RESUMO
Neurodevelopmental disorders are frequent but underestimated in adult populations, even though the cognitive profile of those affected remains atypical throughout adulthood and the disorders can cause significant impairment in activities of daily living. Retrospective diagnosis in this population is challenging. In this article, the GREDEV (working group for the assessment of neurodevelopmental disorders in adults) proposes a brief screening questionnaire for patients with suspected neurodevelopmental disorders, a checklist to facilitate taking the patient history, a list of self-administered questionnaires, and the different key steps of diagnosing neurodevelopmental disorders in adults.
Assuntos
Atividades Cotidianas , Transtornos do Neurodesenvolvimento , Humanos , Adulto , Estudos Retrospectivos , Transtornos do Neurodesenvolvimento/diagnóstico , Inquéritos e QuestionáriosRESUMO
Twenty-three severe migraine participants were studied to investigate social and emotional cognition features and explore their relationship with depression, anxiety and alexithymia. In comparison to normative data, 74% were under the norm for the Faux Pas subtest, 13% for the facial emotion recognition subtest and 52% for the overall composite score of the mini-SEA. Factor 1, Factor 3, and the total score of the TAS-20 were negatively correlated with the Faux Pas subtest. Our preliminary study shows that severe migraine patients present difficulties in inferring mental states, which could be related to alexithymia. It would be useful to identify these impairments in order to improve the quality of care provided. Clinical Trials registration number: NCT03577548.
Assuntos
Cognição , Transtornos de Enxaqueca , Sintomas Afetivos/diagnóstico , Sintomas Afetivos/epidemiologia , Emoções , Cefaleia , Humanos , Transtornos de Enxaqueca/diagnóstico , Transtornos de Enxaqueca/epidemiologiaRESUMO
Functional movement disorders (FMD) represent a complex and disabling entity characterized by a broad range of clinical symptoms not explained by a classical neurological disease. In 2013, the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) added a clinical criterion based on incongruence and inconsistency, supported by recent literature highlighting the role of "positive clinical signs". These clinical signs allow a "rule-in" procedure in making a diagnosis of FMD so that the diagnosis is no longer a "rule-out" or "by default" diagnosis made after exclusion of other neurological conditions. This review summarizes current evidence on common clinical features and highlights bedside signs in FMD, such as tremor, dystonia, myoclonus and parkinsonism. Tics, chorea and hemiballism are also briefly discussed.
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Transtornos dos Movimentos , Técnicas de Diagnóstico Neurológico/história , Técnicas de Diagnóstico Neurológico/tendências , Manual Diagnóstico e Estatístico de Transtornos Mentais , História do Século XXI , Humanos , Transtornos dos Movimentos/classificação , Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/epidemiologiaRESUMO
INTRODUCTION: Cognitive evaluation of young subjects is now widely carried out for non-traumatic diseases such as multiple sclerosis, HIV, or sleep disorders. This evaluation requires normative data based on healthy adult samples. However, most clinicians use a set of tests that were normed in an isolated manner from different samples using different cutoff criteria. Thus, the score of an individual may be considered either normal or impaired according to the norms used. It is well established that healthy adults obtained low-test scores when a battery of tests is administered. Thus, the knowledge of low base rates is required so as to minimize false diagnosis of cognitive impairment. The aim of this study was twofold (1) to provide normative data for RAPID-II battery in healthy adults, and (2) estimate the proportion of healthy adults having low scores across this battery. METHODS: Norms for the 44 test scores of the RAPID-II test battery were developed using the overall sample of 335 individuals based on three categories of age (20 to 29, 30 to 39, and 40 to 49 years) and two educational levels: Baccalaureate or higher educational degree (high educational level), lower than baccalaureate (low educational level). The 5th, 25th, 50th, and 75th percentiles were calculated from the six age and education subsamples and used to define norms. The frequency of low scores on the RAPID-II battery was calculated by simultaneously examining the performance of 33 primary scores. A low score was defined as less than or equal to the 5th percentile drawn from the six age and education normative subsamples. In addition, the percentages of low scores were also determined when all possible combinations of two-test scores across the RAPID-II were considered in the overall normative sample. RESULTS: Our data showed that 59.4% subjects of the normative sample obtained at least one or more low score. With more than 9 test scores, this percentage was equal to 0% in the normative sample. Among all combinations of two-test scores, 96% had a false positive rate<2%. CONCLUSION: Low scores are very common in young healthy subjects and are more obvious when simultaneously analyzing test scores across a battery of tests and are thus not necessarily indicative of cognitive impairment. The combinations of two-test scores can be a useful tool to improve the interpretation of low scores.
