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Resumen: Introducción: El análisis de biomarcadores bioquímicos de enfermedad de Alzheimer (EA) en líquido cefalorraquídeo (LCR) se recomienda como parte del diagnóstico en los centros en los que está disponible. Ante la ausencia de valores universales validados, se recomienda la determinación de puntos de corte (PdC) específicos para cada centro y su población. El objetivo principal del proyecto CORCOBIA fue determinar los PdC de biomarcadores de EA en LCR para varios centros (Parc de Salut Mar de Barcelona y Hospital General de Granollers) que trabajan con el mismo laboratorio de referencia (Laboratori de Referència de Catalunya). Métodos: Estudio prospectivo que incluyó sujetos cognitivamente sanos (n = 42), con deterioro cognitivo ligero amnésico (n = 35) y con demencia tipo Alzheimer (n = 48), a los que se realizó valoración clínica y neuropsicológica, neuroimagen, genotipado APOE y punción lumbar para analizar los péptidos beta-amiloides (Aβ42, Aβ40) y las proteínas tau total (tTau) y tau fosforilada (pTau181) mediante el autoanalizador Lumipulse® G600II (Fujirebio). Se calcularon los valores de sensibilidad y especificidad, los valores predictivos y el área bajo la curva (ABC), determinando el PdC según el índice de Youden comparando los grupos de sujetos cognitivamente sanos y con demencia tipo Alzheimer. Resultados: Los PdC y ABC fueron los siguientes: Aβ42 750 pg/ml (ABC 0,809); Aβ42/Aβ40 0,062 (ABC 0,78); pTau181 69,85 pg/ml (ABC 0,81); tTau 522,0 pg/ml (ABC 0,79); Aβ42/tTau 1,76 (ABC 0,86); Aβ42/pTau181 10,25 (ABC 0,86). Conclusiones: La determinación de PdC para biomarcadores de EA en LCR para los centros participantes permite una mejor precisión diagnóstica, siendo la ratio Aβ42/pTau181 en LCR el parámetro con mayor ABC y mejor balance entre sensibilidad y especificidad. Abstract: Introduction: The analysis of the core biomarkers of Alzheimer's disease (AD) in the cerebrospinal fluid (CSF) is recommended in the clinical units where it is available. Because of the absence of universal validated values, the determination of specific cut-off points (COP) for each center and its population is recommended. The main objective of the CORCOBIA study was to determine the COP of core AD CSF biomarkers for several centers (Parc de Salut Mar, Barcelona, and Hospital General de Granollers), which work with the same reference laboratory (Laboratori de Referència de Catalunya). Methods: Prospective study including cognitively healthy subjects (n = 42), subjects with amnestic mild cognitive impairment (n = 35) and patients with dementia due to AD (n = 48), in whom clinical and neuropsychological assessment, neuroimaging, APOE genotyping and lumbar puncture to analyze amyloid beta peptides (Aβ42, Aβ40), total tau (tTau) and phosphorylated Tau (pTau181) using the Lumipulse® G600II (Fujirebio) was performed. The values of sensitivity, specificity, predictive values and area under the curve (AUC) were calculated, determining the COP according to the Youden index by comparing the groups of cognitively healthy subjects and AD. Results: The resulting COP and their AUC were the following: Aβ42 750 pg/ml (AUC 0.809); Aβ42/Aβ40 0.062 pg/ml (AUC 0.78); pTau181 69.85 pg/ml (AUC 0.81); tTau 522.0 pg/ml (AUC 0.79); Aβ42/tTau 1.76 pg/ml (AUC 0.86); Aβ42/pTau181 10.25 pg/ml (AUC 0.86). Conclusions: The determination of COP of core AD CSF biomarkers for the participating centers allows a better diagnostic accuracy. The ratio CSF Aβ42/pTau181 shows the highest AUC and better balance between sensitivity and specificity.

