«Red flags» en pacientes con polineuropatía amiloidótica familiar relacionada con transtiretina (hATTR) en el momento del diagnóstico en un área no endémica de España / Red flags in patients with hereditary transthyretin amyloidosis at diagnosis in a non-endemic area of Spain

Introducción: La polineuropatía relacionada con el depósito de amiloide por transtiretina (hATTR, por sus siglas en inglés) es una enfermedad poco común, multisistémica, de inicio en la edad adulta con un pronóstico ominoso sin tratamiento. Para reconocer la enfermedad en la etapa más temprana posible, se ha propuesto un grupo de signos y síntomas, comúnmente conocidos como «red flags», y su presencia puede indicar la presencia de una hATTR subyacente en pacientes con polineuropatía sensitivo-motora progresiva.Materiales y métodosSe analizó la frecuencia de «red flags» en el momento del diagnóstico en 30 pacientes con hATTR de un área no endémica de España, con una mayoría de pacientes de inicio tardío.ResultadosLas frecuencias de «red flags» fueron las siguientes: síndrome del túnel carpiano bilateral 15/30 (50%); disautonomía temprana en 17/30 (56%); síntomas gastrointestinales en 14/30 (46,6%); pérdida inexplicable de peso en 8/30 (26,6%); enfermedad cardiaca en 12/30 (40%); hallazgos cardiacos asintomáticos en 13/30 (43,3%); enfermedad renal en 1/30 (3,3%); opacidades vítreas en 0/30 (0%); neuropatía familiar en 21/30 (70%); cardiopatía familiar en 15/30 (50%) y antecedentes familiares gastrointestinales en 3/30 (10%). Todos los pacientes presentaron al menos una «red flag» en el momento del diagnóstico, con una mediana de 4 «red flags».ConclusiónLas «red flags», incluso en los pacientes de inicio tardío, fueron hallazgos comunes en el momento del diagnóstico y su presencia en un paciente con polineuropatía sensitivo-motora simétrica debería alertarnos y conducir el diagnóstico a lo largo de la hATTR hasta excluirlo, independientemente de la edad de inicio o de la región endémica. (AU)

Introduction: Hereditary transthyretin (hATTR) amyloidosis with polyneuropathy is a rare multisystemic disease characterised by onset during adulthood and associated with poor prognosis if untreated. A set of signs and symptoms, commonly known as “red flags,” have been proposed to assist in early detection of the disease; presence of red flags may suggest underlying hATTR amyloidosis in patients with progressive sensorimotor polyneuropathy.Material and methodsWe analysed the frequency of red flags at the time of diagnosis in 30 patients with hATTR amyloidosis in a non-endemic area of Spain; onset was late in the majority of patients.ResultsThe frequencies of the red flags were as follows: bilateral carpal tunnel syndrome in 15 patients (50%), early autonomic dysfunction in 17 (56%), gastrointestinal problems in 14 (46.6%), unexplained weight loss in 8 (26.6%), heart disease in 12 (40%), asymptomatic cardiac findings in 13 (43.3%), kidney disease in one (3.3%), vitreous opacities in none, family history of neuropathy in 21 (70%), family history of heart disease in 15 (50%), and family history of gastrointestinal problems in 3 (10%). All patients presented at least one red flag at diagnosis, with a median of 4 red flags.ConclusionRed flags were common at the time of diagnosis, even in patients with late-onset hATTR amyloidosis. Presence of red flags in a patient with symmetrical sensorimotor polyneuropathy should serve as a warning sign, and lead to targeted diagnosis to rule out hATTR amyloidosis, independently of age of onset. (AU)

Red flags in patients with hereditary transthyretin amyloidosis at diagnosis in a non-endemic area of Spain.

