Triple therapy with deferiprone, idebenone and riboflavin in Friedreich's ataxia - open-label trial.

OBJECTIVES: The objective of the study was to test the efficacy, safety and tolerability of triple therapy with deferiprone, idebenone and riboflavin in Friedreich's ataxia (FRDA) patients in a clinical pilot study. PATIENTS AND METHODS: Patients included in this study were 10 males and three females, 14-61 years of age (average 30.2 ± 12.1), diagnosed with FRDA with normal ventricular function. Patients were treated with triple therapy with deferiprone at 5-25 mg/kg/day, idebenone at 10-20 mg/kg/day and riboflavin at 10-15 mg/kg/day for 15-45 months. The efficacy of this triple therapy was assessed by change from baseline on the scale for the assessment and rating of ataxia (SARA) and by the change from baseline in echocardiogram parameters. RESULTS: Four patients discontinued due to adverse events (AEs) related with deferiprone. The annual worsening rate (AWR) was estimated in this series as 0.96 (CI 95%: 0.462-1.608) SARA score, whereas AWR for our FRDA cohort was estimated as 2.05 ± 1.23 SARA score. LVMI only decreased by 6.5 g/m(2) (6.2%) at the end of the first year of therapy. LVEF remained stable, except in case of three patients. CONCLUSION: Our results seem to indicate some uncertain benefit on the neurological and heart functions of this triple therapy in FRDA.

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.

Outcome of patients with amyotrophic lateral sclerosis attending in a multidisciplinary care unit.

INTRODUCTION: Amyotrophic lateral sclerosis (ALS) is a disease with very poor prognosis, and a mortality of 50% at 18 months after diagnosis. Multidisciplinary units attempt to improve the quality of life and survival of patients with ALS. The aim of this study is to evaluate every 3 months, over a 24-month period, the outcome of patients treated at the ALS unit since the time of diagnosis. MATERIAL AND METHODS: We performed a prospective observational study of patients treated in the ALS unit following a clinical pathway since the time of diagnosis with quarterly reviews from 2006 to 2010. The age of onset, functional impairment (ALSFRS-r), impairment of respiratory function, dysphagia and signs of depression and/or cognitive impairment were evaluated in relation to the initial location symptoms (bulbar [B], upper limbs [UL], lower limbs [LL]). RESULTS: A total of 42 patients (30 males and 12 females) were evaluated (mean age at onset of 57.97 years old, SD 14.56). There was an even distribution by location of onset of symptoms (B 14 patients, UL 14, LL 14.) Functional impairment (B -26,89 points, UL -22,48 points, LL -22,66 points), the need for use of BIPAP (B 64.28%; UL 35.71%; LL 50%), the presence of dysphagia (B 85.71; UL 42.85; LL 71.42%), signs of depression (B 78.57%; UL 35.71%; LL 64.28%) and cognitive impairment (B 42.85%; UL 21.42; LL 35.71%) was higher at 24 months of progression in patients with bulbar onset. There was no difference in mortality data (23.80% overall). CONCLUSIONS: The treatment in multidisciplinary units does not change the neurological progression of the disease, but increases the survival of ALS patients regardless of their initial onset, emphasising the use of multidisciplinary care.

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.

[Benign intracranial hypertension. History, clinical features and treatment in a series of 41 patients]. / Hipertensión intracraneal benigna. Antecedentes, clínica y tratamiento en una serie de 41 pacientes.

INTRODUCTION: Benign intracranial hypertension (BIH) is a syndrome characterized by the abnormal elevation of the intracranial pressure with a normal composition of the cerebrospinal fluid (CSF) and in absence of ventriculomegaly or some intracranial expansive lesion. AIM: The present work seeks, by means of the analysis of diagnosed BIH patients to evaluate its epidemic, clinical and therapeutic features. PATIENTS AND METHODS: 87 histories from intracranial hypertension diagnosed patients with normal cerebral CT were reviewed, between 1999 and 2002. 41 BIH patients were selected. RESULTS: The reached results allow us to draw the following profile, a woman (> 70%) of between 21 and 30 years (29%), smoker, obese (59%) with an recent increase of weight (37%) that consults after spending more than three months with headache (89%), alterations of the visual acuity (> 50%) and nauseas with some vomiting (> 40%). In the exploration, it presents with bilateral papilledema (100%), a CSF pressure bigger than 20 cmH2O (40,78 15,55 cmH2O) with normal composition, without alterations in the neuroradiological study results. CONCLUSION: The treatment with acetazolamide was favourable (51,2%), being definitive (70%) the lumbar peritoneal shunt when it is specified (30,7%), being improved these figures in those patients with a smaller pressure of the CSF in the moment of the diagnosis (p<0,035).

[Development of a clinical pathway for the attention of patients with amyotrophic lateral sclerosis in a regional network. ALS Assistance Network-Comunidad de Madrid]. / Desarrollo de una vía clínica para la atención a pacientes con esclerosis lateral amiotrófica en un ámbito regional. Red de Atención de ELA-Comunidad de Madrid.

INTRODUCTION: Amyotrophic lateral sclerosis (ALS) requires complex multidisciplinary attention. Clinical pathways are assistance plans for certain diseases with a predictable course. These plans are established in isolated centers, not in multicenter regions. The aim is to develop a clinical pathway capable of organizing and homogenizing assistance given in ALS Assistance Network-Comunidad de Madrid which is made up of five hospitals, from the beginning until the end of the disease. METHODS: In successive meetings, neurologists of these hospitals and members of the Madrid Health Service evaluated published therapeutic guidelines and other documents used in ALS assistance. A clinical pathway was developed adapting this information to social-health care conditions in the Comunidad de Madrid following the FOCUS-PDCA model. RESULTS: A clinical pathway was created consisting of a scientist-technical framework which arranges the attention in relationship to the diagnosis and treatment, according to the degree of disease progression and a chronogram. This is accompanied by several patient information documents on the disease and the tests that are required, and a patient assistance evaluation form. The standards are established to reach and to promote 354 constant improvement in patient care. CONCLUSIONS: Clinical pathway for the ALS assistance in a regional network organizes the attention and cares that the patients must receive from the beginning to the end of the disease. This arrangement and homogenization of the attention improves the quality of patient care, diminishes variability and rationalizes the use of the health care resources.