Spatiotemporal and kinematic aspects of obstacle avoidance in subjects with Down syndrome.
Authors: Vimercati SL, Galli M, Rigoldi C, Ancillao A, Albertini G Abstract Obstacle avoidance studies have been extensively performed in normally developed subjects (N), but little work has been done on the characterization of this task in subjects with Down syndrome (DS). The aim of this study was to describe the management of walking with obstacle avoidance in adults with DS and in age-matched N subjects, considering both the lower and upper limbs. Ten subjects with DS and 16 N subjects were evaluated. The subjects walked along a walkway in two conditions: level, unobstructed walking and walking with an...
Source: Functional Neurology - December 2, 2014 Category: Neurology Tags: Funct Neurol Source Type: research

White matter integrity assessed by diffusion tensor tractography in a patient with a large tumor mass but minimal clinical and neuropsychological deficits.
Authors: Bozzali M, MacPherson SE, Cercignani M, Crum WR, Shallice T, Rees JH Abstract Diffusion tensor imaging (DTI) tractography and image registration were used to investigate a patient with a massive left-sided brain tumor, whose size was largely disproportionate to his subtle neurological deficits. MRI was obtained from the patient and his healthy identical twin, who acted as anatomical reference for DTI and as a control for quantitative measures. To compensate for the patient's altered anatomy, seed and way points for probabilistic tractography were drawn on the color-coded direction maps of the heal...
Source: Functional Neurology - December 2, 2014 Category: Neurology Tags: Funct Neurol Source Type: research

Considerations on a mutation in the NOTCH3 gene sparing a cysteine residue: a rare polymorphism rather than a CADASIL variant.
We describe a 49-year-old woman with a CADASIL-like phenotype, carrying a novel cysteine-sparing mutation in exon 29 of the NOTCH3 gene, and discuss the possible pathogenetic role of this molecular variant. Even though atypical clinical and MRI findings make a diagnosis of CADASIL unlikely in this patient, our report nevertheless underlines the intriguing genotype-phenotype relationship in NOTCH3 mutations and the importance of functional investigation to ascertain the role of new NOTCH3 mutations in CADASIL pathogenesis. PMID: 23597439 [PubMed - indexed for MEDLINE] (Source: Functional Neurology)
Source: Functional Neurology - December 2, 2014 Category: Neurology Tags: Funct Neurol Source Type: research

New trends in pain research: from basic research to clinical translation.
Authors: Berliocchi L, Maiarù M, Scuteri D, Corasaniti MT, Bagetta G PMID: 23597440 [PubMed - indexed for MEDLINE] (Source: Functional Neurology)
Source: Functional Neurology - December 2, 2014 Category: Neurology Tags: Funct Neurol Source Type: research

From bench to bedside: the importance for neurodegenerative disorders of crosstalk between basic and clinical research.
Authors: Blandini F PMID: 23731909 [PubMed - indexed for MEDLINE] (Source: Functional Neurology)
Source: Functional Neurology - December 2, 2014 Category: Neurology Tags: Funct Neurol Source Type: research

The effectiveness of habit reversal therapy in the treatment of Tourette syndrome and other chronic tic disorders: a systematic review.
Authors: Dutta N, Cavanna AE Abstract Tourette syndrome (TS) is a neurodevelopmental disorder characterized by multiple tics, which can require active intervention. It is recognized that behavioral techniques, especially habit reversal therapy (HRT), can offer an effective alternative or complement to pharmacotherapy in this setting. We conducted a systematic literature review to evaluate the efficacy of HRT in TS and other chronic tic disorders (CTDs). Our search was restricted to randomized controlled trials that used standardized diagnostic and outcome measures to compare the efficacy of HRT against a c...
Source: Functional Neurology - December 2, 2014 Category: Neurology Tags: Funct Neurol Source Type: research

The effect of dopamine agonists on cognitive functions in non-demented early-mild Parkinson's disease patients.
Authors: Brusa L, Pavino V, Massimetti MC, Bove R, Iani C, Stanzione P Abstract The effect of dopamine agonists (DAs) on cognition in Parkinson's disease (PD) is not yet completely established. Previous papers reported a worsening effect on some cognitive functions with some DAs, but not with others, suggesting that DAs may differently affect cognition in PD patients according to their pharmacological characteristics. We set out to test the effect of rotigotine and cabergoline on cognitive functions in a group of forty non-demented early-mild PD patients (H &Y <2). Subjects were randomly divided int...
Source: Functional Neurology - December 2, 2014 Category: Neurology Tags: Funct Neurol Source Type: research