INTRODUCTION: Hereditary transthyretin (hATTR) amyloidosis with polyneuropathy is a rare multisystemic disease characterised by onset during adulthood and associated with poor prognosis if untreated. A set of signs and symptoms, commonly known as "red flags," have been proposed to assist in early detection of the disease; presence of red flags may suggest underlying hATTR amyloidosis in patients with progressive sensorimotor polyneuropathy. MATERIAL AND METHODS: We analysed the frequency of red flags at the time of diagnosis in 30 patients with hATTR amyloidosis in a non-endemic area of Spain; onset was late in the majority of patients. RESULTS: The frequencies of the red flags were as follows: bilateral carpal tunnel syndrome in 15 patients (50%), early autonomic dysfunction in 17 (56%), gastrointestinal problems in 14 (46.6%), unexplained weight loss in 8 (26.6%), heart disease in 12 (40%), asymptomatic cardiac findings in 13 (43.3%), kidney disease in one (3.3%), vitreous opacities in none, family history of neuropathy in 21 (70%), family history of heart disease in 15 (50%), and family history of gastrointestinal problems in 3 (10%). All patients presented at least one red flag at diagnosis, with a median of 4 red flags. CONCLUSION: Red flags were common at the time of diagnosis, even in patients with late-onset hATTR amyloidosis. Presence of red flags in a patient with symmetrical sensorimotor polyneuropathy should serve as a warning sign, and lead to targeted diagnosis to rule out hATTR amyloidosis, independently of age of onset.

Nivolumab: «Tormenta inmune» en paciente con miastenia gravis previa / Nivolumab: An «Immune storm» in a patient with history of myasthenia gravis

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Red flags in patients with hereditary transthyretin amyloidosis at diagnosis in a non-endemic area of Spain. / «Red flags¼ en pacientes con polineuropatía amiloidótica familiar relacionada con transtiretina (hATTR) en el momento del diagnóstico en un área no endémica de España.

INTRODUCTION: Hereditary transthyretin (hATTR) amyloidosis with polyneuropathy is a rare multisystemic disease characterised by onset during adulthood and associated with poor prognosis if untreated. A set of signs and symptoms, commonly known as "red flags," have been proposed to assist in early detection of the disease; presence of red flags may suggest underlying hATTR amyloidosis in patients with progressive sensorimotor polyneuropathy. MATERIAL AND METHODS: We analysed the frequency of red flags at the time of diagnosis in 30 patients with hATTR amyloidosis in a non-endemic area of Spain; onset was late in the majority of patients. RESULTS: The frequencies of the red flags were as follows: bilateral carpal tunnel syndrome in 15 patients (50%), early autonomic dysfunction in 17 (56%), gastrointestinal problems in 14 (46.6%), unexplained weight loss in 8 (26.6%), heart disease in 12 (40%), asymptomatic cardiac findings in 13 (43.3%), kidney disease in one (3.3%), vitreous opacities in none, family history of neuropathy in 21 (70%), family history of heart disease in 15 (50%), and family history of gastrointestinal problems in 3 (10%). All patients presented at least one red flag at diagnosis, with a median of 4 red flags. CONCLUSION: Red flags were common at the time of diagnosis, even in patients with late-onset hATTR amyloidosis. Presence of red flags in a patient with symmetrical sensorimotor polyneuropathy should serve as a warning sign, and lead to targeted diagnosis to rule out hATTR amyloidosis, independently of age of onset.

La gestión de la asistencia neurológica en tiempos de la pandemia de Covid-19 / Management of neurological care during the COVID-19 pandemic

INTRODUCCIÓN: La pandemia de Covid-19 ha supuesto la necesidad de tomar decisiones para mantener la asistencia neurológica, sin precedentes. En este artículo se analiza esa toma de decisiones operativas. Desarrollo: Los autores refieren las fórmulas empleadas como son la realización de un plan de reorganización funcional, estrategias para la hospitalización y urgencias, la realización de consultas telefónicas para el mantenimiento de la atención neurológica, la asistencia en un área externa al hospital para pacientes preferentes, las decisiones sobre exploraciones complementarias y tratamientos intrahospitalarios periódicos o implantar un teléfono para la priorización de crisis epilépticas. CONCLUSIÓN: A pesar de la situación de aislamiento, los servicios de neurología deben mantener la atención de sus pacientes a través de distintas fórmulas operativas, que como cualquier elemento de gestión, deberán evaluarse