Assuntos
Cognição/fisiologia , Testes Neuropsicológicos , Adulto , Fatores Etários , Disfunção Cognitiva/diagnóstico , Disfunção Cognitiva/psicologia , Escolaridade , Reações Falso-Positivas , Feminino , Voluntários Saudáveis , Humanos , Masculino , Memória , Testes de Estado Mental e Demência , Pessoa de Meia-Idade , Valores de Referência , Teste de Sequência Alfanumérica , Comportamento Verbal , Adulto JovemRESUMO
Attention-Deficit/Hyperactivity Disorder (ADHD), although considered a childhood-onset neurodevelopmental condition, is nevertheless a frequent and disabling condition in adults. A proportion of such patients are not diagnosed during childhood or adolescence, as diagnosis of the syndrome is rather complex, especially when other psychiatric, neurological or other neurodevelopmental conditions are also associated, yet comorbidities and consequences of ADHD are frequently observed in adults and older populations. As ADHD patients present to memory clinics with attentional and executive disorders, neuropsychological examinations of undiagnosed ADHD patients may reveal atypical cognitive profiles that can complicate the usual diagnostic procedure and increase the risk of delayed diagnosis or misdiagnosis. Thus, explorations of cognitive and/or behavioral disorders in adult populations should systematically screen for this neurodevelopmental condition. Accurate diagnosis could lead to non-pharmaceutical and/or pharmaceutical treatments to improve symptoms and quality of life for adult ADHD patients.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Função Executiva/fisiologia , Adulto , Idade de Início , Atenção/fisiologia , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/terapia , Comorbidade , Humanos , Testes Neuropsicológicos , Qualidade de VidaRESUMO
Following a review of the available assessment scales and current practices of evaluation of instrumental activities of daily living (IADL) in French memory centres by GREFON (Groupe de réflexion sur l'évaluation fonctionnelle; Working Group on Functional Assessment), the main aim of this position paper was to provide good clinical practice (GCP) guidelines for the assessment of IADL. Another aim was to highlight the need for innovative tools adapted to the present and future evolution of such activities in real life, including the use of new technologies, the need for earlier detection of IADL impairment during the diagnostic process of mild neurocognitive disorders, and greater sensitivity to IADL changes during follow-up to allow adaptation of clinical management and evaluation of the impact of therapeutic interventions.
Assuntos
Atividades Cotidianas/psicologia , Transtornos da Memória/psicologia , Psicometria , Adulto , Idoso , Idoso de 80 Anos ou mais , Disfunção Cognitiva/psicologia , Disfunção Cognitiva/terapia , Feminino , França , Guias como Assunto , Humanos , Masculino , Transtornos da Memória/terapia , Pessoa de Meia-Idade , Testes Neuropsicológicos , Inquéritos e QuestionáriosRESUMO
INTRODUCTION: Slowing of information processing speed (IPS) is often considered one of the primary deficits seen in multiple sclerosis (MS). IPS is usually measured by tasks that involve many cognitive functions. The aim of this study was to determine whether similar IPS slowing can also be observed during two simple, timed, psychomotor crossing-off tasks. METHOD: The Crossing-Off Test (COT), a simple psychomotor task, was performed under two conditions (COT1 corresponded to writing habits, COT2 used horizontal sweeping) in 25 relapsing-remitting MS patients (EDSS 0-1) and 25 healthy controls. RESULTS: The MS group compared with the control group was impaired on COT1 (P=0.0043) and not on COT2 (P=0.4), and the COT1 performance of MS patients with EDSS 1 was more impaired than those of patients with EDSS 0 (P=0.008). DISCUSSION/CONCLUSION: These results indicate that only some of the IPS cognitive subcomponents linked with COT1 tasks are initially involved in the slowing of IPS during MS, suggesting that different mechanisms are involved in each tested version of the COT.
