How to estimate body composition in Huntington's disease. A cross-sectional, observational study using multiple frequencies bioimpedance. / Cómo estimar la composición corporal en la enfermedad de Huntington. Estudio transversal y observacional con bioimpedancia de múltiples frecuencias.

INTRODUCTION: Huntington´s disease (HD) is a rare neurodegenerative disorder. Reliable information about nutritional status, especially body composition from individuals with HD is critical for clinical care and research. The ease of application and portability of multiple frequencies bioelectrical impedance analysis (mfBIA) make it an attractive tool for measuring body composition, but its accuracy in HD is unknown. AIM: To evaluate the accuracy of mfBIA vs. Dual X-ray absorptiometry (DEXA) in HD. PATIENTS AND METHODS: Cross-sectional, observational, and single-center study. HD severity was measured using motor subscale of the unified Huntington´s disease rating scale (m-UHDRS) and the total functional capacity (TFC). Body composition was measured in terms of fat-free mass (FFM), fat mass (FM), fat-free mass index (FFMI), and fat mass index (FMI). Using Bland-Altman plots, we analyzed reliability between DEXA and mfBIA using the Intraclass Correlation Coefficient with 95% confidence intervals (CI) and bias estimates for all. RESULTS: We included 16 patients with HD, 7 men, and 9 women, median age of 58.5 (32;68) years, TFC: 10 (3;13), and m-UHDRS: 31 (7;85). The reliability between mfBIA and DEXA were high for FFMI in men: 0.88 (95% CI 0.17-0.98), and women: 0.90 (95% CI 0.61- 0.98); for FMI, men: 0.97 (95% CI 0.83-0.99), and women: 0.91 (95% CI 0.68-0.98). Compared to DEXA, mfBIA slightly overestimated FFM, FM, FMI and FFMI in men and underestimated FFMI in women. CONCLUSIONS: mfBIA is an easy-to-use, safe, non-invasive, accurate method for measuring body composition and nutritional status in patients with mild-moderate HD.

TITLE: Cómo estimar la composición corporal en la enfermedad de Huntington. Estudio transversal y observacional con bioimpedancia de múltiples frecuencias.Introducción. La enfermedad de Huntington (EH) es un trastorno raro neurodegenerativo. La información fiable del estado nutricional, especialmente de la composición corporal, es crítica en clínica y en investigación. La facilidad de aplicación y portabilidad del análisis de la bioimpedancia de múltiples frecuencias (mfBIA) la convierten en una herramienta atractiva para medirla, pero se desconoce su precisión en la EH. Objetivo. Evaluar la precisión del mfBIA frente a la absorciometría dual de rayos X (DEXA) en la EH. Pacientes y métodos. Estudio transversal, observacional y unicéntrico. La EH se midió con la subescala motora de la escala unificada de valoración de la EH y con la capacidad funcional total. La composición corporal se valoró según la masa libre de grasa (MLG), la masa grasa (MG), el índice de masa libre de grasa (IMLG) y el índice de masa grasa (IMG). Se utilizó el coeficiente de correlación intraclase con intervalos de confianza al 95% y estimaciones de sesgo mediante gráficos de Bland-Altman. Resultados. Se incluyó a 16 pacientes, siete hombres y nueve mujeres, con edad media de 58,5 (32-68) años, capacidad funcional total de 10 (3-13) y escala unificada de valoración de la EH de 31 (7-85). La fiabilidad era alta entre el mfBIA y la DEXA para el IMLG en hombres, 0,88 (intervalo de confianza al 95%: 0,17-0,98), y mujeres, 0,9 (intervalo de confianza al 95%: 0,61-0,98); y para el IMG en hombres, 0,97 (intervalo de confianza al 95%: 0,83-0,99), y mujeres, 0,91 (intervalo de confianza al 95%: 0,68-0,98). El mfBIA sobreestimó ligeramente la MLG, la MG, el IMG y el IMLG en los hombres, pero subestimó el IMLG en las mujeres. Conclusiones. El mfBIA es un método fácil de usar, seguro, no invasivo y preciso para medir la composición corporal y el estado nutricional en pacientes con EH leve-moderada.

Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study.

INTRODUCTION: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019. PATIENTS AND METHODS: We conducted a cross-sectional, multicentre, retrospective, descriptive study of patients with ataxia and hereditary spastic paraplegia in Spain between March 2018 and December 2019. RESULTS: We gathered data from a total of 1933 patients from 11 autonomous communities, provided by 47 neurologists or geneticists. Mean (SD) age in our sample was 53.64 (20.51) years; 938 patients were men (48.5%) and 995 were women (51.5%). The genetic defect was unidentified in 920 patients (47.6%). A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary spastic paraplegia were estimated at 5.48 and 2.24 cases per 100 000 population, respectively. The most frequent type of dominant ataxia in our sample was SCA3, and the most frequent recessive ataxia was Friedreich ataxia. The most frequent type of dominant hereditary spastic paraplegia in our sample was SPG4, and the most frequent recessive type was SPG7. CONCLUSIONS: In our sample, the estimated prevalence of ataxia and hereditary spastic paraplegia was 7.73 cases per 100 000 population. This rate is similar to those reported for other countries. Genetic diagnosis was not available in 47.6% of cases. Despite these limitations, our study provides useful data for estimating the necessary healthcare resources for these patients, raising awareness of these diseases, determining the most frequent causal mutations for local screening programmes, and promoting the development of clinical trials.

Epidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study. / Mapa epidemiológico transversal de las ataxias y paraparesias espásticas hereditarias en España.

INTRODUCTION: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019. PATIENTS AND METHODS: We conducted a cross-sectional, multicentre, retrospective, descriptive study of patients with ataxia and hereditary spastic paraplegia in Spain between March 2018 and December 2019. RESULTS: We gathered data from a total of 1.809 patients from 11 autonomous communities, provided by 47 neurologists or geneticists. Mean (SD) age in our sample was 53.64 (20.51) years; 920 patients were men (50.8%) and 889 were women (49.2%). The genetic defect was unidentified in 920 patients (47.6%). A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary spastic paraplegia were estimated at 5.48 and 2.24 cases per 100 000 population, respectively. The most frequent type of dominant ataxia in our sample was SCA3, and the most frequent recessive ataxia was Friedreich ataxia. The most frequent type of dominant hereditary spastic paraplegia in our sample was SPG4, and the most frequent recessive type was SPG7. CONCLUSIONS: In our sample, the estimated prevalence of ataxia and hereditary spastic paraplegia was 7.73 cases per 100 000 population. This rate is similar to those reported for other countries. Genetic diagnosis was not available in 47.6% of cases. Despite these limitations, our study provides useful data for estimating the necessary healthcare resources for these patients, raising awareness of these diseases, determining the most frequent causal mutations for local screening programmes, and promoting the development of clinical trials.

Tuberous sclerosis associated with polycystic kidney disease: effects of rapamycin after renal transplantation.

Tuberous sclerosis is rarely associated with autosomal dominant polycystic kidney disease in the so-called tuberous sclerosis complex. This association leads to an increased frequency of end-stage renal disease. We present a patient suffering from both syndromes, who received a renal graft and anticalcineurinic drugs as immunosuppressive agents. Progressive titration of the drug was necessary in order to attain the effective doses due to the enzymatic induction caused by concomitant treatment with antiepileptic drugs. These high doses resulted in nephrotoxicity. Immunosuppressor treatment was switched to rapamycin, whereby an improvement in renal function and other signs of tuberous sclerosis and polycystic kidney disease was observed. This case report highlights both the efficacy and safety of rapamycin as an immunosuppressor treatment and its capacity for controlling other symptoms of these genetic-related disorders.