The presented case study focuses on the complexities and challenges in diagnosing one of the forms of amyloidosis, where abnormal protein (amyloid) deposits in various organs and tissues lead to affection of many organs, especially the heart, kidneys, liver,spleen, and occasionally the central nervous system. Its aetiology remains largely unknown, making diagnosis and treatment particularly challenging. This report details the case of an 88-year-old patient, disabled for months (with a modified Rankin Scale score of 4), who presented to the Neurology Department with sudden right limb paresis and speech disorders. Initial assessments indicated suggested ischemic stroke, and patients received thrombolysis. Further laboratory tests and imaging, including serum protein electrophoresis and computer tomograph (CT) scans, suggested transthyretin amyloidosis (ATTR), which was later confirmed through genetic testing. This case underscores the rapid, multi-organ progression of amyloidosis and its devastating impact, highlighting the necessity for early diagnosis and a multidisciplinary treatment approach. Despite ongoing research, the pathogenesis of amyloidosis remains elusive, and current treatment options are primarily symptomatic. This study aims to shed light on the diagnostic difficulties and the urgent need for timely intervention in amyloidosis cases.

ABSTRACT Amyloidosis is a rare disease in which ocular involvement may occur as an isolated event or associated with a systemic disease. This paper describes two clinical cases of ophthalmologic manifestations of amyloidosis: a bilateral eyelid lesion similar to xanthelasma and tarsal conjunctival disease similar to follicular conjunctivitis. The anatomopathological analysis confirmed the diagnosis.

Resumen: Objetivo: El objetivo de este estudio fue investigar el rol y pronóstico de los biomarcadores de enfermedad de Alzheimer en pacientes con diagnóstico clínico de deterioro cognitivo leve (DCL) en una clínica de memoria de Latinoamérica. Método: Ochenta y nueve pacientes con DCL, 43 con demencia tipo Alzheimer y 18 controles normales apareados por edad, sexo y escolaridad fueron estudiados con un extenso protocolo demográfico, neurológico y neuropsicológico en la clínica de memoria del Instituto FLENI de Buenos Aires. Todos completaron una RM cerebral, una PET con FDG, una PET con estudios amiloideo (PIB), genotipificación de APOE y estudio de Aβ1-42, tau and f-tau de líquido cefalorraquídeo. Basado en la presencia/ausencia de patología amiloidea y neurodegeneración los pacientes fueron categorizados como A+/A− y N+/N− respectivamente. Resultados: En el estudio de líquido cefalorraquídeo el 18% de los controles, el 64% de los DCL y el 92% de las demencia tipo Alzheimer tenían patología amiloidea; y un 11% de los controles, el 6% de los DCL y el 8% de las DTA eran sospechosos de fisiopatología no Alzheimer. En el seguimiento a los 30 meses el 45% de los DCL con amiloide positivo y el 20% de los que presentaron amiloide negativo progresaron a demencia. Conclusiones: Este estudio muestra el pronóstico de los DCL basado en los biomarcadores, y respalda su importancia en la toma de decisiones en la práctica diaria. Abstract: Objective: This study aimed to investigate the role and prognosis of Alzheimer disease biomarkers in patients with mild cognitive impairment (MCI) at a memory clinic in Latin America. Methods: We studied 89 patients with MCI, 43 with Alzheimer-type dementia, and 18 healthy controls (matched for age, sex, and educational level) at our memory clinic (Instituto FLENI) in Buenos Aires, Argentina. Patients and controls underwent an extensive demographic, neurological, and neuropsychological assessment. All subjects underwent a brain MRI scan; FDG-PET scan; amyloid PET scan; apolipoprotein E genotyping; and cerebrospinal fluid concentrations of Aβ1-42, tau, and phosphorylated tau. Patients were categorised as positive or negative for the presence of amyloid pathology and neurodegeneration. Results: Amyloid pathology was observed in cerebrospinal fluid results in 18% of controls, 64% of patients with MCI, and 92% of patients with Alzheimer-type dementia. Suspected non–Alzheimer disease pathophysiology was found in 11% of controls, 6% of patients with MCI, and 8% of patients with Alzheimer-type dementia. At 30 months of follow-up, 45% of amyloid-positive patients with MCI and 20% of amyloid-negative patients with MCI showed progression to dementia. Conclusions: This study demonstrates biomarker-based MCI prognosis and supports its role in clinical decision-making in daily practice.

