Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands.

BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late-onset myopathy characterized by ptosis, dysphagia, and progressive proximal limb muscle weakness. The disease is produced by a short expansion of the (GCN)n triplet in the PABPN1 gene. The size of expansion has been correlated to the disease onset and severity. We report the clinical features of a large cohort of OPMD patients harboring the (GCN)15 allele from the Canary Islands. METHODS: A retrospective observational study was performed analyzing the clinical, demographic, and genetic data of 123 OPMD patients. Clinical data from this cohort were compared with clinical data collected in a large European study including 139 OPMD patients. RESULTS: A total of 113 patients (94.2%) carried the (GCN)15 expanded PABN1 allele. Age of symptoms' onset was 45.1 years. The most frequent symptom at onset was ptosis (85.2%) followed by dysphagia (12%). The severity of the disease was milder in the Canary cohort compared to European patients as limb weakness (35.1% vs. 50.4%), the proportion of patients that require assistance for walking or use a wheelchair (9.3% vs. 27.4%), and needed of surgery because of severe dysphagia (4.6% vs. 22.8%) was higher in the European cohort. CONCLUSIONS: Nearly 95% of patients with OPMD from the Canary Islands harbored the (GCN)15 expanded allele supporting a potential founder effect. Disease progression seemed to be milder in the (GCN)15 OPMD Canary cohort than in other cohorts with shorter expansions suggesting that other factors, apart from the expansion size, could be involved in the progression of the disease.

Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease. / Registro español de la enfermedad de Pompe: análisis de los primeros 49 pacientes con enfermedad de Pompe del adulto.

INTRODUCTION AND OBJECTIVES: Pompe disease is a rare autosomal recessive disorder produced by a deficiency of acid maltase. This deficit produces an accumulation of glycogen in tissues. Clinically it is mainly characterized by limb girdle and respiratory muscle weakness. In 2013, we developed the Spanish Pompe Registry. The objective of this article was to analyse the characteristics of the first 49 patients and disclose the existence of this registry within the medical community. MATERIAL AND METHODS: An observational retrospective study was undertaken. We analysed the 49 patients included in the Spanish Registry of Pompe Disease from May 2013 to October 2018. RESULTS: Patients were visited at 7 different Spanish hospitals. Twenty-six patients were women and 23 were men. The average age at the time of the analysis was 47.2 years. Ten patients were asymptomatic. The mean age of onset of symptoms was 29, and low limb girdle weakness was the most frequent initial symptom. Of the patients, 49% had respiratory involvement, and 70.8% of them required non-invasive mechanical ventilation. The most common mutation found was IVS1-13T>G in 85.3% of the patients. All symptomatic patients received treatment with ERT. CONCLUSIONS: This registry allows us to know the clinical and genetic characteristics of adult patients with Pompe disease in Spain. Moreover, it can be the basis for future studies of natural history to understand the impact of ERT in the course of the disease.

Plexopatía braquial secundaria a tumor maligno de la vaina del nervio periférico / Brachial plexopathy secondary a malignant tumor of the peripheral nerve sheath

Introducción: el plexo braquial puede verse afectado por patología neoplásica tanto primaria como secundaria. Los tumores primarios del plexo braquial son entidades poco frecuentes, aunque algunos, como el tumor maligno de la vaina del nervio periférico pueden tener un comportamiento agresivo. Caso clínico: se presenta una mujer de 31 años con disestesias y debilidad progresiva en el miembro superior izquierdo. El estudio neurofisiológico mostró afectación del plexo braquial izquierdo. En la resonancia magnética se observó una masa de tejido blando que invadía el plexo braquial. El estudio histológico fue compatible con un tumor maligno de la vaina del nervio periférico. Conclusiones: el tumor maligno de la vaina del nervio periférico es un tumor altamente agresivo que puede aparecer en pacientes sin datos clínicos de neurofibromatosis tipo 1. Debe mantenerse un elevado nivel de sospecha con el objetivo de no retrasar el diagnóstico para así poder realizar un tratamiento lo más conservador posible.

Introduction. Malignant peripheral nerve sheath tumor (MPNST) are sarcomas that are rarely located in the upper limb. Clinical case. We present a 31- year-old woman with progressive dysesthesia and weakness of the left upper limb. The neurophysiological study showed damage in the left brachial plexus. A soft tissue mass that was invading the plexus was observed in the magnetic resonance image. The anatomopathological study was compatible with MPNST diagnosis. Conclusions. Intrinsic tumors of the brachial plexus are uncommon. A MPNST is an extremely aggressive mesenchymal tumor that is seldom rooted in the brachial plexus.

[Risk factors, etiology and prognosis in patients older than 80 years old with ischemic stroke]. / Factores de riesgo, etiología y pronóstico en pacientes mayores de 80 años con accidente cerebrovascular.

INTRODUCTION: The aim of this study was to analyze differences between patients aged 80 years or less and those aged more than 80 years old a hospital series of ischemic stroke. MATERIAL AND METHODS: We performed a retrospective review of all patients with ischemic stroke or transient ischemic attack requiring admission to the Neurology Service of the Dr. Negrín University Hospital of Gran Canaria (Spain) between January 1, 2004 and December 31, 2006. Data were gathered on hypertension, diabetes mellitus (DM), hyperlipidemia, ischemic cardiopathy (IC), atrial fibrillation (AF), the Trial of Org 10172 in Acute Stroke Treatment (TOAST) classification, as well as the National Institutes of Health (NIH) scale and the modified Rankin scale (mRS) at discharge. RESULTS: A total of 850 patients were included. Age was >80 years in 106 (12.4%) and was <80 years in 744 (87.6%). In the group aged>80 years, 43.4% were men and 56.6% were women (64.1% men and 35.9% women in the group aged<80 years). Hypertension was present in 81.1% of patients aged>80 years (68.1% in those aged<80 years); previous DM was found in 29.2% (39.3% in the group aged<80 years); hyperlipidemia was present in 26.4% (40.2% in the group aged<80); IC was found in 16.9% (15.8% in the group aged<80); AF was found in 40% (20.9% in the group aged<80 years). In the group of patients aged>80 years, 23.6% had atherothrombotic stroke (19.3% in those aged<80 years); 38.7% were cardioembolic (19.3% in the group aged<80 years); 10.4% were lacunar (22.6% in the group aged<80 years); and 24.5% was of undetermined origin (28.6% in the group aged<80 years). The mRS at discharge was 80 years. CONCLUSIONS: Ischemic stroke in patients over 80 years old leads to certain differences in relation to risk factors, stroke etiology and stroke severity.