Multiple-system atrophy

Fanciulli and Wenning's review (Jan. 15 issue) on multiple-system atrophy is comprehensive and up to date. In it, the authors state that the open-label administration of gabapentin could ameliorate cerebellar symptoms in single cases of this disease. However, the cited reference describes a noticeable improvement in gait in one patient who received a diagnosis of olivopontocerebellar atrophy (OPCA) after a single dose of 400 mg of gabapentin and alleviation of dysarthria and oscillopsia in another patient with OPCA during long-term therapy with gabapentin. These patients could not have received a diagnosis of multiple-system atrophy, since neither had features of autonomic dysfunction. In contrast, gabapentin was found to cause generalized weakness and to worsen gait and dysarthria in three patients with multiple-system atrophy, forcing withdrawal of the drug..

Episodic Vestibulocerebellar Ataxia Associated with a CACNA1G Missense Variant

Episodic vestibulocerebellar ataxias are rare diseases, frequently linked to mutations in different ion channels. Our objective in this work was to describe a kindred with episodic vestibular dysfunction and ataxia, associated with a novel CACNA1G variant. Two individuals from successive generations developed episodes of transient dizziness, gait unsteadiness, a sensation of fall triggered by head movements, headache, and cheek numbness. These were suppressed by carbamazepine (CBZ) administration in the proband, although acetazolamide and topiramate worsened instability, and amitriptyline and flunarizine did not prevent headache spells. On examination, the horizontal head impulse test (HIT) yielded saccadic responses bilaterally and was accompanied by cerebellar signs. Two additional family members were asymptomatic, with normal neurological examinations. Reduced vestibulo-ocular reflex gain values, overt and covert saccades were shown by video-assisted HIT in affected subjects. Hearing acuity was normal. Whole-exome sequencing demonstrated the heterozygous CACNA1G missense variant c.6958G>T (p.Gly2320Cys) in symptomatic individuals. It was absent in 1 unaffected member (not tested in the other asymptomatic individual) and should be considered likely pathogenic. CACNA1G encodes for the pore-forming, a1G subunit of the T-type voltage-gated calcium channel (VGCC), in which currents are transient owing to fast inactivation, and tiny, due to small conductance. Mutations in CACNA1G cause generalized absence epilepsy and adult-onset, dominantly inherited, spinocerebellar ataxia type 42. In this kindred, the aforementioned CACNA1G variant segregated with disease, which was consistent with episodic vestibulocerebellar ataxia. CBZ proved successful in bout prevention and provided symptomatic benefit in the proband, probably as a result of interaction of this drug with VGCC. Further studies are needed to fully determine the vestibular and neurological manifestations of this form of episodic vestibulocerebellar ataxia. This novel disease variant could be designated episodic vestibulocerebellar ataxia type 10. © 2021 The Author(s). Published by S. Karger AG, Basel

Comportamiento de tejas de diferente color (rojo y paja) frente al biodeterioro

La colonización biológica es un fenómeno que afecta de forma negativa a la durabilidad de los materiales de construcción. A nivel industrial se ha observado que las tejas de color paja muestran mayor tendencia a la colonización biológica que las tejas de coloración rojiza, incluso cuando ambas presentan características similares. El objetivo de este trabajo es determinar la causa de las diferencias de biocolonización entre tejas de diferente color. Para ello, se ha determinado la composición química de la superficie de tejas de color paja y de color rojo mediante WD-FRX, la composición mineralógica por DRX, la microestructura de la superficie mediante MEB-EDX, la distribución del tamaño de poros mediante porosimetría de mercurio, y la solubilidad (Ca, Mg, Na, K, Cl and SO 2- por ICP-OES y cromatografía iónica). Se ha evaluado la biorreceptividad midiendo la intensidad de fluorescencia con un fluorómetro, utilizando la cianobacteria Oscillatoria sp. Los resultados muestran una mayor concentración de calcio y azufre, y una mayor solubilidad de éstos, en la superficie de las tejas paja, y éstas presentan una mayor tendencia a la colonización. Por lo tanto, el hecho de que presenten sales solubles en superficie favorece la biocolonización, y con ello, el deterioro estético y funcional del tejado.Biocolonization of building materials is a critical problem for the durability of constructions. Industrial experience shows that straw coloured roofing tiles are more prone to colonization than red roofing tiles, even having similar characteristics. The aim of this work is to explain the difference of biocolonization between different colour roofing tiles. The chemical composition of the surface of straw coloured and red roofing tiles, the phase composition and the microstructure of the roofing tiles were determined by WD-XRF, XRD and SEM-EDX, respectively. The pore size distribution was carried out by Hg porosimetry. The solubility was studied by determining the soluble salts (Ca, Mg, Na, K, Cl and SO 2-) by ICP-OES and ionic chromatography. Roofing tile bioreceptivity was evaluated by determining fluorescence intensity using a pulse-amplitude-modulated (PAM) fluorometer, and cyanobacteria Oscillatoria sp. The results obtained show higher concentration of calcium and sulphur in straw coloured roofing tiles surface, and higher solubility than red roofing tiles. Moreover, according to the results obtained in bioreceptivity assays, straw coloured roofing tiles are more prone to colonization than red roofing tiles, so, there is a relationship between surface properties of roofing tiles and biocolonization, as it is observed in industrial products