AL amyloidosis (formerly called primary amyloidosis) is a rare systemic entity, with an unknown incidence in the world, which can develop heart involvement in almost half of patients, leading to restrictive cardiomyopathy by amyloid tissue deposit. We present 3 cases of patients who consulted for acute heart failure and syncope, in which the diagnosis of AL amyloidosis was finally confirmed. We conclude with a brief review of the literature, emphasizing clinical elements for an early diagnosis.

Cardiac amyloidosis is a type of amyloidosis in which one of the affected organs is the heart. The disease is characterized by the formation of protein aggregates between the cells of the organ, namely amyloid, which disables its function. The following types of amyloidosis can be distinguished: systemic senile amyloidosis (wild-type ATTR), light chain amyloidosis (AL) and hereditary transthyretin-related amyloidosis. The symptoms include, e.g., systolic dysfunction or arrhythmia. The treatment is focused on the therapy with melphalan and, additionally, stem cells transplant and chemotherapy with dexamethasone or cyclophosphamide. In the advanced stage of the disease, a heart transplant is necessary. The diagnosis is made on the basis of laboratory testing, electrocardiogram changes, and echocardiography.

Introducción: La amiloidosis es una enfermedad crónica infrecuente, que se caracteriza por el depósito extracelular de proteínas fibrilares en diversos órganos y tejidos. Las manifestaciones clínicas se basan según el sitio de los depósitos y de la proteína precursora involucrada. La principal herramienta de diagnóstico es la sospecha clínica. El pronóstico suele ser sombrío. El objetivo de este estudio es describir los acontecimientos que fueron sucediendo en el tiempo para llegar a lo que conocemos en la actualidad como amiloidosis. Materiales y métodos: se realizó un estudio exploratorio, narrativo, de carácter histórico. Se revisaron fuentes primarias y fuentes documentales existentes. Desarrollo: Las primeras descripciones de pacientes con amiloidosis datan de mediados de 1600 d.c. Éstas eran descripciones anatómicas, reportadas a partir de autopsias de pacientes. Las primeras aproximaciones al diagnóstico fueron a través de tinciones con iodo y anilinas, llegando por último a la difracción por rayos x, y la microscopía con luz polarizada bajo tinción con rojo Congo. Conclusiones: A pesar de ser una entidad nosológica conocida desde hace cuatro siglos, las dificultades para caracterizar el origen y comprender la fisiopatología de la amiloidosis aún permanecen. Durante décadas hubo controversias acerca de la nomenclatura y la naturaleza del material amiloideo. El diagnóstico y el manejo de esta enfermedad siguen dependiendo de los avances en la tecnología, siendo actualmente un desafío en el manejo de los pacientes que padecen amiloidosis.

Sin resumen

Cardiac amyloidosis (CA) refers to an infiltrative process involving amyloid fibril deposition in the myocardium causing restrictive cardiomyopathy. While various types can affect the heart, the predominant forms are immunoglobulin light-chain (AL) amyloidosis and transthyretin (ATTR) amyloidosis. This review article explores the expanding field of imaging techniques used to diagnose AL-CA and ATTR-CA, highlighting their usefulness in prognostication and disease surveillance. Echocardiography is often the initial imaging modality to suspect CA and, since the incorporation of nonbiopsy criteria using bone scintigraphy, diagnosing ATTR-CA has become more attainable following exclusion of plasma cell dyscrasia. Cardiac magnetic resonance is progressively emerging as a vital tool for imaging CA, and is used in diagnosis, prognostication, and disease surveillance. The use of cardiac magnetic resonance in AL-CA is discussed, as it has been shown to accurately evaluate organ response to chemotherapy. As novel drug treatments emerge in the realm of ATTR-CA, the use of cardiovascular imaging surveillance to monitor disease progression is discussed, as it is gaining prominence as a critical consideration. The ongoing phase III trials investigating treatments for patients with ATTR-CA, will undoubtedly enhance our understanding of cardiac imaging surveillance., (Copyright © 2023 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.)

