Search

Abnormal cytoplasmic accumulation of fused in sarcoma (FUS) protein is the pathological hallmark of some cases of amyotrophic lateral sclerosis (ALS) with transactive response DNA‐binding protein of 43KDa (TDP‐43)‐negative pathology that lack SOD1 mutations. FUS is an RNA‐binding protein located predominantly in the nucleus and is involved in regulation of transcription, alternative splicing, RNA stability, microRNA biogenesis, apoptosis and cell division. FUS, Ewing's sarcoma (EWS) and TATA‐binding protein‐associated factor 15 (TAF15) proteins constitute the FET (FUS/EWS/TAF15) family, highly conserved and ubiquitously expressed RNA‐binding proteins that shuttle between nucleus and cytoplasm assisted by the nuclear import protein Transportin 1 (Trn1), This study was partially funded by Fundació Marató de TV3 (grant no. 20143810 to RSV, no. 20141610 to EG and no. 201437.10 to RRG) and Fondo Europeo de Desarrollo Regional (FEDER) (PI16/01673 to JG and PI15/01618 to RRG).

Objective: To describe the frequency and clinical characteristics of patients referred to a tertiary neuromuscular clinic as having amyotrophic lateral sclerosis (ALS) but who were re-diagnosed as having an ALS mimic syndrome, and to identify the reasons that led to the revision of the diagnosis. Methods: We reviewed the final diagnosis of all patients prospectively registered in the Sant Pau-MND register from 1 January 2004 to 31 December 2015. A detailed clinical evaluation and a clinically-guided electrophysiological study were performed at first evaluation. Results: Twenty of 314 (6.4%) patients included were re-diagnosed as having a condition other than ALS, in 18 cases already at first evaluation. An alternative specific diagnosis was identified in 17 of those 20, consisting of a wide range of conditions. The main finding leading to an alternative diagnosis was the result of the electrophysiological study. Fifty per cent did not fulfil the El Escorial revised criteria (EECr) for ALS. The most common clinical phenotype at onset in patients with ALS mimic syndromes was progressive muscular atrophy (PMA). Conclusions: Misdiagnosing ALS is still a common problem. Early identification of ALS mimic syndromes is possible based on atypical clinical features and a clinically-guided electrophysiological study. Patients should be attended in specialised centres. The application of EECr helps to identify ALS misdiagnoses. © 2017 World Federation of Neurology on behalf of the Research Group on Motor Neuron Diseases.

Background: We report a case of stroke due to stenosis caused by a myxoma in the common carotid artery with no evidence of a cardiac origin. Only 1 such case has been reported previously in the literature. Methods: A previously healthy 37-year-old woman presented with repeated episodes of acute focal deficits together with motor, sensory, and language symptoms typical of left internal carotid territory involvement. Brain magnetic resonance imaging showed acute and subacute ischemic lesions in the territory of the left middle cerebral artery and border zone infarcts (middle cerebral artery with anterior and posterior cerebral arteries). Magnetic resonance angiography showed a filling defect in the distal portion of the left common carotid artery causing stenosis over 70%. Transesophageal echocardiography showed no embolic sources. Blood tests ruled out a prothrombotic state. Results: The image was initially interpreted as a possible subacute thrombus and anticoagulation was started. No changes were observed in the follow-up carotid ultrasound examination after 12 days of treatment. A gelatinous mass was removed during carotid surgery. No subjacent lesion was observed in the vessel wall. Pathology examination showed a spindle cell fibromyxoid tissue with fibrinoid material typical of myxoma. Conclusions: We hypothesize that the myxoma originated in the vessel, or alternatively, that a cardiac myxoma embolized without leaving a residual cardiac tumor. Although exceptional, myxoma should be added to the list of unusual causes of carotid artery stenosis causing stroke. © 2015 by National Stroke Association.