Phenotypical characterization of alpha-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young.
; ; et al
in Clinical Neurology & Neurosurgery (2012)
OBJECTIVE: In the Belgian Fabry Study (BeFaS), the prevalence of Fabry disease was assessed in 1000 young patients presenting with stroke, unexplained white matter lesions or vertebrobasilar ... [more ▼]
OBJECTIVE: In the Belgian Fabry Study (BeFaS), the prevalence of Fabry disease was assessed in 1000 young patients presenting with stroke, unexplained white matter lesions or vertebrobasilar dolichoectasia. The results of the BeFaS suggested that Fabry disease may play a role in up to 1% of young patients presenting with cerebrovascular disease. However, the clinical relevance was unclear in all cases. We report on detailed phenotyping in subjects identified with alpha-galactosidase A (alpha-Gal A) enzyme deficiency or GLA mutations identified in the BeFaS (n=10), and on the results of family screening in this population. METHODS: Family screening was performed to identify additional mutation carriers. Biochemical and/or clinical evaluation of all subjects (BeFaS index patients and relatives carrying a GLA mutation) was performed. RESULTS: Genetic family screening revealed 18 additional GLA mutation carriers. Bloodspot alpha-Gal A enzyme activity was normal in all GLA mutation carriers, even in 2 males with the p.A143T mutation. Plasma Gb3 and lyso-Gb3 levels were normal in all subjects. Elevated Gb3 in urine was detected in 2 subjects. Some classic clinical signs of Fabry disease, like angiokeratoma or cornea verticillata, could not be detected in our population. Cardiac symptoms of Fabry disease were found in 6 out of 10 p.A143T carriers. No signs of cerebrovascular disease were found in the relatives with a GLA mutation. CONCLUSIONS: We could not identify mutations causing the classical clinical phenotype of Fabry disease in our cerebrovascular disease population. Enzyme activity analysis in bloodspots and plasma may fail to identify late-onset variants of Fabry disease. We recommend genetic testing when an atypical, late-onset variant of Fabry disease is suspected in a male cerebrovascular disease patient. However, this may lead to the identification of non-disease causing or controversial genetic variants. [less ▲]Detailed reference viewed: 25 (0 ULg)
Electrophysiological investigations of brain function in coma, vegetative and minimally conscious patients.
Lehembre, Remy ; Gosseries, Olivia ; et al
in Archives Italiennes de Biologie (2012), 150(2-3), 122-39
Electroencephalographic activity in the context of disorders of consciousness is a swiss knife like tool that can evaluate different aspects of cognitive residual function, detect consciousness and ... [more ▼]
Electroencephalographic activity in the context of disorders of consciousness is a swiss knife like tool that can evaluate different aspects of cognitive residual function, detect consciousness and provide a mean to communicate with the outside world without using muscular channels. Standard recordings in the neurological department offer a first global view of the electrogenesis of a patient and can spot abnormal epileptiform activity and therefore guide treatment. Although visual patterns have a prognosis value, they are not sufficient to provide a diagnosis between vegetative state/unresponsive wakefulness syndrome (VS/UWS) and minimally conscious state (MCS) patients. Quantitative electroencephalography (qEEG) processes the data and retrieves features, not visible on the raw traces, which can then be classified. Current results using qEEG show that MCS can be differentiated from VS/UWS patients at the group level. Event Related Potentials (ERP) are triggered by varying stimuli and reflect the time course of information processing related to the stimuli from low-level peripheral receptive structures to high-order associative cortices. It is hence possible to assess auditory, visual, or emotive pathways. Different stimuli elicit positive or negative components with different time signatures. The presence of these components when observed in passive paradigms is usually a sign of good prognosis but it cannot differentiate VS/UWS and MCS patients. Recently, researchers have developed active paradigms showing that the amplitude of the component is modulated when the subject's attention is focused on a task during stimulus presentation. Hence significant differences between ERPs of a patient in a passive compared to an active paradigm can be a proof of consciousness. An EEG-based brain-computer interface (BCI) can then be tested to provide the patient with a communication tool. BCIs have considerably improved the past two decades. However they are not easily adaptable to comatose patients as they can have visual or auditory impairments or different lesions affecting their EEG signal. Future progress will require large databases of resting state-EEG and ERPs experiment of patients of different etiologies. This will allow the identification of specific patterns related to the diagnostic of consciousness. Standardized procedures in the use of BCIs will also be needed to find the most suited technique for each individual patient. [less ▲]Detailed reference viewed: 34 (0 ULg)
La vignette diagnostique de l'étudiant. La paralysie faciale ... pas toujours si facile que cela !