Introduction: amyloidosis is the extracellular accumulation of amyloid material, which causes damage in the functioning of organs and tissues. It is characterized by the presence of protein folding, which acquire the capacity of self-assembly creating unusual configurations. Case reports: the case reports of two female patients are presented. Both with 47 years of age, who died without clinical diagnosis. Due to not evident cause of the deaths, clinical autopsies were carried out. Massive presence of amyloid in different organs was found, which was confirmed with the Congo red staining method and the assessment in the polarized light microscopy. Multiple organ dysfunction syndromes secondary to the presence of systemic amyloidosis was diagnosed and in both patients was considered as the cause of death. Conclusion: the clinical symptoms of the amyloidosis are variable and nonspecific, depending of the extracellular deposits and its location in the body. It is a challenge to do a diagnosis. It is recommended to consider the diagnostic possibility of the amyloidosis in patients with suggestive symptoms of damage in the function of the organ and it is required the histological confirmation. Rev. cienc.biomed. 2014;5(1):123-129 KEYWORDS Amyloid, Amyloid beta-protein precursor, Amyloidosis, Autopsy.

Amyloid goitre is an infrequent benign entity characterized by a rapid increase in the size of the thyroid gland due to amyloid deposit in the parenchyma. Such an increase in size, which takes place over only a few months, can cause symptoms such as dyspnea, dysphagia and dysphonia. We present three cases diagnosed in the same centre and estimated its incidence. All cases showed similar morphology, with varying proportions of thyroid follicles, mature adipose tissue and amyloid. AA Amyloid accumulation was verified and associated to previous pathologies (Crohn's disease, juvenile rheumatoid arthritis and chronic renal disease). One case showed a papillary microcarcinoma. Amyloid goitre is an infrequent entity which should be considered in the differential diagnosis of all patients with goitre, especially those with chronic underlying diseases., (Copyright © 2020 Sociedad Española de Anatomía Patológica. Publicado por Elsevier España, S.L.U. All rights reserved.)