Assuntos
Processos Mentais , Esclerose Múltipla Recidivante-Remitente/fisiopatologia , Esclerose Múltipla Recidivante-Remitente/psicologia , Desempenho Psicomotor , Adulto , Cognição , Feminino , Escrita Manual , Humanos , Masculino , Movimento , Testes Neuropsicológicos , Tempo de ReaçãoRESUMO
Episodic memory disorders are frequent in patients with temporal lesion. Verbal or visuo-spatial memory disorders depend on the location and the lateralization of the lesion. These disorders are well described in temporal epilepsy but rarely in population with cerebral tumor and especially not specifically focus on temporal glioma. The purpose of this study was to describe neuropsychological examination in patient with temporal glioma in the database of the regional memory centre of Besançon. Four patients were identified (all right-handed and with a left temporal glioma). Verbal episodic memory impairment and auditory-verbal short-term memory impairment were observed. One patient had also visual memory disorders. Therefore, further investigations showed an associated Alzheimer's disease. This finding modified the clinical management of this patient. Extensive neuropsychological assessment should be systematic initially to seek an associated pathology, especially in elderly patients, if the cognitive profile is unusual, during the follow-up to better understand cognitive evolution and the effect of therapies on cognition.
Assuntos
Neoplasias Encefálicas/complicações , Neoplasias Encefálicas/psicologia , Glioma/complicações , Glioma/psicologia , Transtornos da Memória/etiologia , Transtornos da Memória/psicologia , Lobo Temporal , Adolescente , Idoso , Doença de Alzheimer/complicações , Doença de Alzheimer/psicologia , Neoplasias Encefálicas/tratamento farmacológico , Progressão da Doença , Epilepsia/complicações , Feminino , Lateralidade Funcional , Glioma/tratamento farmacológico , Humanos , Masculino , Memória Episódica , Testes Neuropsicológicos , Estudos RetrospectivosRESUMO
The aim of this study was to evaluate the impact, on a regional scale (Franche-Comté), of 3 National Alzheimer care plans, particularly concerning the development of the offer of care management by clinicians as well as the panel of diagnoses concerned. Data on sociodemographic, neuropsychological and diagnostic characteristics were retrieved from the RAPID regional database between 1st January 2003 and 31st December 2012. These analyses focused exclusively on patients who had an initial consultation (n=12,017) during the same period. The existence of a previously established health network capable of carrying out governmental health plans has produced an effective interface between regional administrative structures responsible for the implementation of these plans and health professionals responsible for carrying out them out. This network study, the use of a battery of tests and a common software database have enabled the development of patient care management throughout the Franche-Comté region. It also showed the diversification of diagnoses mentioned over the past years as well as changes in clinical practices on how to address the issue of cognitive impairment.
Assuntos
Bases de Dados Factuais , Gerenciamento Clínico , Transtornos da Memória/epidemiologia , Programas Nacionais de Saúde/organização & administração , Sistema de Registros , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/diagnóstico , Doença de Alzheimer/epidemiologia , Doença de Alzheimer/psicologia , Doença de Alzheimer/terapia , Lesões Encefálicas/diagnóstico , Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/epidemiologia , Transtornos Cognitivos/terapia , Diagnóstico Diferencial , Progressão da Doença , Feminino , França/epidemiologia , Implementação de Plano de Saúde , Humanos , Masculino , Transtornos da Memória/diagnóstico , Transtornos da Memória/terapia , Transtornos Mentais/diagnóstico , Programas Nacionais de Saúde/estatística & dados numéricos , Doenças Neurodegenerativas/diagnóstico , Testes Neuropsicológicos , SoftwareRESUMO
The logopenic variant of primary progressive aphasia is a syndrome with neuropsychological and linguistic specificities, including phonological loop impairment for which diagnosis is currently mainly based on the exclusion of the two other variants, semantic and nonfluent/agrammatic primary progressive aphasia. The syndrome may be underdiagnosed due (1) to mild language difficulties during the early stages of the disease or (2) to being mistaken for mild cognitive impairment or Alzheimer's disease when the evaluation of episodic memory is based on verbal material and (3) finally, it is not uncommon that the disorders are attributed to psychiatric co-morbidities such as, for example, anxiety. Moreover, compared to other variants of primary progressive aphasia, brain abnormalities are different. The left temporoparietal junction is initially affected. Neuropathology and biomarkers (cerebrospinal fluid, molecular amyloid nuclear imaging) frequently reveal Alzheimer's disease. Consequently this variant of primary progressive aphasia does not fall under the traditional concept of frontotemporal lobar degeneration. These distinctive features highlight the utility of correct diagnosis, classification, and use of biomarkers to show the neuropathological processes underlying logopenic primary progressive aphasia. The logopenic variant of primary progressive aphasia is a specific form of Alzheimer's disease frequently presenting a rapid decline; specific linguistic therapies are needed. Further investigation of this syndrome is needed to refine screening, improve diagnostic criteria and better understand the epidemiology and the biological mechanisms involved.