Neuroimagen funcional en el estudio de los parkinsonismos: PET y SPECT / Functional neuroimaging in the study of parkinsonisms: PET and SPECT

Introducción. Las técnicas de neuroimagen estructural convencional (TC, RM) tienen una utilidad limitada en el diagnóstico del paciente parkinsoniano. Por el contrario, las exploraciones de Medicina Nuclear (PET y SPECT) pueden ser herramientas útiles para la evaluación de estos pacientes, ya que permiten el estudio de aspectos neuroquímicos y funcionales. Objetivo. Revisar el papel de la neuroimagen funcional con PET Y SPECT en el estudio del sistema nigroestriatal y otras funciones cerebrales, con especial hincapié en el SPECT cerebral de transportadores de dopamina con I123-ioflupano, y su utilidad en el diagnóstico diferencial de la enfermedad de Parkinson y otros parkinsonismos. Conclusiones. El estudio de la función nigro-estriatal y de otros sistemas no dopaminérgicos es útil para el diagnóstico temprano de la enfermedad de Parkinson, incluso en fase promotora; para su diferenciación del temblor esencial, de otros parkinsonismos no degenerativos (psicógeno, farmacológico, vascular) y de parkinsonismos atípicos (atrofia multisistema, parálisis supranuclear progresiva, degeneración corticobasal); y para distinguir la enfermedad de Alzheimer de la demencia por cuerpos de Lewy. Otras pruebas y radiotrazadores, para diferentes moléculas-mecanismos que ocurren en la enfermedad de Parkinson y otros parkinsonismos, están en desarrollo y podrían servir tanto para afinar más en el diagnóstico como para comprender mejor los mecanismos moleculares subyacentes a estas enfermedades y desarrollar nuevas dianas terapéuticas (AU)

Introduction. Conventional structural neuroimaging techniques (CT, MRI) are of only limited use in the diagnosis of patients with parkinsonian disorders. In contrast, explorations using nuclear medicine tools (PET and SPECT) can be useful for appraising these patients, since they allow neurochemical and functional aspects to be studied. Aims. This work aims to review the role of functional neuroimaging with PET and SPECT in the study of the nigrostriatal system and other brain functions, with special emphasis on brain SPECT of dopamine transporters with i123-ioflupane and its usefulness in the differential diagnosis of Parkinson's disease and other parkinsonisms. Conclusions. The study of the nigrostriatal function and of other non-dopaminergic systems is useful for the early diagnosis of Parkinson's disease, even in the promoter stage; for differentiating it from essential tremor, from other non-degenerative parkinsonisms (psychogenic, pharmacological, vascular) and from atypical parkinsonisms (multiple system atrophy, progressive supranuclear palsy, corticobasal degeneration); and also for distinguishing Alzheimer's disease from dementia with Lewy bodies. Other tests and radiotracers, for different molecules-mechanisms that occur in Parkinson's disease and other parkinsonisms, are being developed and could be used both to fine-tune the diagnosis even more as well as to gain a better understanding of the molecular mechanisms underlying these diseases and develop new therapeutic targets (AU)

Dúplex transcraneal en la enfermedad moyamoya / No disponible

No disponible

[Effect of nutritional support on survival in patients with amyotrophic lateral sclerosis]. / Efecto del soporte nutricional sobre la supervivencia en pacientes con esclerosis lateral amiotrófica.

INTRODUCTION: Malnutrition affects morbidity and mortality of patients with ALS. The nutrition unit should evaluate these patients early and regularly providing the necessary steps in the evolution of the disease. METHODS: A retrospective cohort study in which we analyzed 46 patients diagnosed with ALS, 21 of them received nutritional therapy. We studied age, mode of onset, date of entry into a nutritional protocol, placement of PEG and survival. We performed a test of Breslow comparing patients who were at nutritional protocol with those not receiving nutritional support, and those who received early nutritional therapy with those with delayed nutrition. RESULTS: There was an increase in median survival for patients in nutritional therapy in bulbar ALS (452 vs 55 days) and in spinal ALS (1,798 vs 357 days) (p = 0.002). The median delay in the initiation of nutritional therapy in spinal ALS was 557 days while in bulbar ALS was 230 days. The survival in the spinal ALS of those who entered into nutritional protocol before the median survival was 325 days to 181 days (p = 0.09) while in bulbar ALS those who entered before had a median survival of 435 days to 177 days (p = 0.38). CONCLUSIONS: The entry of patients with ALS in a nutritional protocol increases survival. There is an advantage in the evolution of patients with early nutritional treatment.