Distonía mioclónica y ataxia cerebelosa en la autoinmunidad antiglutámico-descarboxilasa

Sr. Editor: El ácido γ-aminobutírico (GABA) es el principal neurotransmisor inhibidor en el sistema nervioso central. La autoinmunidad contra el enzima glutámico-decarboxilasa (GAD), clave en la síntesis de GABA a partir de ácido glutámico, inhibe selectivamente la neurotransmisión GABAérgica, causando cuadros neurológicos como síndrome de la persona rígida, encefalitis progresiva con rigidez y mioclonias, epilepsia y ataxia cerebelosa, y puede asociarse a neoplasias, síndromes poliglandulares autoinmunes, diabetes mellitus tipo 1 y tiroiditis autoinmune1, 2, 3. Se presenta un caso de distonía mioclónica con ataxia cerebelosa, asociado a autoinmunidad anti-GAD. El estudio fue aprobado por el Comité Local de Ética, con el consentimiento informado del paciente. Varón de 41 años, que hace 14 años presentó de forma aguda contractura en extensión de la extremidad superior derecha que duró varias semanas, y dejó como secuela movimientos involuntarios en la mano y postura en flexión de la muñeca, que se propagaron posteriormente a la extremidad superior izquierda. Se mantuvo estacionario hasta hace 2 años, cuando se produjo un empeoramiento progresivo a pesar de recibir tratamiento con baclofeno, tizanidina y oxcarbazepina, quedando incapacitado para escribir o manejar herramientas..

Ataxia and focal dystonia in Kallmann syndrome

A case of Kallmann syndrome (KS) associated with rare neurological manifestations is presented. Cerebellar ataxia probably caused by a small posterior fossa and a focal dystonia affecting the left lower limb expand the spectrum of neurological manifestations occurring in KS. Further studies are needed to better understand these manifestations

Une cause inhabituelle d’hyperCKémie

Les élévations du taux de créatine-phospho-kinase (CPK), ou hyperCKémies, constituent le lot quotidien de nombreux myologues. Leur grande diversité étiologique rend les choses difficiles en pratique clinique, plus encore lorsque l’hyperCKémie est isolée. Mis à part les élévations transitoires liées à certaines circonstances facilement identifiables (naissance, traumatisme, exercice musculaire extrême, exposition aux statines) ou certains facteurs ethniques, de nombreuses maladies neuromusculaires peuvent en être à l’origine. Il s’agit en premier lieu des dystrophies musculaires progressives et des myopathies métaboliques (glycogénoses surtout). Les progrès obtenus dans l’identification des causes des hyperCKémies ont sensiblement progressé ces dernières années grâce, notamment, à l’utilisation plus large du NGS. Dans l’observation ci-dessous, l’accent est mis sur une cause rare d’hyperCKémie pour laquelle un marqueur érythrocytaire simple permet d’évoquer le diagnostic

Waste management under a life cycle approach as a tool for a circular economy in the canned anchovy industry

The anchovy canning industry has high importance in the Cantabria Region (North Spain) from economic, social and touristic points of view. The Cantabrian canned anchovy is world-renowned owing to its handmade and traditional manufacture. The canning process generates huge amounts of several food wastes, whose suitable management can contribute to benefits for both the environment and the economy, closing the loop of the product life cycle. Life cycle assessment methodology was used in this work to assess the environmental performance of two waste management alternatives: Head and spine valorisation to produce fishmeal and fish oil; and anchovy meat valorisation to produce anchovy paste. Fuel oil production has been a hotspot of the valorisation of heads and spines, so several improvements should be applied. With respect to anchovy meat valorisation, the production of polypropylene and glass for packaging was the least environmentally friendly aspect of the process. Furthermore, the environmental characterisation of anchovy waste valorisation was compared with incineration and landfilling alternatives. In both cases, the valorisation management options were the best owing to the avoided burdens associated with the processes. Therefore, it is possible to contribute to the circular economy in the Cantabrian canned anchovy industry.The authors disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This work was supported by the Ministry of Economy and Competitiveness of Spanish Government through the project called GeSACConserva: Sustainable Management of the Cantabrian Anchovies [CTM2013-43539-R]