Assuntos
Afasia Primária Progressiva/classificação , Afasia Primária Progressiva/diagnóstico , Comportamento , Comorbidade , Humanos , Testes de Linguagem , Movimento , Neuroimagem/métodos , Testes Neuropsicológicos , SemânticaRESUMO
BACKGROUND/AIMS: Numerous authors have described olfactory dysfunction in multiple sclerosis (MS) in recent years. The aim of this study was to specify the aspects of olfactory perception that are most affected and to identify any correlations with clinical, anatomical and functional data. METHODS: 50 patients with remitting or secondary progressive MS were included. Personal data were collected (medical history, characteristics of their disease, depression and disability scores and number of lesions on cerebral imaging). An olfactory test (Sniffin Sticks®) was used to evaluate subjects' olfactory function. RESULTS: The odor detection threshold is the most sensitive marker, with 40% of patients presenting hyposmia. The ability to identify odors is affected later on, and is inversely correlated with the level of disability. CONCLUSION: Our results confirm that several aspects of olfactory function are altered in MS, particularly those aspects requiring greater cognitive involvement, such as discrimination and identification of odors.
Assuntos
Esclerose Múltipla/complicações , Transtornos do Olfato/etiologia , Adulto , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
INTRODUCTION: White matter lesions seen on MR scan reflect small vessel disease of the brain; increasing age and high blood pressure are the main risk factors. In young patients without vascular risk factors, screening for CADASIL mutation has to be done. Our aim was to describe clinical as well as radiological features of a series of patients without NOTCH3 mutation with severe vascular leukoencephalopathy not explained by the presence of vascular risk factors. MATERIAL AND METHODS: Inclusion criteria were grade 3 leukoencephalopathy according to the Fazekas scale, age<70years at onset, and negative screening for NOTCH3 gene. Patients with severe vascular risk factors or atherosclerosis were excluded. Clinical and MRI findings were analysed. RESULTS: Eight patients (four men) were included, five did not have any vascular risk factor. Mean age at onset was 59.5years. Initial symptoms were progressive in six cases of eight cases. They consisted of astasia-abasia and progressively worsened; of note one patient died 4years after disease onset. Cerebral MRI disclosed marked atrophy in five patients out of eight, temporal lobe (two out of eight) and external capsule (five out of eight) involvement was moderate. Four patients did not have any other atherosclerosis lesion. Seven out of eight had no retinal microangiopathy. High blood pressure was identified in two patients. CONCLUSION: The identification of vascular leukoencephalopathy in young patients without any vascular risk factors should lead the clinician to perform a complete work-up to search for treatable conditions including high blood pressure. Patients with vascular leukoencephalopathy usually present with astasia-abasia. In this context, cerebral MRI, cannot perfectly discriminate between patients with CADASIL from those with acquired small-vessel disease of the brain so that sequencing of NOTCH3 gene exons 2-24 is recommended.