Efecto del soporte nutricional sobre la supervivencia en pacientes con esclerosis lateral amiotrófica / Effect of nutritional support on survival in patients with amyotrophic lateral sclerosis

Introducción: La desnutrición influye en la morbimortalidad del paciente con ELA. La unidad de nutrición debe evaluar al paciente precoz y periódicamente ofreciendo las medidas necesarias en la evolución de la enfermedad. Métodos: Estudio retrospectivo de cohortes en el que se analizaron 46 pacientes con diagnóstico de ELA, de los cuáles 21 se encontraban en tratamiento nutricional. Se estudió la edad, forma de inicio de la enfermedad, fecha de entrada en protocolo nutricional, la colocación o no de PEG, y la supervivencia. Se realizó un test de Breslow comparando pacientes que estuvieron en protocolo nutricional respecto de aquellos que no recibieron terapia nutricional, y de aquellos que entraron antes en protocolo respecto de los que entraron después. Resultados: Existió un aumento en la mediana de super vivencia en los pacientes en tratamiento nutricional tanto en ELA bulbar (452 vs 55 días) como en ELA espinal(1.798 vs 357 días; p = 0,002). La mediana de retraso en el inicio de tratamiento nutricional en la ELA espinal fue de 557 días mientras que en la ELA bulbar fue de 230 días: en la ELA espinal los que entraron en protocolo nutricional antes de la mediana tuvieron una supervivencia de 325 días respecto a 181 días (p = 0,09); en la EL Abulbar los que entraron antes de la mediana tuvieron una supervivencia de 435 días respecto a 177 días (p = 0,38).Conclusiones: La entrada de los pacientes con ELA en un protocolo nutricional conlleva un aumento de la supervivencia. Existe una ventaja en la evolución en los pacientes que comienzan antes el tratamiento nutriciona (AU)

Introduction: Malnutrition affects morbidity and mortality of patients with ALS. The nutrition unit should evaluate these patients early and regularly providing the necessary steps in the evolution of the disease. Methods: A retrospective cohort study in which we analyzed 46 patients diagnosed with ALS, 21 of them received nutritional therapy. We studied age, mode of onset, date of entry into a nutritional protocol, placement of PEG and survival. We performed a test of Breslow c omparing patients who were at nutritional protocol with those not receiving nutritional support, and those who received early nutritional therapy with those with delayed nutrition. Results: There was an increase in median survival for patients in nutritional therapy in bulbar ALS (452 vs 55days) and in spinal ALS (1,798 vs 357 days) (p = 0.002).The median delay in the initiation of nutritional therapy in spinal ALS was 557 days while in bulbar ALS was 230 days. The survival in the spinal ALS of those who entered into nutritional protocol before the median survival was325 days to 181 days (p = 0.09) while in bulbar ALS those who entered before had a median survival of 435 days to177 days (p = 0.38).Conclusions: The entry of patients with ALS in a nutritional protocol increases survival. There is an advantage in the evolution of patients with early nutritional treatment (AU)

[Update on chorea]. / Actualización en coreas.