INTRODUCTION: The COVID-19 epidemic has led to the need for unprecedented decisions to be made to maintain the provision of neurological care. This article addresses operational decision-making during the epidemic. Development: We report the measures taken, including the preparation of a functional reorganisation plan, strategies for hospitalisation and emergency management, the use of telephone consultations to maintain neurological care, provision of care at a unit outside the hospital for priority patients, decisions about complementary testing and periodic in-hospital treatments, and the use of a specific telephone service to prioritise patients with epileptic seizures. CONCLUSION: Despite the situation of confinement, neurology departments must continue to provide patient care through different means of operation. Like all elements of management, these must be evaluated

Management of neurological care during the COVID-19 pandemic. / La gestión de la asistencia neurológica en tiempos de la pandemia de Covid-19.

INTRODUCTION: The COVID-19 epidemic has led to the need for unprecedented decisions to be made to maintain the provision of neurological care. This article addresses operational decision-making during the epidemic. DEVELOPMENT: We report the measures taken, including the preparation of a functional reorganisation plan, strategies for hospitalisation and emergency management, the use of telephone consultations to maintain neurological care, provision of care at a unit outside the hospital for priority patients, decisions about complementary testing and periodic in-hospital treatments, and the use of a specific telephone service to prioritise patients with epileptic seizures. CONCLUSION: Despite the situation of confinement, neurology departments must continue to provide patient care through different means of operation. Like all elements of management, these must be evaluated.

La infusión intracerebroventricular prolongada de líquido cefalorraquídeo procedente de pacientes con esclerosis lateral amiotrófica provoca cambios histológicos en el cerebro y la médula espinal de la rata similares a los hallados en la enfermedad / Histological changes in the rat brain and spinal cord following prolonged intracerebroventricular infusion of cerebrospinal fluid from amyotrophic lateral sclerosis patients are similar to those caused by the disease

INTRODUCCIÓN: La exposición de líquido cefalorraquídeo (LCR) de pacientes con esclerosis lateral amiotrófica (ELA) induce efectos citotóxicos en cultivos celulares de neuronas motoras in vitro. MATERIAL Y MÉTODOS: Se seleccionó LCR de 32 pacientes con ELA que previamente habían demostrado efectos citotóxicos. Se implantaron con minibombas osmóticas intracerebroventriculares (ICV) en 28 ratas macho adultas y se dividieron en 3 grupos: 9 ratas de LCR de pacientes no-ELA, 15 ratas de ELA-LCR citotóxico y 4 ratas de una solución salina fisiológica. El LCR se administró por vía ICV de forma continua durante periodos de 20 o 43 días. Se realizó la evaluación clínica, electromiográfica y análisis de tejidos después de sacrificio a los 20, 45 y 82 días tras la cirugía. RESULTADOS: Los estudios inmunohistoquímicos muestran daño en los tejidos con características similares a las encontradas en formas esporádicas de ELA, tales como sobre expresión de cistatina C, transferrina y la proteína en el TDP-43 citoplasmática. Los primeros cambios observados parecían jugar un papel protector por la sobreexpresión de periferina, panAKT, fosfoAKT y metalotioneínas; esta expresión habría disminuido al momento de analizar las ratas que se sacrificaron al día 82, en el que hay un aumento de apoptosis. Los primeros cambios celulares identificados fueron la constatación de activación de la microglía seguido por astrogliosis con sobreexpresión de GFAP y proteína S100B. CONCLUSIONES: Nuestros datos parecen indicar que la ELA podría propagarse a través del LCR, y que la administración ICV de ELA-LCR citotóxico produce cambios similares a los encontrados en las formas esporádicas de la enfermedad