A amiloidose é uma doença complexa rara de difícil diagnóstico que ocorre devido à deposição de substância amilóide no meio extracelular. Ao ser diagnosticado na cavidade bucal, deve-se monitorar o paciente a fim de avaliar possíveis complicações sistêmicas da doença. Diante disso, o objetivo do presente estudo é relatar um caso de amiloidose oral em uma paciente do gênero feminino de 72 anos de idade. Baseado nos sinais clínicos observados, a hipótese diagnóstica foi de fibroma traumático. Após realização de biópsia e exame histopatológico, o diagnóstico foi de amiloidose oral, o que foi confirmado com a coloração do espécime com o reagente vermelho congo. Depósitos de amilóide foram encontrados no tecido conjuntivo, na avaliação através da luz polarizada, que apresentou birrefringência. Tal achado foi preocupante, já que a amiloidose geralmente acomete diversos tecidos levando a comprometimentos sistêmicos. Por essa razão a paciente foi encaminhada a procurar atendimento médico. No entanto, houve abandono do tratamento e a mesma veio a óbito 6 meses após o diagnóstico da doença. Lesões orais aparentemente simples podem revelar doenças raras e de difícil tratamento. O diagnóstico preciso e acompanhamentos médicos são fundamentais na sobrevida do paciente.La amiloidosis es una enfermedad compleja, rara, de difícil diagnóstico, que ocurre debido al depósito de sustancia amiloidea en medio extracelular. Al ser diagnosticada en la cavidad bucal, el paciente debe tener supervisión médica para evaluar las posibles complicaciones sistémicas de la enfermedad. El objetivo del presente estudio fue presentar un caso de amiloidosis bucal en un paciente del género femenino de 72 años de edad. Basados en las señales clínicas observadas, la hipótesis diagnóstica fue de un fibroma traumático. Después de la realización de una biopsia y del examen histopatológico, el diagnóstico fue de amiloidosis, confirmado con la coloración del espécimen con el reactivo rojo congo. Los depósitos de amiloide fueron encontrados en el tejido conjuntivo, que con la luz polarizada presentó birrefringencia. Tal hallazgo fue preocupante, ya que la amiloidosis afecta diversos tejidos, lo que puede provocar complicaciones sistémicas. Por esa razón la paciente fue orientada a buscar atención médica. Sin embargo, abandonó el tratamiento y falleció 6 meses después del diagnóstico de la enfermedad. Lesiones bucales aparentemente simples pueden revelar enfermedades raras y de difícil tratamiento. El diagnóstico preciso y la supervisión médica son fundamentales para la sobrevida del paciente.Amyloidosis is an uncommon complicated disease of a difficult diagnosis occurring due to the amyloid substance depot in the extracellular medium. Being diagnosed in the oral cavity, the patient must to be supervised to assess the potential systemic complications of disease. The aim of present paper was to present a case of oral amyloidosis in a female patient ages 72 presenting with traumatic fibroma. After performance of a biopsy and the histopathological examination, the diagnosis was the presence of amyloidosis, confirmed with the help of the sample using Congo red reactant. Amyloid depots were found in the conjunctive tissue which under the polarized light showed birefringence. This finding was worrying since the amyloidosis involves different tissues leading to systemic complications. Thus, the patient was oriented to search medical care; however she abandons treatment dying 6 months after diagnosis of the disease. The apparently single oral injuries may to reveal uncommon diseases and of difficult treatment. The precise treatment and the medical supervision are essential in the patient's survival.

El substrato patológico de la principal de las demencias, lo constituyen las siguientes lesiones: la degeneración neurofibrilar abundante y difusa, las placas neuríticas y el depósito anormal de sustancia amiloide en el cerebro, causante de la toxicidad cerebral. La demencia en la enfermedad de Alzheimer cumple con un patrón clínico-topográfico de tipo cortical característico. Su diagnóstico definitivo es anatomopatológico, pero se puede establecer un diagnóstico probable basado en la clínica y en la evaluación neuropsicológica. No existe tratamiento efectivo concluyente para el deterioro cognitivo de la enfermedad de Alzheimer.The pathological substrate of the main dementia is composed of the following lesions: the diffuse and abundant neurofibrillar degeneration, the neuritic plaques and the abnormal deposit of amyloid substance in the brain, causing cerebral toxicity. Dementia in Alzheimer's disease accomplishes a clinicotopographic pattern of characteristic cortical type. Its definitive diagnosis is anatomopathological, but a probable diagnosis based on the clinic and the neuropsychological evaluation can be established. There is no a concluding effective treatment for the cognitive deterioration of Alzheimer's disease.

Objective: This study aimed to investigate the role and prognosis of Alzheimer disease biomarkers in patients with mild cognitive impairment (MCI) at a memory clinic in Latin America., Methods: We studied 89 patients with MCI, 43 with Alzheimer-type dementia, and 18 healthy controls (matched for age, sex, and educational level) at our memory clinic (Instituto FLENI) in Buenos Aires, Argentina. Patients and controls underwent an extensive demographic, neurological, and neuropsychological assessment. All subjects underwent a brain MRI scan; FDG-PET scan; amyloid PET scan; apolipoprotein E genotyping; and cerebrospinal fluid concentrations of Aβ 1-42 , tau, and phosphorylated tau. Patients were categorised as positive or negative for the presence of amyloid pathology and neurodegeneration., Results: Amyloid pathology was observed in cerebrospinal fluid results in 18% of controls, 64% of patients with MCI, and 92% of patients with Alzheimer-type dementia. Suspected non-Alzheimer disease pathophysiology was found in 11% of controls, 6% of patients with MCI, and 8% of patients with Alzheimer-type dementia. At 30 months of follow-up, 45% of amyloid-positive patients with MCI and 20% of amyloid-negative patients with MCI showed progression to dementia., Conclusions: This study demonstrates biomarker-based MCI prognosis and supports its role in clinical decision-making in daily practice., (Copyright © 2018 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.)