Assuntos
Encéfalo/patologia , Doenças de Pequenos Vasos Cerebrais/patologia , Leucoencefalopatias/patologia , Imageamento por Ressonância Magnética , Idoso , Atrofia , CADASIL/diagnóstico , CADASIL/genética , Doenças de Pequenos Vasos Cerebrais/sangue , Doenças de Pequenos Vasos Cerebrais/diagnóstico por imagem , Doenças de Pequenos Vasos Cerebrais/epidemiologia , Comorbidade , Análise Mutacional de DNA , Diagnóstico Diferencial , Progressão da Doença , Feminino , França/epidemiologia , Humanos , Hiper-Homocisteinemia/epidemiologia , Hipertensão/epidemiologia , Arteriosclerose Intracraniana/epidemiologia , Leucoencefalopatias/sangue , Leucoencefalopatias/diagnóstico por imagem , Leucoencefalopatias/epidemiologia , Masculino , Pessoa de Meia-Idade , Radiografia , Receptor Notch3 , Receptores Notch/genética , Vasos Retinianos/patologia , Fatores de RiscoRESUMO
OBJECTIVE: Cerebral amyloid angiopathy-related inflammation (CAA-ri) is a rare manifestation related to CAA, thought to be more severe. We aimed to compare the clinical and radiological outcomes of CAA-ri and non-inflammatory CAA. MATERIALS AND METHODS: We retrospectively included all patients with CAA-ri from 13 French centers. We constituted a sex- and age-matched control cohort with non-inflammatory CAA and similar disease duration. Survival, autonomy and cognitive evolution were compared after logistic regression. Cerebral microbleeds (CMB), intracerebral hemorrhage, cortical superficial siderosis and hippocampal atrophy were analyzed as well as CSF biomarker profile and APOE genotype when available. Outcomes were compared using Kaplan-Meier curves and log-rank tests. RESULTS: Data from 48 CAA-ri patients including 28 already reported and 20 new patients were analyzed. Over a mean of 3.1 years, 11 patients died (22.9%) and 18 (37.5%) relapsed. CAA-ri patients were more frequently institutionalized than non-inflammatory CAA patients (30% vs 8.3%, p < 0.001); mortality rates remained similar. MMSE and modified Rankin scale scores showed greater severity in CAA-ri at last follow-up. MRI showed a higher number of CMB at baseline and last follow-up in CAA-ri (p < 0.001 and p = 0.004, respectively). CSF showed lower baseline levels of Aß42 in CAA-ri than non-inflammatory CAA (373.3 pg/ml vs 490.8 pg/ml, p = 0.05). CAA-ri patients more likely carried at least one APOE ε4 allele (76% vs 37.5%, adjusted p = 0.05) particularly as homozygous status (56% vs 6.2%, p < 0.001). INTERPRETATION: CAA-ri appears to be more severe than non-inflammatory CAA with a significant loss of autonomy and global higher amyloid burden, shown by more CMB and a distinct CSF profile. This burden may be partially promoted by ε4 allele.
Assuntos
Angiopatia Amiloide Cerebral , Angiopatia Amiloide Cerebral/complicações , Angiopatia Amiloide Cerebral/diagnóstico por imagem , Hemorragia Cerebral/diagnóstico por imagem , Hemorragia Cerebral/etiologia , Humanos , Inflamação , Imageamento por Ressonância Magnética , Estudos RetrospectivosRESUMO
INTRODUCTION: The aim of this study was to propose diagnostic norms for the rapid neuropsychological battery, in the detection of cognitive impairment due to Alzheimer's disease. POPULATION AND METHODS: Three hundred and fifty-two control subjects (mean MMSE : 27.3 ± 2.5) and 676 patients with Alzheimer's disease (mean MMSE : 22.9 ± 2.6) at a mild stage (CDR = 1) were selected according to age (60-69, 70-79 and 80-89 years) and educational level (French primary Education Certificate or lower versus Certificate of Professional Aptitude or the School Leaving Certificate versus the Baccalaureate or higher). Age and education-adjusted cut-off scores were calculated using Receiver Operating Characteristic curves so as to determine the discriminative ability (sensitivity, specificity) of each test from the RAPID neuropsychological battery. Cut-off scores with a specificity set at least at 90% were also proposed. RESULTS: The Free and Cued Recall Test exhibited good sensitivity (from 87% to 100% for free recall and from 85% to 98% for total recall) and specificity (from 85% to 96% for free recall and from 86% to 100% for total recall). For the other tests, sensitivities and specificities were lower. CONCLUSION: The use of these two types of cut-off scores should help the clinician in the diagnosis of Alzheimer's disease by limiting the risk of false positives and false negatives. The choice of the cut-off scores will depend on the patient's individual clinical context.
