Clinical features and incidence trends of amyotrophic lateral sclerosis in Navarre, Spain, 2007-2018: a population-based study.

Objective: Amyotrophic Lateral Sclerosis (ALS) is a heterogeneous neurodegenerative disorder with a median survival of 3 years. The aim of our study is to analyze the incidence, age-related phenotype and clinical onset, geographical distribution, survival and diagnostic delay of ALS in Navarre. Methods: This is a population-based observational retrospective study, including all residents of Navarre (a northern Spanish region) from 2007 to 2018, who were followed until 30th September 2020. Results: We observed a global incidence 2.47/100,000 person-years, with an upward trend throughout the study, with the highest being in the age group of 70-74 years old. Point prevalence in December 2018 was 6.64/100,000 inhabitants (95%CI: 4.52-8.45). Upper limbs weakness onset was the most frequent in young people (<60 years), and bulbar, lower limbs weakness, generalized and respiratory associated with older age. Bulbar phenotype is the most frequent in women and in 80+ group. The median survival from clinical onset was 27.7 months (95%CI: 24.0-31.4), higher in spinal phenotype and younger onset age, and the diagnosis delay was 10.0 months (95%CI: 8.9-11.2) from clinical onset. Conclusions: We have observed a trend of increasing incidence in older people where the bulbar phenotype and female predominance.

Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron disease.

The PLEKHG5 gene encodes a protein that activates the nuclear factor kappa B (NFκB) signaling pathway. Mutations in this gene have been associated with distal spinal muscular atrophy IV and intermediate axonal neuropathy C, both with an autosomal recessive mode of inheritance. Two families with low motor neuron disease (LMND) caused by mutations in PLEKHG5 have been reported to date. We present a third LMND family, the first nonconsanguineous, due to two not previously reported PLEKHG5 mutations. Our results confirm and extend previous findings linking PLEKHG5 mutations to lower motor neuron diseases.

[Predictive factors of the response to treatment with onabotulinumtoxinA in refractory migraine]. / Factores predictores de respuesta al tratamiento con onabotulinumtoxina A en la migraña refractaria.

AIM: To identify the clinical features that predict a favourable response to onabotulinumtoxinA (OnabotA) treatment in patients with refractory migraine. PATIENTS AND METHODS: Retrospective analysis of patients with refractory migraine who underwent at least two pericranial injections of OnabotA between 2008 and 2012. Patients were divided into responders and non-responders. Some clinical features including unilateral location of headache, presence of pericranial muscle tension, type of pain (imploding or exploding), duration of migraine (less than or greater than 10 years) and medication overuse were compared between the two groups. RESULTS: 39 patients were included (35 women) with a mean age of 46 years. 18 patients (46.2%) showed a greater than 50% reduction in the number of headache days/month (responders). When analyzing the different features of migraine, we observed that all were equally prevalent in responders and non-responders (p > 0.05): unilateral location (66.7% vs 66.6% respectively), implosive pain (27.8% vs 38.1%), presence of pericranial muscle tension (33.3% vs 38.1%), duration of migraine more than 10 years (77.8% vs 69.2%) and presence of medication overuse (50% vs 81%). CONCLUSION: We failed to identify any clinical feature in our patients with refractory migraine that predicts a favourable response to OnabotA treatment.

TITLE: Factores predictores de respuesta al tratamiento con onabotulinumtoxina A en la migraña refractaria.Objetivo. Identificar las caracteristicas clinicas que predicen una respuesta favorable al tratamiento con onabotulinumtoxina A (OnabotA) en pacientes con migraña refractaria. Pacientes y metodos. Estudio retrospectivo de pacientes con migraña refractaria que recibieron al menos dos infiltraciones de OnabotA entre los años 2008 y 2012. Los pacientes fueron divididos en respondedores y no respondedores a OnabotA y se compararon entre ambos grupos, y de forma retrospectiva, una serie de caracteristicas clinicas consideradas predictoras de respuesta en estudios previos: localizacion unilateral de la cefalea, presencia de tension muscular pericraneal, tipo de dolor (implosivo, explosivo u ocular), tiempo de evolucion de la migraña (menor o mayor de 10 años) y abuso de medicacion analgesica. Resultados. Se incluyeron 39 pacientes (35 mujeres) con una edad media de 46 años. En 18 pacientes (46,2%) se observo una reduccion mayor del 50% en el numero de dias de cefalea/mes (pacientes respondedores). Al analizar las diferentes caracteristicas de la migraña, se observo que todas ellas fueron igualmente prevalentes en los pacientes respondedores y en los no respondedores (p > 0,05): localizacion unilateral (66,7% frente a 66,6%, respectivamente), dolor implosivo (27,8% frente a 38,1%), presencia de tension muscular pericraneal (33,3% frente a 38,1%), tiempo de evolucion de la migraña mayor de 10 años (77,8% frente a 69,2%) y presencia de abuso de medicacion analgesica (50% frente a 81%). Conclusion. En esta serie de pacientes no se ha identificado ningun rasgo clinico que permita predecir en pacientes con migraña refractaria una respuesta favorable al tratamiento con OnabotA.

Sound analysis of catathrenia: a vocal expiratory sound.

PURPOSE: Catathrenia (nocturnal groaning) is a rare and relatively little-understood parasomnia. The characteristics of the sound and the recordings are not similar in all the relevant research papers. Indeed, there is currently some discussion regarding whether or not this is a single entity. For some authors, catathrenia is a particular form of parasomnia; for others, it may be a variant of snoring or a respiratory problem. The goal is to establish whether or not catathrenia may be regarded as an expiratory vocal sound. An attempt was made to classify the origin of this sound according to its sound structure. METHODS: We present the sound analysis of two patients, a man and a woman, with clinically diagnosed catathrenia and we compared them with the analysis of snoring. We use the spectrogram and the oscillogram. We classified the sounds according to the Yanagihara criteria. RESULTS: The vocal nature of the sound was confirmed, and several significant differences to some snoring sounds were discovered. The analysis of the catathrenia samples demonstrated that these signals are type II according to Yanagihara classification; these signals had a very short jitter, and had formants and harmonics. However, snoring is a type III, very irregular and had formants but not harmonics. CONCLUSIONS: The oscillogram and the spectrogram in these patients show that the origins of the sounds are clearly different: catathrenia is laryngeal, while snoring is guttural. Catathrenia cannot be considered as expiratory snoring.