (p<0.001, uncorrected), but had no gray matter (GM) volume reduction. The carrier's global GM (p=0.924) and WM volume (p=0.364) reduction rate were not different from the non-carrier's. However, statistical parametric mapping T-maps showed differentially increased GM volume reductions in the bilateral parietal areas of carriers (p<0.001, uncorrected). CONCLUSIONS: The findings from this study to examine WM and GM cross-sectional and longitudinal changes in PGRN mutation carriers suggest that WM atrophic changes could precede both GM changes and symptom onset in FTD. Asymptomatic PGRN mutation carriers have measurably higher rates of regional GM atrophy than non-carriers even in the pre-dementia stages.

The Leganés cognitive test correlates poorly with MRI evidence of global cortical atrophy in an underserved community: A population-based and nested case-control study in rural Ecuador (The Atahualpa Project) / O teste cognitivo Leganés tem baixa correlação com atrofia cortical global avaliada por RM em uma comunidade socialmente desprovida. Um estudo de base populacional e caso-controle no Equador Rural (Projeto Atahualpa)

We aimed to evaluate whether the Leganés cognitive test (LCT) correlates with global cortical atrophy (GCA) and can be used as a surrogate for structural brain damage. Methods: Atahualpa residents aged greater 60 years identified during a door-to-door survey underwent MRI for grading GCA. Using multivariate generalized linear models, we evaluated whether continuous LCT scores correlated with GCA, after adjusting for demographics, education, cardiovascular health (CVH) status, depression and edentulism. In a nested case-control study, GCA severity was assessed in subjects with LCT scores below the cutoff level for dementia (? 22 points) and in matched controls without dementia. Results: Out of 311 eligible subjects, 241(78%) were enrolled. Mean age was 69.2±7.5 years, 59% were women, 83% had primary school education, 73% had poor CVHstatus, 12% had symptoms of depression and 43% had edentulism. Average LCT score was 26.7±3, and 23 (9.5%) subjects scored ? 22 points. GCA was mild in 108, moderate in 95, and severe in 26 individuals. On the multivariate model, mean LCT score was not associated with GCA severity (?=0.06, SE=0.34, p=0.853). Severe GCA was noted in 6 / 23 case-patients and in 8/23 controls (OR: 0.67, 95% CI: 0.14-2.81, p=0.752, McNemar?s test). Conclusion: The LCT does not correlate with severity ofGCA after adjusting for potential confounding variables, and should not be used as a reliable estimate of structural brain damage.

O teste cognitivo Leganés (TCL) é um instrumento para o rastreio rápido de demência em idosos com baixo nível educacional. Objetivo: Tivemos como objetivo avaliar se o TCL associa-se com medidas de atrofia cortical global (ACG) e pode ser usado como um substituto para a lesão cerebral estrutural. Métodos: Residentes de Atahualpa com idade maior ou igual 60 anos identificados durante um levantamento porta-a-porta foram submetidos a ressonância magnética para avaliar a intensidade da ACG. Usando modelos lineares generalizados multivariados, avaliamos se escores TCL contínuos correlacionavam com a intensidade da ACG após ajustes para a dados demográficos, educação, saúde cardiovascular (CVH), depressão e edentulismo. Em um estudo caso-controle aninhado, avaliamos a gravidade da ACG em pessoas com escores no TCL abaixo do nível de corte para demência (? 22 pontos) e em pessoas pareados sem demência. Resultados: Dentre as 311 pessoas elegíveis, 241 (78%) foram selecionadas. A média de idade foi de 69,2±7,5 anos, 59% eram mulheres,83% tinham o ensino primário, 73% tinham mau estado CVH, 12% apresentaram sintomas de depressão e 43% tinham edentulismo. Pontuações médias no TCL foram 26,7±3 e 23 (9,5%) pessoas tinham 22 pontos. ACG foi leve em 108, moderada em 95 e grave em 26 pessoas. No modelo multivariado, a média de pontuação no TCL não foi associada com a gravidade da ACG (B=0,06, SE=0,34, p=0,853). ACG grave foi observada em 6 de 23 pacientes e em 8 de 23 controles (OR:0,67; IC 95%: 0,14-2,81, p=0,752, teste de McNemar). Conclusão: O TCL não se associa com a gravidade da ACG após o ajuste para possíveis fatores de confusão e não deve ser usado como uma estimativa confiável de dano cerebral estrutural.