INTRODUCTION: Cerebrospinal fluid (CSF) from amyotrophic lateral sclerosis (ALS) patients induces cytotoxic effects in in vitro cultured motor neurons. MATERIAL AND METHODS: We selected CSF with previously reported cytotoxic effects from 32 ALS patients. Twenty-eight adult male rats were intracerebroventricularly implanted with osmotic mini-pumps and divided into 3 groups: 9 rats injected with CSF from non-ALS patients, 15 rats injected with cytotoxic ALS-CSF, and 4 rats injected with a physiological saline solution. CSF was intracerebroventricularly and continuously infused for periods of 20 or 43days after implantation. We conducted clinical assessments and electromyographic examinations, and histological analyses were conducted in rats euthanised 20, 45, and 82days after surgery. RESULTS: Immunohistochemical studies revealed tissue damage with similar characteristics to those found in the sporadic forms of ALS, such as overexpression of cystatin C, transferrin, and TDP-43 protein in the cytoplasm. The earliest changes observed seemed to play a protective role due to the overexpression of peripherin, AKTpan, AKTphospho, and metallothioneins; this expression had diminished by the time we analysed rats euthanised on day 82, when an increase in apoptosis was observed. The first cellular changes identified were activated microglia followed by astrogliosis and overexpression of GFAP and S100B proteins. CONCLUSION: Our data suggest that ALS could spread through CSF and that intracerebroventricular administration of cytotoxic ALS-CSF provokes changes similar to those found in sporadic forms of the disease

Histological changes in the rat brain and spinal cord following prolonged intracerebroventricular infusion of cerebrospinal fluid from amyotrophic lateral sclerosis patients are similar to those caused by the disease. / La infusión intracerebroventricular prolongada de líquido cefalorraquídeo procedente de pacientes con esclerosis lateral amiotrófica provoca cambios histológicos en el cerebro y la médula espinal de la rata similares a los hallados en la enfermedad.

INTRODUCTION: Cerebrospinal fluid (CSF) from amyotrophic lateral sclerosis (ALS) patients induces cytotoxic effects in in vitro cultured motor neurons. MATERIAL AND METHODS: We selected CSF with previously reported cytotoxic effects from 32 ALS patients. Twenty-eight adult male rats were intracerebroventricularly implanted with osmotic mini-pumps and divided into 3 groups: 9 rats injected with CSF from non-ALS patients, 15 rats injected with cytotoxic ALS-CSF, and 4 rats injected with a physiological saline solution. CSF was intracerebroventricularly and continuously infused for periods of 20 or 43days after implantation. We conducted clinical assessments and electromyographic examinations, and histological analyses were conducted in rats euthanised 20, 45, and 82days after surgery. RESULTS: Immunohistochemical studies revealed tissue damage with similar characteristics to those found in the sporadic forms of ALS, such as overexpression of cystatinC, transferrin, and TDP-43 protein in the cytoplasm. The earliest changes observed seemed to play a protective role due to the overexpression of peripherin, AKTpan, AKTphospho, and metallothioneins; this expression had diminished by the time we analysed rats euthanised on day 82, when an increase in apoptosis was observed. The first cellular changes identified were activated microglia followed by astrogliosis and overexpression of GFAP and S100B proteins. CONCLUSION: Our data suggest that ALS could spread through CSF and that intracerebroventricular administration of cytotoxic ALS-CSF provokes changes similar to those found in sporadic forms of the disease.

Cerebrospinal fluid cytotoxicity does not affect survival in amyotrophic lateral sclerosis.