A 35-year-old woman with progressive decrease of vision in both eyes and with no other associated symptoms, manifested as the only antecedent, the death of her brother due to amyloidosis. The visual acuity was counting fingers at 30 centimetres in the right eye and 20/70 in the left eye. In ophthalmoscopy of the right eye, a white, homogeneous vitreous, that was difficult to assess in detail, was observed, and in the left eye a whitish vitreous with band-like opacities in the cortical region. Vitrectomy was performed in the right eye, and a study with specific stains showed positive for amyloid material. A case is reported of amyloidosis diagnosed with specific stains in a vitreous sample for which the initial and only manifestation was the presence of vitreous opacities. The processing of these samples should be considered in patients with family history, early vitreous opacities, negative results of systemic biopsy, or atypical course of the disease., (Copyright © 2020 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.)

Introduction: Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) typically arises as an autonomic neuropathy primarily affecting small fibres and it occurs in adult patients in their second or third decades of life. It progresses rapidly and can lead to death in approximately 10 years. Other phenotypes have been described in non-endemic areas., Objectives and Methods: We described 4 cases from the Spanish province of Guipuzcoa, a non-endemic area, to highlight the clinical variability of this disease., Patients and Results: Three patients presented a late-onset form manifesting after the age of 50, featuring a predominantly motor polyneuropathy initially causing distal impairment of the lower limbs followed by the upper limbs. One patient suffered severe neuropathic pain. None showed signs of autonomic involvement. The fourth patient, of Portuguese descent, presented a typical form with onset in her thirties, neuropathic pain and dysautonomia. All patients carry the Val50Met mutation in the TTR gene., Conclusion: FAP is a pleomorphic disease even in patients carrying the same mutation. In non-endemic areas, its main form of presentation may resemble a predominantly motor polyneuropathy developing in the sixth decade of life with no signs of dysautonomia. Given this non-specific presentation and the widely available technical means of studying the TTR gene, we believe that the protocol for the aetiological diagnosis of any polyneuropathy should include genetic sequencing of TTR., (Copyright © 2016 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.)

A amiloidose é uma doença complexa rara de difícil diagnóstico que ocorre devido à deposição de substância amilóide no meio extracelular. Ao ser diagnosticado na cavidade bucal, deve-se monitorar o paciente a fim de avaliar possíveis complicações sistêmicas da doença. Diante disso, o objetivo do presente estudo é relatar um caso de amiloidose oral em uma paciente do gênero feminino de 72 anos de idade. Baseado nos sinais clínicos observados, a hipótese diagnóstica foi de fibroma traumático. Após realização de biópsia e exame histopatológico, o diagnóstico foi de amiloidose oral, o que foi confirmado com a coloração do espécime com o reagente vermelho congo. Depósitos de amilóide foram encontrados no tecido conjuntivo, na avaliação através da luz polarizada, que apresentou birrefringência. Tal achado foi preocupante, já que a amiloidose geralmente acomete diversos tecidos levando a comprometimentos sistêmicos. Por essa razão a paciente foi encaminhada a procurar atendimento médico. No entanto, houve abandono do tratamento e a mesma veio a óbito 6 meses após o diagnóstico da doença. Lesões orais aparentemente simples podem revelar doenças raras e de difícil tratamento. O diagnóstico preciso e acompanhamentos médicos são fundamentais na sobrevida do paciente.