Atrofia cortical posterior / Posterior cortical atrophy. Report of five cases

Posterior cortical atrophy (PCA) is a neurodegenerative syndrome, usually due to Alzheimer's disease. The first symptoms are progressive impairment of visuo spatial (Balint's and Gertsmann's syndromes) or visuo perceptive (visual agnosia, alexia) function. Episodic memory and executive function are spared until later stages. We report two males aged 51 and 55years and three females aged 50, 54 and 56 years, with posterior cortical atrophy. Ophthalmologic study was normal in all. Presenting signs and symptoms were visual ataxia, simultagnosia, agraphia, acalculia, spatial disorientation and unilateral neglect (Balint's and Gerstmann's syndromes). Apperceptive visual agnosia, aphasia, apraxia and alexia were also observed. One female had cortical blindness. Structural images were inconclusive, but PET scan and SPECT disclosed functional impairments in occipitotemporal or occipitoparietal areas.

Relación entre electroencefalograma y neuroimagen en niños con epilepsia focal de difícil control / Relation between electroencephalogram and neuroimaging present in children with epilepsy of difficult control

Las epilepsias focales son las màs frecuentes en los niños, y la resistencia al tratamiento farmacológico puede estar presente hasta en el 30 por ciento de los pacientes. Se realizó este estudio con el objetivo de dirigir la atención hacia la coincidencia topográfica de los paroxismos electroencefalográficos, con lesiones estructurales demostrables por neuroimagen, para facilitar el diseño de estrategias terapéuticas futuras. MÉTODOS. Se realizó un estudio descriptivo, longitudinal prospectivo, con 44 niños con diagnóstico de epilepsia focal de difícil control, ingresados en el Servicio de Neuropediatría del Hospital Pediátrico Docente Juan M Márquez, entre enero de 2003 y junio de 2007. Se realizaron estudios por electroencefalograma (EEG) al ingreso y videoelectroencefalograma, además de estudios de neuroimagen por tomografía axial o resonancia magnética nuclear. RESULTADOS. Los paroxismos en EEG involucraron el lóbulo frontal hasta en el 68 por ciento de los pacientes. En el 48 por ciento de los pacientes, los paroxismos electroencefalográficos coinciden con zonas de alteración estructural según neuroimagen, más frecuentes en el lóbulo frontal. En el 25 por ciento no hay coincidencia topográfica y en el 27 por ciento no se precisan alteraciones estructurales. CONCLUSIONES. En las epilepsias focales de difícil control se debe prestar especial atención a las zonas elocuentes con coincidencia entre el EEG y la neuroimagen, para evaluar de forma temprana las alternativas quirúrgicas de tratamiento.

Focal epilepsies are the more frequent conditions in children and a pharmacologic treatment resistance could be present up to 30 percent of patients. Aim of present paper was to direct the attention to topographic coincidence of electroencephalographic paroxysms with structural lesions by neuroimaging facilitating the future therapeutical strategies design. METHODS: A descriptive, longitudinal, prospective study was conducted in 44 children diagnosed with epilepsy of difficult control admitted in Neuropediatrics Service of Juan Manuel Marquez Teaching Children Hospital from January, 2003 to June, 2007. At admission, we made electroencephalogram (EEG) and videoelectroencephalogram (VEEG) studies as well as neuroimaging studies by axial tomography (AT) or nuclear magnetic resonance (NMR). RESULTS: Paroxysms in EEG involved frontal lobule up to the 68 percent of patients. In 48 percent, electroencephalographic paroxysms coincide with structural alteration zones according neuroimaging, more frequent in frontal lobule. In 25 percent there is not topographic coincidence, and in 27 percent there are not specified structural alterations. CONCLUSIONS: In focal epilepsies of difficult control, we must to take care of eloquent zones with coincident between EEG and neuroimaging to assess in time the surgical treatment options.

