Susana Pinto

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Amyotrophic lateral sclerosis (ALS) is a genetically heterogeneous neurodegenerative syndrome hallmarked by adult-onset loss of motor neurons. We performed exome sequencing of 252 familial ALS (fALS) and 827 control individuals. Gene-based rare variant analysis identified an exome-wide significant enrichment of eight loss-of-function (LoF) mutations in TBK1(More)
OBJECTIVE Subthalamic nucleus deep brain stimulation (STN-DBS) is an effective treatment for advanced Parkinson disease (PD). Following STN-DBS, speech intelligibility can deteriorate, limiting its beneficial effect. Here we prospectively examined the short- and long-term speech response to STN-DBS in a consecutive series of patients to identify clinical(More)
OBJECTIVE To determine the prevalence of and independent factors associated with joint involvement in a large population of patients with systemic sclerosis (SSc). METHODS This study was cross-sectional, based on data collected on patients included in the European League Against Rheumatism (EULAR) Scleroderma Trials and Research (EUSTAR) registry. We(More)
BACKGROUND The GGGGCC-repeat expansion in C9orf72 is the most frequent mutation found in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Most of the studies on C9orf72 have relied on repeat-primed PCR (RP-PCR) methods for detection of the expansions. To investigate the inherent limitations of this technique, we compared(More)
The aim of our study was to evaluate feasibility and accuracy of colour-coded duplex US in the detection of renal artery stenosis before and after stenting. Eighty-four patients (23 women, 61 men; mean age 64 years) with significant renal artery stenosis were studied with Doppler US, before and after stenting. A combined anterior and translumbar approach(More)
Kawasaki disease (KD) is an acute, self-limiting, idiopathic form of vasculitis. The preventive effect of early therapy on coronary artery aneurysms, the hallmark of the disease, is well established. The spectrum of complication includes not only cardiac involvement but also central nervous system lesions. We report a 4-year-old boy with a clinical(More)
OBJECTIVE Respiratory function tests are used to detect early signs of hypoventilation in amyotrophic lateral sclerosis (ALS). However, there are few studies of the predictive value of these tests in detecting hypoventilation. METHODS We included 199 ALS patients. ALS was bulbar-onset in 68 and spinal-onset in 131. Twenty-four had hypercapnia (pCO(2)>45(More)
Machado-Joseph disease (MJD) is a spinocerebellar degeneration with a wide phenotypic presentation. A 64-y-old male with a history of gait disability and fasciculations was referred to our unit with the diagnosis of motor neuron disease (MND), which was supported by the presence of upper motor neuron signs and diffuse loss of motor units on(More)
Our objective is to describe the results of a phase II/III, 12-months, double-blinded, single-centre, randomized, parallel (1:1), clinical trial performed to evaluate the efficacy and safety of memantine in ALS. Patients with probable or definite ALS of less than 36 months disease duration and progression over a one-month lead-in period were randomly(More)
BACKGROUND Non-invasive ventilation (NIV) is an efficient method for treating respiratory failure in patients with amyotrophic lateral sclerosis (ALS). However, it requires a process of adaptation not always achieved due to poor compliance. The role of telemonitoring of NIV is not yet established. OBJECTIVES To test the advantage of using modem(More)