OBJECTIVES: Cerebrospinal fluid (CSF) from some patients with amyotrophic lateral sclerosis (ALS) has been demonstrated to significantly reduce the neuronal viability of primary cell cultures of motor neurons. We aimed to study the potential clinical consequences associated with the cytotoxicity of CSF in a cohort of patients with ALS. METHODS: We collected CSF from thirty-one patients with ALS. We analysed cytotoxicity by incubating it into the primary cultures of motor cortex neurons. Neural viability was quantified after 24 hours using the colorimetric MTT reduction assay. All patients were followed up from the moment of diagnosis to death, and a complete evaluation during disease progression and survival was performed, including gastrostomy and respiratory assistance. RESULTS: Twenty-one patients (67.7%) presented a cytotoxic CSF. There were no significant differences between patients with and without cytotoxicity regarding mean time from symptom onset to the diagnosis, from the diagnosis to death, from the diagnosis to respiratory assistance with BIPAP, from diagnosis to gastrostomy and from the onset of symptoms to death. In Cox regression analysis, bulbar onset, but not cytotoxicity, gender or age at onset, was associated with a lower risk of survival. CONCLUSIONS: Cerebrospinal fluid cytotoxicity was not associated with differential survival rates. This suggests that the presence of cytotoxicity in CSF, measured through neuronal viability in primary cultures of motor cortex neurons, could reflect different mechanisms of the disease, but it does not predict disease outcome.

Cambios celulares producidos por la citotoxicidad del líquido cefalorraquídeo de pacientes con esclerosis lateral amiotrófica sobre cultivos de neuronas motoras / Cellular changes in motor neuron cell culture produced by cytotoxic cerebrospinal fluid from patients with amyotrophic lateral sclerosis

Introducción: Los efectos neurotóxicos del líquido cefalorraquídeo (LCR) procedentes de pacientes con esclerosis lateral amiotrófica (ELA) han sido descritos por varios autores que han atribuido esta neurotoxicidad al efecto de glutamato del LCR-ELA. Material y métodos: Se han expuesto cultivos de neuronas embrionarias corticales de rata con un incubación de 24 h y el LCR procedente de pacientes con ELA, valorando las alteraciones celulares a través de microscopía óptica en comparación con aquellas que produce con 100 mM de glutamato y la inmunohistoquímica de caspasa-3, TNF y periferina a través de microscopia confocal. Resultados: En el cultivo expuesto a LCR-ELA se observan células con fragmentación del núcleo con escasa o nula modificación estructural de los organelos citoplasmáticos y mantenimiento de la membrana plasmática, lo que no ocurre con la exposición a glutamato. Se observa un aumento de caspasa-3 y de TNFα y un incremento de periferina que co-localiza con caspasa-3 pero no con TNFα, lo hace sugerir que puede tener un papel precoz en el desarrollo de la apoptosis. Conclusiones: La citotoxicidad por LCR-ELA no se relaciona con el glutamato, que provoca una afectación nuclear precoz sin alteración de la membrana citoplasmática produciendo una apoptosis citoplasmática que conlleva un incremento de caspasa-3 que co-localiza con sobreexpresión anómala de periferina

Introduction: The neurotoxic effects of cerebrospinal fluid (CSF) from patients with amyotrophic lateral sclerosis (ALS) have been reported by various authors who have attributed this neurotoxicity to the glutamate in CSF-ALS. Material and methods: Cultures of rat embryonic cortical neurons were exposed to CSF from ALS patients during an incubation period of 24 hours. Optical microscopy was used to compare cellular changes to those elicited by exposure to 100μm glutamate, and confocal microscopy was used to evaluate immunohistochemistry for caspase-3, TNFα, and peripherin. Results: In the culture exposed to CSF-ALS, we observed cells with nuclear fragmentation and scarce or null structural modifications to the cytoplasmic organelles or to plasma membrane maintenance. This did not occur in the culture exposed to glutamate. The culture exposed to CSF-ALS also demonstrated increases in caspase-3, TNFα, and in peripherin co-locating with caspase-3, but not with TNFalfa, suggesting that TNFα may play an early role in the process of apoptosis. Conclusions: CFS-ALS cytotoxicity is not related to glutamate. It initially affects the nucleus without altering the cytoplasmic membrane. It causes cytoplasmic apoptosis that involves an increase in caspase-3 co-located with peripherin, which is also overexpressed

Cellular changes in motor neuron cell culture produced by cytotoxic cerebrospinal fluid from patients with amyotrophic lateral sclerosis.