INTRODUCTION: Chorea is a brief, random, involuntary movement that can affect any muscle group and flows in an unpredictable manner from one part of the body to another. Choreic movements are present at rest, increase with distracting manoeuvres, can be partially suppressed and often disappear during sleep. The differential diagnosis of choreic syndromes is very wide and includes both genetic and acquired causes (cerebrovascular disease and space-occupying lesions, immune-based choreas, choreas caused by infection, toxic and metabolic encephalopathies, and choreas induced by pharmaceuticals). DEVELOPMENT: We review the phenomenology and pathophysiology of choreic movements, the most frequent causes, the diagnostic process and the most important recent findings in its treatment. CONCLUSIONS: Huntington's disease is the most frequent cause of hereditary chorea. In patients with a familial picture suggesting Huntington's disease, but with a negative genetic study, the chances of reaching a definitive diagnosis are, today, very low. Medication is the most frequent cause of acquired chorea. When dealing with a case of hemichorea, it is essential to rule out structural insult of the basal ganglia or their connections. Treatment of choreas must be aimed at correcting their cause if it is reversible, although the patient must always be given symptomatic treatment if the intensity and functional repercussions of the chorea require it. In cases of hereditary choreas, prevention could involve genetic counselling aimed at affected patients and their relatives.

Actualización en coreas / Update on chorea

Resumen. Introducción. La corea consiste en movimientos involuntarios, breves, aleatorios, que pueden afectar a cualquier grupo muscular, fluyendo de forma impredecible de una parte del cuerpo a otra. Los movimientos coreicos están presentes en reposo, aumentan con maniobras de distracción, se pueden suprimir parcialmente y con frecuencia desaparecen durante el sueño. El diagnóstico diferencial de los síndromes coreicos es muy amplio, incluyendo tanto cuadros de causa genética como formas adquiridas (enfermedad cerebrovascular y lesiones ocupantes de espacio, coreas de base inmune, coreas de causa infecciosa, encefalopatías tóxicas y metabólicas y coreas inducidas por fármacos). Desarrollo. Se revisa la fenomenología y la fisiopatología de los movimientos coreicos, las causas más frecuentes, el proceso diagnóstico y las principales novedades en su terapéutica. Conclusiones. La enfermedad de Huntington es la causa más frecuente de corea hereditaria. En los pacientes con un cuadro familiar sugestivo de enfermedad de Huntington, pero con un estudio genético negativo, la probabilidad de llegar a un diagnóstico definitivo es, a fecha de hoy, muy baja. Los fármacos son la causa más frecuente de corea adquirida. Ante un caso de hemicorea, es obligado descartar una lesión estructural de los ganglios basales o sus conexiones. El tratamiento de las coreas debe ir encaminado a corregir su causa en el caso de que ésta sea reversible, aunque siempre hay que ofrecer un tratamiento sintomático si la intensidad y la repercusión funcional de la corea así lo requieren. En las coreas hereditarias se podrá hacer prevención mediante el consejo genético dirigido a los pacientes afectados y sus familiares (AU)

Summary. Introduction. Chorea is a brief, random, involuntary movement that can affect any muscle group and flows in an unpredictable manner from one part of the body to another. Choreic movements are present at rest, increase with distracting manoeuvres, can be partially suppressed and often disappear during sleep. The differential diagnosis of choreic syndromes is very wide and includes both genetic and acquired causes (cerebrovascular disease and space-occupying lesions, immunebased choreas, choreas caused by infection, toxic and metabolic encephalopathies, and choreas induced by pharmaceuticals). Development. We review the phenomenology and pathophysiology of choreic movements, the most frequent causes, the diagnostic process and the most important recent findings in its treatment. Conclusions. Huntington’s disease is the most frequent cause of hereditary chorea. In patients with a familial picture suggesting Huntington’s disease, but with a negative genetic study, the chances of reaching a definitive diagnosis are, today, very low. Medication is the most frequent cause of acquired chorea. When dealing with a case of hemichorea, it is essential to rule out structural insult of the basal ganglia or their connections. Treatment of choreas must be aimed at correcting their cause if it is reversible, although the patient must always be given symptomatic treatment if the intensity and functional repercussions of the chorea require it. In cases of hereditary choreas, prevention could involve genetic counselling aimed at affected patients and their relatives (AU)