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Doença de Alzheimer/psicologia , Testes Neuropsicológicos/normas , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Cognição/fisiologia , Manual Diagnóstico e Estatístico de Transtornos Mentais , Escolaridade , Reações Falso-Negativas , Reações Falso-Positivas , Feminino , Humanos , Masculino , Rememoração Mental/fisiologia , Pessoa de Meia-Idade , Curva ROC , Valores de Referência , Tamanho da Amostra , Teste de Sequência AlfanuméricaAssuntos
Amnésia/diagnóstico , Fórnice/patologia , Esclerose Múltipla/diagnóstico , Sintomas Prodrômicos , Distúrbios da Fala/diagnóstico , Adulto , Amnésia/diagnóstico por imagem , Amnésia/etiologia , Amnésia/patologia , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/patologia , Diagnóstico Precoce , Fórnice/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Masculino , Esclerose Múltipla/complicações , Esclerose Múltipla/diagnóstico por imagem , Esclerose Múltipla/patologia , Distúrbios da Fala/diagnóstico por imagem , Distúrbios da Fala/etiologia , Distúrbios da Fala/patologiaRESUMO
INTRODUCTION: Idiopathic vasospastic angiopathy of the internal carotid arteries is a rare and largely unknown cause of ischemic stroke. METHODS: We report the case of a 39-year-old man with migraine treated by beta-blockers, who had been suffering from progressive right visual impairment and headache for one week. He then experienced a seizure and left hemiparesis. Ophthalmological examination revealed right retinal ischemia and partial left homonymous hemianopia. MRI revealed a long stenosis of both carotid arteries and a recent ischemic stroke in the territory of the right middle cerebral artery. The diagnosis of vasospastic angiopathy of the internal carotid arteries was made based on a second MRI and colored duplex sonography which showed a decrease in the stenosis and no intraparietal hematoma confirming the vasospasm mechanism for stenosis. The clinical course was favorable with calcium channel blockers and aspirin. Use of vasoconstrictor treatments was contraindicated. DISCUSSION/CONCLUSION: Idiopathic vasospastic angiopathy of the internal carotid arteries has been rarely documented. Association with migraine has been mentioned but remains unclear in the literature. This etiology for stroke is probably under-diagnosed due to lack of rapid and repeated examinations of the cervical arteries (angio-MR and colored duplex sonography) to confirm the vasospasm mechanism. Recurrences have been reported justifying a specific secondary preventive treatment to induce vasodilatation. Vasoconstrictor treatments should be contraindicated.