Introduction: Neurodegeneration in Alzheimer disease (AD) begins decades before dementia and patients with mild cognitive impairment (MCI) already demonstrate significant lesion loads. Lack of information about the early pathophysiology in AD complicates the search for therapeutic strategies.Subjective cognitive impairment is the description given to subjects who have memory-related complaints without pathological results on neuropsychological tests. There is no consensus regarding this heterogeneous syndrome, but at least some of these patients may represent the earliest stage in AD., Method: We reviewed available literature in order to summarise current knowledge on subjective cognitive impairment., Results: Although they may not present detectable signs of disease, SCI patients as a group score lower on neuropsychological tests than the general population does, and they also have a higher incidence of future cognitive decline. Depression and psychiatric co-morbidity play a role but cannot account for all cognitive complaints. Magnetic resonance imaging studies in these patients reveal a pattern of hippocampal atrophy similar to that of amnestic mild cognitive impairment and functional MRI shows increased activation during cognitive tasks which might indicate compensation for loss of function. Prevalence of an AD-like pattern of beta-amyloid (Aβ42) and tau proteins in cerebrospinal fluid is higher in SCI patients than in the general population., Conclusions: Memory complaints are relevant symptoms and may predict AD. Interpatient variability and methodological differences between clinical studies make it difficult to assign a definition to this syndrome. In the future, having a standard definition and longitudinal studies with sufficient follow-up times and an emphasis on quantifiable variables may clarify aspects of early AD., (Copyright © 2012 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.)

Introduction and Objectives: Cardiac involvement determines prognosis and treatment options in transthyretin-familial amyloidosis. Cardiac magnetic resonance T 1 mapping techniques are useful to assess myocardial extracellular volume. This study hypothesized that myocardial extracellular volume allows identification of amyloidotic cardiomyopathy and correlates with the degree of neurological impairment in transthyretin-familial amyloidosis., Methods: A total of 31 transthyretin-familial amyloidosis patients (19 mean age, 49 ± 12 years; 26 with the Val30Met mutation) underwent a T 1 mapping cardiac magnetic resonance study and a neurological evaluation with Neuropathy Impairment Score of the Lower Limb score, Norfolk Quality of Life questionnaire, and Karnofsky index., Results: Five patients had cardiac amyloidosis (all confirmed by 99m Tc-DPD scintigraphy). Mean extracellular volume was increased in patients with cardiac amyloidosis (0.490 ± 0.131 vs 0.289 ± 0.035; P = .026). Extracellular volume correlated with age (R = 0.467; P = .008), N-terminal pro-B-type natriuretic peptide (R S = 0.846; P < .001), maximum wall thickness (R = 0.621; P < .001), left ventricular mass index (R = 0.685; P < .001), left ventricular ejection fraction (R = -0.378; P = .036), Neuropathy Impairment Score of the Lower Limb (R S = 0.604; P = .001), Norfolk Quality of Life questionnaire (R S = 0.529; P = .003) and Karnofsky index (R S = -0.517; P = .004). A cutoff value of extracellular volume of 0.357 was diagnostic of cardiac amyloidosis with 100% sensitivity and specificity (P < .001). Extracellular volume and N-terminal pro-B-type natriuretic peptide were the only cardiac parameters that significantly correlated with neurologic scores., Conclusions: Extracellular volume quantification allows identification of cardiac amyloidosis and correlates with the degree of neurological impairment in transthyretin-familial amyloidosis. This noninvasive technique could be a useful tool for early diagnosis of cardiac amyloidosis and to track cardiac and extracardiac amyloid disease., (Copyright © 2016 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.)

Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is a hereditary disease with variable geographical distribution. The aim of this study was to present our experience with TTR-FAP patients. We retrospectively analyzed nine cases belonging to different families. Diagnostic criteria were based on the combination of compatible clinical picture, histopathological findings and genetic confirmation. Five cases showed the classic presentation and other 4 the late onset variant. The p.Val30Met mutation in the TTR gene was found in 6 cases and p.Ala36Pro, p.Thr60Ala and p.Tyr114Cys in the remaining 3, respectively. The median age of symptom onset was 35 years (26-60 range). Mean time to diagnosis was 4.2 ± 1.5 years. Our patient series showed the heterogeneity in clinical presentation of TTR-FAP in a non-endemic region of South America.