SOFIAS – Herramienta para el análisis de ciclo de vida y la calificación ambiental de edificios

This paper describes the development process of a new software tool, called SOFIAS (Software for a Sustainable Architecture), funded by the Spanish Ministry of Economy and Competitivenes. Following CEN/TC 350 standard on environmental assessment of buildings, the tool aims at assisting building professionals on reducing the life-cycle environmental impact through the design of new buildings and the refurbishment of existing ones. In addition, SOFIAS provides a rating system based on the Life Cycle Assessment (LCA) methodology. This paper explains the innovative aspects of this software, the working methodology and the different type of results that can be obtained using SOFIAS.SOFIAS (Ref. number IPT-2011-0948-380000) project co financed by the Spanish Ministry of Economy and Competitiveness

Hemorragia subaracnoidea de la convexidad cerebral causada por telangiectasia hereditaria hemorrágica

Sr. Editor: La hemorragia subaracnoidea de la convexidad cerebral (HSAc) se caracteriza por colecciones hemáticas en uno o varios surcos adyacentes, sin sangrado en el parénquima cerebral, cisura interhemisférica, cisternas basales o ventrículos1, 2, 3. Se ha asociado a múltiples etiologías como traumatismos, enfermedad aneurismática, oclusión de venas corticales, síndrome de leucoencefalopatía posterior reversible, síndrome de vasoconstricción cerebral reversible (SVCR), angiopatía amiloide cerebral (AAC), vasculitis primaria del sistema nervioso central, coagulopatías, consumo de cocaína o etanol, abscesos cerebrales, cavernomas o malformaciones arteriovenosas1, 2, 3, 4. A continuación presentamos un caso de HSAc como manifestación de telangiectasia hereditaria hemorrágica (THH). Varón de 47 años con antecedente de epistaxis repetidas desde la infancia e historia familiar de epistaxis en la madre, tío y abuelo maternos, quienes requirieron cauterización de telangiectasias en la cavidad nasal. Refería una cefalea opresiva frontal izquierda, de intensidad y frecuencia crecientes (hasta hacerse diaria) en los últimos 5 meses. Esta aumentaba con la maniobra de Valsalva, asociando vértigo y vómitos, ..

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, occasional oculomotor apraxia and elevated alpha-feto-protein (AFP) serum level. We compiled a series of 67 previously reported and 58 novel ataxic patients who underwent senataxin gene sequencing because of suspected AOA2. An AOA2 diagnosis was established for 90 patients, originating from 15 countries worldwide, and 25 new senataxin gene mutations were found. In patients with AOA2, median AFP serum level was 31.0 mu g/l at diagnosis, which was higher than the median AFP level of AOA2 negative patients: 13.8 mu g/l, P = 0.0004; itself higher than the normal level (3.4 mu g/l, range from 0.5 to 17.2 mu g/l) because elevated AFP was one of the possible selection criteria. Polyneuropathy was found in 97.5% of AOA2 patients, cerebellar atrophy in 96%, occasional oculomotor apraxia in 51%, pyramidal signs in 20.5%, head tremor in 14%, dystonia in 13.5%, strabismus in 12.3% and chorea in 9.5%. No patient was lacking both peripheral neuropathy and cerebellar atrophy. The age at onset and presence of occasional oculomotor apraxia were negatively correlated to the progression rate of the disease (P = 0.03 and P = 0.009, respectively), whereas strabismus was positively correlated to the progression rate (P = 0.03). An increased AFP level as well as cerebellar atrophy seem to be stable in the course of the disease and to occur mostly at or before the onset of the disease. One of the two patients with a normal AFP level at diagnosis had high AFP levels 4 years later, while the other had borderline levels. The probability of missing AOA2 diagnosis, in case of sequencing senataxin gene only in non-Friedreich ataxia non-ataxia-telangiectasia ataxic patients with AFP level >= 7 mu g/l, is 0.23% and the probability for a non-Friedreich ataxia non-ataxia-telangiectasia ataxic patient to be affected with AOA2 with AFP levels >= 7 mu g/l is 46%. Therefore, selection of patients with an AFP level above 7 mu g/l for senataxin gene sequencing is a good strategy for AOA2 diagnosis. Pyramidal signs and dystonia were more frequent and disease was less severe with missense mutations in the helicase domain of senataxin gene than with missense mutations out of helicase domain and deletion and nonsense mutations (P = 0.001, P = 0.008 and P = 0.01, respectively). The lack of pyramidal signs in most patients may be explained by masking due to severe motor neuropathy