RESUMO
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.
Assuntos
Ataxia Cerebelar , Paraplegia Espástica Hereditária , Masculino , Humanos , Feminino , Pessoa de Meia-Idade , Paraplegia Espástica Hereditária/epidemiologia , Paraplegia Espástica Hereditária/genética , Estudos Transversais , Estudos Retrospectivos , Espanha/epidemiologiaRESUMO
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.
Assuntos
Hospitais , Neurologia/tendências , Acidente Vascular Cerebral/terapia , Feminino , Humanos , MasculinoAssuntos
Hospitais , Neurologia/tendências , Acidente Vascular Cerebral/terapia , Feminino , Humanos , MasculinoRESUMO
OBJECTIVE: To review a serie of patients with cryptococcal meningitis and immunodeficiency syndrome (AIDS) treated in our hospital in the last two years. PATIENTS AND METHODS: Retrospective study of 25 patients infected with the human immunodeficiency virus (HIV) and affected by Cryptococcus neoformans meningitis. The factors analysed were epidemiological data, clinical manifestations, biochemical and microbiological characteristics of cerebrospinal fluid (CSF), radiological abnormalities, treatment, adverse reactions and outcomes. RESULTS: Eighty-four percent of patients had less than 200 CD4/microliter. Cryptococcal infection was the AIDS defining illness in 24% of cases. Patients typically presented with neurologic symptoms such as: headache (88%), fever (68%) and somnolence (68%); 20% presented seizures and 28% focal deficits. There were no CSF biochemical alterations in 25% of them. CSF culture and indian ink stain were positive in 76%. CSF cryptococcal antigen test was positive in 68% of the cases. TC showed abnormalities in 48%. CSF of all patients treated with amphotericin B (AB) plus flucytosine (5FC) whose CSF culture was monitored became negative in the first two weeks, meanwhile those treated only with AB or fluconazol had negative control culture in 60% and 50% respectively. Six patients died within the initial 10 weeks. Death was due to bacterian sepsis in 3 patients and high intracranial pressure was the cause in 2 cases. One happened before treatment was administered. CONCLUSIONS: It's essential to consider the possibility of cryptococcal meningitis in patients infected with HIV and any compatible symptom regardless of CSF biochemical results and immunodepression level (CD4). Although our study was non randomized and so we can't propose a therapeutical schedule based on it, we can say that patients treated with AB plus 5FC showed an earlier conversion from positive to negative CSF cultures without more adverse reactions.