INTRODUCTION: The neurotoxic effects of cerebrospinal fluid (CSF) from patients with amyotrophic lateral sclerosis (ALS) have been reported by various authors who have attributed this neurotoxicity to the glutamate in CSF-ALS. MATERIAL AND METHODS: Cultures of rat embryonic cortical neurons were exposed to CSF from ALS patients during an incubation period of 24 hours. Optical microscopy was used to compare cellular changes to those elicited by exposure to 100µm glutamate, and confocal microscopy was used to evaluate immunohistochemistry for caspase-3, TNFα, and peripherin. RESULTS: In the culture exposed to CSF-ALS, we observed cells with nuclear fragmentation and scarce or null structural modifications to the cytoplasmic organelles or to plasma membrane maintenance. This did not occur in the culture exposed to glutamate. The culture exposed to CSF-ALS also demonstrated increases in caspase-3, TNFα, and in peripherin co-locating with caspase-3, but not with TNFα, suggesting that TNFα may play an early role in the process of apoptosis. CONCLUSIONS: CFS-ALS cytotoxicity is not related to glutamate. It initially affects the nucleus without altering the cytoplasmic membrane. It causes cytoplasmic apoptosis that involves an increase in caspase-3 co-located with peripherin, which is also overexpressed.

Amioplasia congenital: importancia de un diagnóstico que ofrece un pronóstico benigno / Congenital amyoplasia: importance of a diagnosis that offers benign prognosis

La amioplasia congenital es un síndrome congénito artrogripótico múltiple específico y esporádico no-hereditario caracterizado por una disminución de la masa muscular. Se trata de la causa más frecuente de artrogriposis múltiple. Nuestro propósito es describir un caso clínico con afectación predominante en miembros superiores, resaltando los datos clínicos claves (sobre todo las peculiares características Facio-craneales que tanto facilitan el diagnóstico), el buen pronóstico a largo plazo y tranquilizador consejo genético que puede ofrecerse una vez realizado un diagnóstico adecuado (AU)

The amyoplasia congénita is a specific multiple arthrogrypotic congential syndrome, sporadic, non-hereditary, characterized by a decrease of muscle mass. It is the most frequent cause of multiple arthrogryposis. Our objective is to describe clinically a typical case with predominant alterations in upper extremities, highlighting the cardinal clinical data (especially all peculiar facial and cranial features that facilitates its diagnosis), the good long-term prognosis and the reassuring genetic counseling that could be offered once a correct diagnosis has been made (AU)

[Cell therapy in amyotrophic lateral sclerosis: science and controversy]. / Terapia celular en la esclerosis lateral amiotrófica: ciencia y controversia.

Stem cell therapy is seen as a possible alternative for the treatment of different degenerative diseases, among which includes amyotrophic lateral sclerosis (ALS). Despite there being basic research works with this therapy in ALS, the mechanism of action of the implanted cells are still unclear. It is also unclear which type of cells to use (bone marrow, fat, dental pulp, etc.), or the most ideal administration route. Furthermore, clinical trials with mesenchymal stem cells are not very conclusive, therefore it has not been convincingly established as an alternative therapy in ALS or any other neurodegenerative disease. Despite the scientific evidence, several clinical trials have been conducted in the last few years that offer stem cell treatments for neurodegenerative diseases, giving rise to what is known as "cellular tourism". This phenomenon has set off alarms and reactions in the scientific community. The application of these therapies must be performed following the good clinical practice guidelines in research, evidence based methodology and international ethical and scientific recommendations.