Introduction: In the ageing process there are some species of non-human primates which can show some of the defining characteristics of the Alzheimer's disease (AD) of man, both in neuropathological changes and cognitive-behavioural symptoms. The study of these species is of prime importance to understand AD and develop therapies to combat this neurodegenerative disease., Development: In this second part of the study, these AD features are discussed in the most important non-experimental AD models (Mouse Lemur -Microcebus murinus, Caribbean vervet -Chlorocebus aethiops, and the Rhesus and stump-tailed macaque -Macaca mulatta and M. arctoides) and experimental models (lesional, neurotoxic, pharmacological, immunological, etc.) non-human primates. In all these models cerebral amyloid neuropathology can occur in senility, although with different levels of incidence (100% in vervets;<30% in macaques). The differences between normal and pathological (Alzheimer's) senility in these species are difficult to establish due to the lack of cognitive-behavioural studies in the many groups analysed, as well as the controversy in the results of these studies when they were carried out. However, in some macaques, a correlation between a high degree of functional brain impairment and a large number of neuropathological changes ("possible AD") has been found., Conclusions: In some non-human primates, such as the macaque, the existence of a possible continuum between "normal" ageing process, "normal" ageing with no deep neuropathological and cognitive-behavioural changes, and "pathological ageing" (or "Alzheimer type ageing"), may be considered. In other cases, such as the Caribbean vervet, neuropathological changes are constant and quite marked, but its impact on cognition and behaviour does not seem to be very important. This does assume the possible existence in the human senile physiological regression of a stable phase without dementia even if neuropathological changes appeared., (Copyright © 2011 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.)

Background: Domino or sequential liver transplantation (DTXL) is a kind of living donor transplant, which was proposed in 1993 and performed for the first time in 1995; later on, more than 45 have been reported. The liver from a patient with familial amyloidotic polyneuropathy(FAP) is used to another patient aged more than 60 with hepatic disease generally cancer, because FAP livers are anatomically and functionally normal except for the synthesis of the systemic TTR variant which only could generate FAP in the recipient after more than 8 years., Patients and Method: The three first cases of DTXL performed in Spain are presented. The donors were FAPTTRMet30 patients from the Major can focus. The first recipient showed severe hyperinsulinism due to metastatic liver from malignant insulinoma; the others had hepatocellular carcinoma on a cirrhotic liver., Results: During the post operatory period liver function of recipients was perfect,and hyperinsulinism disappeared in the first; this patient died after 10 days by sepsis whereas the others showed normal liver function, no recurrent cancer nor onset of FAP. The donors outcome was normal with perfect liver function., Conclusions: Based on our results, in agreement with previous reports, we conclude that DTXH is valid procedure for a selected patient group. In addition they increase the pool of liver donors and therefore diminish the overloaded waiting lists.

Solitary amyloidoma consists of amyloid tissue deposits in the absence of systemic amyloidosis or plasma cell dyscrasia. Single vertebral amyloidoma is an unusual cause of spinal cord compression. We present the case of a 72-year-old man with medullar compression by amyloidoma affecting the sixth dorsal vertebra and with nuclear magnetic resonance images that were indistinguishable from epidural metastasis. The patient improved notably after resection.

Two cases of non-amyloid light chain deposit disease (EDCL) which were diagnosed by liver biopsy are presented, and the recent literature is reviewed. This disease is a dysproteinemia which shares numerous clinical and pathological features with amyloidosis. A commentary is made on the differential diagnosis between both diseases. This disease must be suspected when the conventional histochemical and immunohistochemical stains for amyloid are negative. Immunohistochemical assays for kappa and lambda chains should then be performed.