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The distinction between Alzheimer's disease (AD) and Primary Age-Related Tauopathy (PART) is a hotly debated issue. As most lines of evidence support the tenet that tau pathology occurs downstream of amyloid-β deposition, it seems reasonable to consider PART as a separate disease process not necessarily related to Aβ and hence AD. Following this view, the early stages of neurofibrillary pathology may not always be the forerunner of diffuse neurofibrillary changes and AD. The ongoing debate further enhances the need for greater caution against any future predictions using tau cerebrospinal fluid and imaging biomarkers. © 2015 - IOS Press and the authors. Source


Granata T.,Carlo Besta Neurological Institute | Andermann F.,McGill University
Handbook of Clinical Neurology | Year: 2013

Rasmussen encephalitis (RE) is a rare, inflammatory, and possibly immuno-mediated disease that typically affects one hemisphere. The two cardinal symptoms are progressive neurological deficits and intractable seizures, often in the form of epilepsia partialis continua and recurring epileptic status. Distinctive MRI features include progressive unilateral focal cortical atrophy and gray or white matter high-signal changes with basal ganglion involvement. Histopathology is characterized by brain inflammation dominated by T cells, microglial activation, and microglial nodules, followed by neuronal loss and astrogliosis. The diagnosis of RE, which may be particularly challenging in the initial stages, is based on clinical and laboratory findings. The diagnosis requires the exclusion of other causes of epilepsia partialis continua, and other cerebral focal inflammatory diseases. The treatment of RE is often demanding: antiepileptic drugs are of limited effect, whereas the surgical exclusion of the affected hemisphere offers a very high chance of seizure freedom but at the price of irreversible neurological deficits. By contrast, long-term immunotherapy may delay hemispheric tissue loss and neurological deficits, but has a lesser effect on total seizure burden. Given that the severity of symptoms varies among different patients and phases, the therapeutic strategy, including medical and surgical options, must be tailored to the need of each patient. © 2013 Elsevier B.V. Source


Giovagnoli A.R.,Carlo Besta Neurological Institute | Bell B.,University of Wisconsin - Madison
Epilepsy Research | Year: 2011

This study provides evidence of non-verbal cognitive functioning in temporal (TLE) and frontal lobe epilepsy (FLE) patients by exploring the mechanisms and neural correlates of drawing abilities. Sixty-six patients with left (n=32) or right TLE (n=34), 30 patients with left (n=18) or right FLE (n=12), and 30 healthy subjects were compared. The Drawing from Memory (DfM) test required participants to design 16 living or non-living items; the total score was the sum of all scores blindly provided by three judges who had to identify the drawings. The verbal and visual Pyramid and Palm Trees Test (PPTT), Raven Colored Progressive Matrices (Raven CPM), Cube Analysis, Token Test, Word Fluency, Card Classification, and Rey Complex Figure Test Copy trial (Rey CFC) assessed different verbal and non-verbal functions. Non-parametric statistics indicated that, with respect to controls, both TLE groups and the left FLE patients had significantly lower DfM scores. In the TLE group, hierarchical regression analyses revealed that the DfM score was predicted by the Raven CPM and PPTT scores, while, in the FLE group, it was predicted by the Rey CFC. Thus, drawing abilities may be impaired by TLE or FLE owing to different mechanisms that involve semantic or executive abilities. Implying cooperation between temporal and frontal areas that support these functions, DfM may be a sensitive index of integrity of cortical areas or neural pathways damaged by focal epilepsy. © 2011 Elsevier B.V. Source


Merkies I.S.J.,Spaarne Hospital | Merkies I.S.J.,Maastricht University | Lauria G.,Carlo Besta Neurological Institute | Faber C.G.,Maastricht University
Current Opinion in Neurology | Year: 2012

Purpose of Review: The aim of this review is to inform and educate clinicians through statements about the most important clinimetric requirements for outcome measures in peripheral neuropathies. Recent Findings: The basic needs of an outcome measure (simple, valid, reliable, and responsive) are generally well known by physicians. However, techniques such as the Rasch methodology offer modern additional requirements, particularly in the development of interval-based outcome measures. Summary: Peripheral neuropathies are chronic disorders that generally cause deficits at the body level (impairments, e.g. weakness and sensory deficit) and may lead to problems in daily life and social functioning with a reduction in quality-of-life expectations. Fundamental steps should be taken in the design of clinical studies in peripheral neuropathies to ameliorate these deficits, of which the choice of a proper outcome measure representing the level of interest is considered a crucial one. However, choosing a proper outcome is not only dependent on the proposed research purpose, but perhaps more importantly, on the fulfilment of the clinimetric needs by the scale of interest. All outcome measures should be rigorously examined to determine their scientific soundness before being generally used. Respecting the basic needs of an outcome measure like being simple, valid, reliable, and responsive, this review will highlight through statements the modern scientific essentials in the design and evaluation of an outcome measure. The Rasch method as a modern vehicle will also be addressed, accentuating the need to shift towards a more modern clinimetric era. The presented findings could be applied to all forms of peripheral neuropathies. © 2012 Wolters Kluwer Health | Lippincott Williams & Wilkins. Source


Lauria G.,Carlo Besta Neurological Institute | Merkies I.S.J.,Spaarne Hospital | Merkies I.S.J.,Maastricht University | Faber C.G.,Maastricht University
Current Opinion in Neurology | Year: 2012

Purpose of Review: This review summarizes the most recent advances in classification, diagnostic assessment, and treatment of small fibre neuropathy (SFN). Recent Findings: Clinically based diagnostic criteria for SFN have been proposed and reliably supported by the recent availability of age-adjusted and sex-adjusted normative values for intraepidermal nerve fibre density. Apart from skin biopsy, corneal confocal microscopy and nociceptive evoked potentials have been implemented to investigate SFN of different causes, and correlated with skin biopsy findings, especially in diabetic patients. The association between SFN and several metabolic and immune-mediated systemic diseases, and drugs toxic to this subset of peripheral nerve fibres has been reported. An exciting advance has been the identification of gain-of-function mutations in the SCN9A gene encoding for Nav1.7 sodium channel in patients with SFN, leading to the definition of a new genetic channelopathy. Summary: SFN represents a distinct condition encountered in patients with different acquired and genetic disorders. The recent improved definition of clinical and skin biopsy criteria allows clinicians to reliably meet the diagnosis, identify the underlying cause, and prescribe appropriate treatments. This meaningful approach permits the correct management of patients in clinical practice and the design of symptomatic and disease-modifying clinical trials. © 2012 Wolters Kluwer Health | Lippincott Williams & Wilkins. Source

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