Jedidi, Zayd ; Sadzot, Bernard
in Revue Médicale de Liège (2011), 66(11)
We report the case of a 45 years old woman who experienced two episodes of facial palsy, first on the left side, then on the other. this particular case allows us to discuss the diagnostic process and ... [more ▼]
We report the case of a 45 years old woman who experienced two episodes of facial palsy, first on the left side, then on the other. this particular case allows us to discuss the diagnostic process and clinical reasoning to follow in front of this symptomatology -using a didactic questioning- and to briefly review the anatomy of the seventh cranial nerve. treatment and possible complications are also discussed [less ▲]Detailed reference viewed: 32 (10 ULg)
Primary diffuse leptomeningeal gliomatosis: an autopsy case and review of the literature
Somja, Joan ; Boly, Mélanie ; Sadzot, Bernard et al
in Acta Neurologica Belgica (2010), 110(4), 325-33
We report a case of primary diffuse leptomeningeal gliomatosis (PDLG) in a 76-year-old male presenting with confusion, dysarthria, diplopia, lumbal pain and headaches of recent onset. Neurological ... [more ▼]
We report a case of primary diffuse leptomeningeal gliomatosis (PDLG) in a 76-year-old male presenting with confusion, dysarthria, diplopia, lumbal pain and headaches of recent onset. Neurological examination revealed nuchal rigidity and bilateral sixth cranial nerve palsy. The cerebrospinal fluid showed a marked hyperproteinorachia (4711 mg/L) and mild cytorachia (5-10 leucocytes/mm3) with a few atypical lymphoid cells. On admission, brain CT scan and MRI demonstrated diffuse and nodular leptomeningeal contrast enhancement predominant at the skull base and several osteolytic lesions in the right parietal bone. Extensive serological studies for infectious, autoimmune or neoplastic diseases were negative. The work-up diagnosis was neurosarcoidosis or multiple meningeal and osseous metastases of an unknown primary cancer. Surgical biopsy of the right parietal bone lesion showed only fibrous tissue with no evidence of tumour or inflammation. The patient was treated with high dose corticosteroids but its neurological status progressively worsened and he died of aspiration pneumonia 35 days after admission. Post-mortem examination revealed a PDLG, a rare fatal tumour with about 60 cases reported. PDGL is characterized by the diffusion of neoplastic glial cells throughout the leptomeninges without evidence of a primary intra-parenchymal lesion. Recognition of this rare brain tumour is important as recent reports suggest that radiotherapy and chemotherapy can improve patient survival. [less ▲]Detailed reference viewed: 40 (18 ULg)
Comment prédire l'évolution du coma post-anoxique?
Kirsch, Murielle ; Boveroux, Pierre ; Massion, Paul et al
in Revue Médicale de Liège (2008), 63(5-6), 263-268Detailed reference viewed: 145 (12 ULg)
Evaluation du pronostic neurologique dans les encéphalopathies postanoxiques
Boveroux, Pierre ; Kirsch, Murielle ; Boly, Mélanie et al
in Réanimation (2008), 17Detailed reference viewed: 49 (11 ULg)
Des statines pour le cerveau. Le point en 2008.