Assuntos
Isquemia Encefálica/complicações , Estenose das Carótidas/complicações , Acidente Vascular Cerebral/etiologia , Vasoespasmo Intracraniano/complicações , Adulto , Anti-Inflamatórios não Esteroides/uso terapêutico , Aspirina/uso terapêutico , Isquemia Encefálica/tratamento farmacológico , Bloqueadores dos Canais de Cálcio/uso terapêutico , Estenose das Carótidas/tratamento farmacológico , Angiografia Cerebral , Hemianopsia/etiologia , Humanos , Isquemia/etiologia , Angiografia por Ressonância Magnética , Imageamento por Ressonância Magnética , Masculino , Transtornos de Enxaqueca/etiologia , Paresia/etiologia , Doenças Retinianas/etiologia , Convulsões/etiologia , Acidente Vascular Cerebral/tratamento farmacológico , Ultrassonografia Doppler Dupla , Vasoespasmo Intracraniano/tratamento farmacológicoRESUMO
INTRODUCTION: Familial cortical myoclonic tremor with epilepsy (FCMTE) is defined by an autosomal-dominant inheritance, adult onset of myoclonus of the extremities, infrequent epileptic seizures, a non-progressive course, polyspikes on electroencephalography (EEG), photosensitivity, giant somatosensory-evoked potentials (SEP), enhancement of C-reflex and a premyoclonus spike detected by jerk-locked EEG back-averaging. Two genes yet to be identified are mapped to 8q23.3-q24.1 and 2p11.1-q12.2. METHODS: The present study involved five generations of a French family presenting with FCMTE, including 76 family members. Clinical analyses were performed in 39 living subjects and electrophysiological studies in five patients. Altogether, 27 relatives (21 living and six deceased) had the clinical characteristics of FCMTE, 17 of whom were analyzed. Linkage analyses were performed with microsatellites encompassing the two known loci (8q 23.3-q24.1 and 2p11.1-q12.2). RESULTS: Mean age at onset in the 17 living patients was 28.8 years (range 24-41). All had myoclonus/cortical tremor, and 11/17 had generalized tonic-clonic seizures. Other clinical symptoms were photosensitivity (16 cases), partial seizures (five cases), sensitivity to starvation/exercise (six cases) and vibration (four cases), ophthalmic migraine (six cases) and gait disorders (10 cases). Electrophysiological studies confirmed the FCMTE diagnosis in the five studied patients. Of the remaining relatives, 14 were considered healthy (asymptomatic subjects aged more than 40years) and eight were of unknown status (asymptomatic aged lesser than 40years). The pattern of inheritance was consistent with autosomal-dominant inheritance, although the two loci responsible for FCMTE were excluded. CONCLUSION: This large family highlights some unusual clinical characteristics and suggests the presence of a third gene. Genetic research is ongoing to identify the mutated gene.
Assuntos
Epilepsias Mioclônicas/genética , Epilepsias Mioclônicas/fisiopatologia , Adolescente , Adulto , Idoso , Mapeamento Cromossômico , Eletroencefalografia , Epilepsias Mioclônicas/complicações , Potenciais Somatossensoriais Evocados/fisiologia , Feminino , França , Transtornos Neurológicos da Marcha/complicações , Ligação Genética , Humanos , Escore Lod , Masculino , Pessoa de Meia-Idade , Linhagem , Transtornos de Fotossensibilidade/complicações , Transtornos de Fotossensibilidade/genética , Reflexo/fisiologia , Tremor/complicações , Adulto JovemRESUMO
CONTEXT: Cerebrospinal fluid (CSF) biomarkers are valuable tools for the diagnosis of neurological diseases. We aimed to investigate within a retrospective multicentric study the final diagnosis associated with very high CSF Tau levels and to identify patterns of biomarkers that would differentiate them in clinical practice, to help clinical biologists into physicians' counseling. PATIENTS AND METHODS: Within the national multicentric network ePLM, we included 1743 patients from January 1, 2008, to December 31, 2013, with CSF biomarkers assayed by the same Innotest assays (protein Tau, phospho-Tau [pTau], and Aß 1-42). We identified 205 patients with protein Tau concentration higher than 1200â¯pg/mL and final diagnosis. RESULTS: Among those patients, 105 (51.2%) were suffering from Alzheimer's disease, 37 (18%) from sporadic Creuztfeldt-Jakob disease, and 63 (30.7%) from other neurological diseases including paraneoplastic/ central nervous system tumor, frontotemporal dementia, other diagnoses, amyloid angiopathy, Lewy body dementia, and infections of the central nervous system. Phospho-Tau, Aß1-42 and Aß1-42/pTau values differed significantly between the three groups of patients (pâ¯<â¯.001). An Aß1-42/pTau ratio between 4.7 and 9.7 was suggestive of other neurological diseases (threshold in AD: 8.3). CSF 14-3-3 was useful to discriminate Alzheimer's disease from Creuztfeldt-Jakob disease in case of Aß1-42 concentrations <550â¯pg/mL or pTau>60â¯pg/mL. CONCLUSION: This work emphasizes the interest of a well-thought-out interpretation of CSF biomarkers in neurological diseases, particularly in the case of high Tau protein concentrations in the CSF.