Terapia celular en la esclerosis lateral amiotrófica: ciencia y controversia / Cell therapy in amyotrophic lateral sclerosis: science and controversy

La terapia con células madre se vislumbra como una posible terapia alternativa al tratamiento de diferentes patologías degenerativas, entre las cuales se encuentra la esclerosis lateral amiotrófica (ELA). En la actualidad, a pesar de que existen trabajos de investigación básica con esta terapia en la ELA, todavía quedan sin esclarecer los mecanismos de actuación de las células madre implantadas, además de no tener claro el tipo de células a utilizar (medula ósea, grasa, pulpa dentaria, etc.) y vía de administración más idónea. A su vez, existen ensayos clínicos con células madre mesenquimales con resultados poco concluyentes, por lo que no se ha podido establecer con contundencia como una terapia alternativa en ELA o cualquier otra enfermedad neurodegenerativa. A pesar de las evidencias científicas, en los últimos años han aparecido diferentes clínicas que ofrecen tratamientos con células madre para enfermedades neurodegenerativas, dando lugar a lo que se conoce como “turismo celular”. Este fenómeno ha activado alarmas y reacciones en la comunidad científica. La aplicación de estas terapias se debe realizar siguiendo las normas de buena práctica clínica en investigación, la metodología basada en la evidencia y las recomendaciones éticas y científicas internacionales (AU)

Stem cell therapy is seen as a possible alternative for the treatment of different degenerative diseases, among which includes amyotrophic lateral sclerosis (ALS). Despite there being basic research works with this therapy in ALS, the mechanism of action of the implanted cells are still unclear. It is also unclear which type of cells to use (bone marrow, fat, dental pulp, etc.), or the most ideal administration route. Furthermore, clinical trials with mesenchymal stem cells are not very conclusive, therefore it has not been convincingly established as an alternative therapy in ALS or any other neurodegenerative disease. Despite the scientific evidence, several clinical trials have been conducted in the last few years that offer stem cell treatments for neurodegenerative diseases, giving rise to what is known as “cellular tourism”. This phenomenon has set off alarms and reactions in the scientific community. The application of these therapies must be performed following the good clinical practice guidelines in research, evidence based methodology and international ethical and scientific recommendations (AU)

Serum levels of coenzyme Q10 in patients with amyotrophic lateral sclerosis.

To elucidate whether serum coenzyme Q10 levels are related with the risk for amyotrophic lateral sclerosis (ALS), we compared serum levels of coenzyme Q10 and the coenzyme Q10/cholesterol ratio, in 30 patients with ALS and 42 matched controls using a high performance liquid chromatography technique. The mean serum coenzyme Q10 levels and the coenzyme Q10/cholesterol ratio did not differ significantly between the 2 study groups. These values were not influenced by the clinical form (spinal vs. bulbar) of ALS, and they did not correlate with age, age at onset, and duration of the disease. These results suggest that serum coenzyme Q10 concentrations are unrelated with the risk for ALS.

Serum levels of beta-carotene, alpha-carotene, and vitamin A in patients with amyotrophic lateral sclerosis.

To elucidate whether serum alpha and beta-carotene and retinol levels are related with the risk for amyotrophic lateral sclerosis (ALS), we compared serum levels of alpha-carotene, beta-carotene, and retinol (vitamin A), measured by HPLC, in 40 patients with amyotrophic lateral sclerosis (ALS) and 87 matched controls using an isocratic high performance liquid chromatography technique. The mean serum alpha and beta-carotene, and retinol levels did not differ significantly between the 2 study groups. These values were not influenced by the clinical form (spinal vs bulbar) of ALS, and they did not correlate with age, age at onset, and duration of the disease. These results suggest that serum alpha and beta-carotene and retinol concentrations are unrelated with the risk for ALS.

Cerebrospinal fluid levels of alpha-tocopherol in amyotrophic lateral sclerosis.

We compared CSF and serum levels, and the CSF/serum ratio of alpha-tocopherol (vitamin E), measured by HPLC, in 30 patients with sporadic amyotrophic lateral sclerosis (SALS) and 78 matched controls. The mean CSF and serum vitamin E levels did not differ significantly between the 2 study groups. These values were not influenced by the clinical form (spinal versus bulbar) of SALS. CSF alpha-tocopherol levels did not correlate with age, age at onset, and duration of the disease. These results suggest that CSF and serum alpha-tocopherol concentrations are unrelated with the risk for ALS.