A case of Posterior Cortical Atrophy Presenting with Features of Atypical Dementia

Posterior cortical atrophy(PCA) is a presenile dementia that presents primarily with signs and symptoms of cortical visual dysfunction, while memory is relatively preserved until the late stage of the disease. We report a patient with PCA, confirmed by brain magnetic resonance imaging (MRI) and F18-fluorodeoxyglucose positron emission tomography(FDG PET). A 58-year-old right-handed woman presented initially with visual dimness and difficulty finding things around her. She had partial Balint's syndrome, partial Gerstmann syndrome, and idiomotor apraxia. She also had a mild memory disturbance, but preserved insight of her disease. Neuropsychological evaluation showed decreased parietal and left temporal functions bilaterally. Brain MRI and F18-FDG PET revealed typical bilateral occipitoparietal atrophy and hypometabolism, which were slightly worse on the right side. Cholinesterase inhibitor administration for 6 months improved the memory impairment slightly, but not the cortical visual dysfunction. This is a typical case of PCA, confirmed by neurologic signs and imaging findings.

Two Cases of Posterior Cortical Atrophy

Posterior cortical atrophy (PCA) is a subgroup of focal cortical atrophy with progressive degenerative dementia that begins with higher visual dysfunction. We present two patients with symptoms suggestive of PCA. They have mild memory impairment early in the course of disease and intact primary motor and sensory modalities. Parieto-occipital atrophy was evident on brain MRI in one patient and the other was suspicious. We think that these findings are consistent with posterior cortical atrophy which is variant of Alzheimer's disease.

A Case of Angelman Syndrome with Left Hemicortical Atrophy / 대한소아신경학회지

Angelman syndrome is a neurogenetic disorder which results from the loss of expression of a maternal imprinted gene, UBE3A, mapped within 15q11-q13 presenting with various neurodevelopmental problems. We report a 3 year-old-girl who had severe developmental delay, speech impairment, ataxic gait, jerky movement and recurrent seizures with abnormal EEG, characteristic pattern with high amplitude slow spike-and-wave discharge on the bifrontal region. The patient was genetically confirmed Angelman syndrome who had two episode of status epilepticus with cortical atrophic changes on her left hemisphere. Angelman syndrome should be suspected in differential diagnosis in infant who has severe speech and developmental delay, tremulous movement accompanied by cryptogenic seizure disorders including characteristic EEG features.

Striatocapsular Infarct and Aphasia

BACKGROUND: Determining the mechanism for aphasia following a subcortical infarct involving the striatum and internal capsule has been controversial. The aim of this study was to determine the underlying mechanism, which might clarify the relationship between the severity of aphasia and the cortical hypoperfusion in a striatocapsular infarct. METHODS: We included 33 patients with striatocapsular infarcts in the dominant hemisphere on precontrast CT/MRI. A MR angiography (MRA) was done in all patients. Contrast enhanced MRI and/or triphasic perfusion CT (TPCT) were performed in 26 patients to identify slow collateral blood flows. The regional cerebral blood flow was evaluated in 14 out of 33 patients by perfusion SPECT. The index of aphasia severity was the aphasia quotient, measured by the Korean version-Western Aphasia Battery. RESULTS: Twenty-five of 33 patients (75.7%) showed aphasia with different degrees of severity. The four aphasic subgroups were mild (n=9), mild-to-moderate (n=8), moderate-to-severe (n=3), and severe (n=3) groups. Six patients with moderate-to-severe or severe degree of aphasia showed larger infarcts, occlusions of the middle cerebral artery (MCA) stem or internal carotid artery (ICA) on MRA, and abnormal delayed cortical vascular enhancements on MRI and/or TPCT. The severity of aphasia correlated strongly with the degree of perisylvian cortical hypoperfusion on SPECT. Focal perisylvian cortical atrophy on follow-up MRI was found in two patients with greater than moderate-to-severe aphasia. CONCLUSIONS: Aphasia of greater than moderate-to-severe degree following a striato-capsular infarct may be explained by selective neuronal loss of the perisylvian cortex due to the occlusion of the MCA stem or ICA and insufficient collateral blood flow. (J Korean Neurol Assoc 19(1):10~18, 2001