Whole-brain voxel-based morphometry study of children and adolescents with Down syndrome.
This study is the first to use the high-resolution MRI VBM method to describe a whole-brain pattern of abnormalities in young DS patients falling within such a narrow age range and it provides new information on the neuroanatomically specific regional changes that occur during development in these patients. PMID: 23731912 [PubMed - indexed for MEDLINE] (Source: Functional Neurology)
Source: Functional Neurology - December 2, 2014 Category: Neurology Tags: Funct Neurol Source Type: research

Evaluation of autonomies in the severely brain injured: the Progression of Autonomies Scale.
Authors: Arcuri F, Lucca LF, Rosadini V, Mercurio G, Mazzucchi A Abstract The aim of this study was to validate the Progression of Autonomies Scale (PAS) for the evaluation of autonomies in severe acquired brain injury patients. The PAS design is based on a model of progressive recovery of autonomies and is organized in three domains (Personal, Domestic and Extra-domestic). Scores assigned range from zero to three. The PAS items gather information about the patient's perception and awareness of his/her disability(ies) on admission and perception of his/her improvement at the end of a rehabilitation process...
Source: Functional Neurology - December 2, 2014 Category: Neurology Tags: Funct Neurol Source Type: research

Comparison of active standing test, head-up tilt test and 24-h ambulatory heart rate and blood pressure monitoring in diagnosing postural tachycardia.
Authors: Kirbiš M, Grad A, Meglič B, Bajrović FF Abstract Protocols for the assessment of postural tachycardia differ in both type of orthostatic challenge and test duration. We therefore compared heart rate (HR) and blood pressure responses during an active standing test (AST) and a head-up tilt test (HUT) in 34 patients with orthostatic intolerance and 31 asymptomatic subjects. A subset also performed 24-h ambulatory blood pressure monitoring (ABPM). HR responses were similar between AST and HUT both in asymptomatic and in orthostatic intolerant subjects. Specificity of HR increase ≥30 bpm for ortho...
Source: Functional Neurology - December 2, 2014 Category: Neurology Tags: Funct Neurol Source Type: research

Sleep in ring chromosome 20 syndrome: a peculiar electroencephalographic pattern.
Authors: Zambrelli E, Vignoli A, Nobili L, Didato G, Mastrangelo M, Turner K, Canevini MP Abstract Ring chromosome 20 [r(20)] syndrome is a chromosomal disorder characterized by epilepsy and intellectual disability. Distinctive electroclinical features and wakefulness EEG patterns have been described. The EEG features of sleep have not yet been evaluated. We studied the pattern of sleep in six patients aged 2-59 years who underwent at least one polysomnographic recording. Their sleep pattern evolution is described as deterioration ranging from normal to destructured NREM/REM sleep. NREM sleep alterations w...
Source: Functional Neurology - December 2, 2014 Category: Neurology Tags: Funct Neurol Source Type: research

Atypical language lateralization: an fMRI study in patients with cerebral lesions.
Authors: Fakhri M, Oghabian MA, Vedaei F, Zandieh A, Masoom N, Sharifi G, Ghodsi M, Firouznia K Abstract Differences in the lateralization of language processes between healthy subjects and patients with neurological complaints other than epilepsy have been less documented than those between healthy subjects and epilepsy patients. Moreover, the contribution of factors such as the location and type of lesion in determining interhemispheric shift of language function is poorly understood. Sixty-seven patients who underwent presurgical evaluations at the Medical Imaging Center of the Imam Khomeini University ...
Source: Functional Neurology - December 2, 2014 Category: Neurology Tags: Funct Neurol Source Type: research

Two cases of cluster headache effectively treated with levetiracetam.
Authors: Palermo A, Giglia G, Cosentino G, Raieli V, Brighina F, Fierro B PMID: 23731917 [PubMed - indexed for MEDLINE] (Source: Functional Neurology)
Source: Functional Neurology - December 2, 2014 Category: Neurology Tags: Funct Neurol Source Type: research

Imaging multiple sclerosis outside the brain.
Authors: Miller DH PMID: 24125555 [PubMed - indexed for MEDLINE] (Source: Functional Neurology)
Source: Functional Neurology - December 2, 2014 Category: Neurology Tags: Funct Neurol Source Type: research

Differences between conventional and nonconventional MRI techniques in Parkinson's disease.
Authors: Baglieri A, Marino MA, Morabito R, Di Lorenzo G, Bramanti P, Marino S Abstract Magnetic resonance imaging (MRI) provides an in vivo assessment of cortical and subcortical regions affected in Parkinson's disease (PD). This review summarizes the most important conventional and non-conventional MRI techniques applied in this field. Standard neuroimaging techniques have played a marginal role in the diagnosis and follow-up of PD, essentially being used only to discriminate atypical syndromes from PD, to exclude secondary causes such as vascular lesions, and to confirm the absence of specific imaging f...
Source: Functional Neurology - December 2, 2014 Category: Neurology Tags: Funct Neurol Source Type: research