Scheen, André ; Radermecker, Régis ; Sadzot, Bernard
in Revue Médicale de Liège (2008), 63(5-6), 287-92
Statins are essential drugs for the prevention of coronary artery disease. There is now evidence that they can also prevent ischemic stroke. The protective effect is related to the reduction in total and ... [more ▼]
Statins are essential drugs for the prevention of coronary artery disease. There is now evidence that they can also prevent ischemic stroke. The protective effect is related to the reduction in total and LDL cholesterol levels and the clinical benefit is especially high in secondary prevention patients with previous stroke and/or transient ischemic accident. The favourable role of statins is less well documented during an acute stroke than during an acute coronary syndrome, and certainly deserves further studies. Besides their specific cholesterol-lowering effect, statins exert various pleiotropic effects, which probably contribute to vascular protection. Furthermore, statins are able to reduce the formation of beta-amyloid peptide, which plays a key-role in the pathogenesis of Alzheimer disease. However, currently available results are heterogeneous and could not firmly support a protective effect of statins in dementia in general, neither in Alzheimer disease more specifically, nor in the reduction of cognitive function in the elderly. Several ongoing trials should confirm or not confirm this new potential indication of statins in a near future. [less ▲]Detailed reference viewed: 51 (6 ULg)
Therapeutic armamentarium in neurology: the birth of a new era
Belachew, Shibeshih ; Magis, Delphine ; Lievens, Isabelle et al
in Revue Médicale de Liège (2007), 62(5-6), 432-448
The field of neurology was long infamous for a lack of therapeutic options. How many of you have once thought: "Neurologists don't cure the disease, they admire it". But those days have passed into ... [more ▼]
The field of neurology was long infamous for a lack of therapeutic options. How many of you have once thought: "Neurologists don't cure the disease, they admire it". But those days have passed into history, and the field is now vibrant with new treatments and hope even for patients with the worst neurodegenerative diseases. We summarized in the present review the latest major advances in therapeutic principles and practice for some of the most frequent chronic neurological disorders such as headaches, epilepsy, multiple sclerosis, dementias, Parkinson's disease, sleep/wake disturbances and peripheral neuropathies. We cannot cure or prevent, but we can now halt or control symptoms and disease progression to provide physical and psychological relief, and a better quality of life for patients who suffer from these otherwise devastating neurological conditions. [less ▲]Detailed reference viewed: 141 (14 ULg)
Quelles indications pour les statines hormis le traitement de l'hypercholesterolemie?
Scheen, André ; Sadzot, Bernard
in Revue Médicale Suisse (2005), 1(30), 19541956-9
Statins are essential drugs for the prevention of coronary and cerebral vascular complications. Besides their specific cholesterol-lowering effect, these agents exert various pleiotropic effects, which ... [more ▼]
Statins are essential drugs for the prevention of coronary and cerebral vascular complications. Besides their specific cholesterol-lowering effect, these agents exert various pleiotropic effects, which probably contribute to the cardiovascular protection, but may also play a favourable effect in various other pathologies. Some recent data suggested that statins may play a positive effect in the prevention of Alzheimer disease and colorectal cancer. In contrast, after some initial hope, recent observations in the field of osteoporosis prevention provided discordant and finally rather disappointing results. New prospective studies are mandatory before accepting such new potential indications of statins. [less ▲]Detailed reference viewed: 77 (1 ULg)
Zerebrale Funktionen bei hirngeschädigten Patienten. Was bedeuten Koma, "vegetative state“, "minimally conscious state“, "Locked-in-Syndrom“ und Hirntod?
Faymonville, Marie-Elisabeth ; ; et al
in Anaesthesist (2004), 53(12), 1195-1202
Comatose, vegetative, minimally conscious or locked-in patients represent a problem in terms of diagnosis, prognosis, treatment and everyday management at the intensive care unit. The evaluation of ... [more ▼]
Comatose, vegetative, minimally conscious or locked-in patients represent a problem in terms of diagnosis, prognosis, treatment and everyday management at the intensive care unit. The evaluation of possible cognitive functions in these patients is difficult because voluntary movements may be very small, inconsistent and easily exhausted. Functional neuroimaging cannot replace the clinical assessment of patients with altered states of consciousness. Nevertheless, it can describe objectively how deviant from normal the cerebral activity is and its regional distribution at rest and under various conditions of stimulation. The quantification of brain activity differentiates patients who sometimes only differ by a brief and incomplete blink of an eye. In the present paper, we will first try to define consciousness as it can be assessed at the patient's bedside. We then review the major clinical entities of altered states of consciousness encountered in the intensive care unit. Finally, we discuss the functional neuroanatomy of these conditions as assessed by positron emission tomography (PET) scanning. [less ▲]Detailed reference viewed: 118 (11 ULg)
Sodium bromide encephalopathy with decreased serum Cl- level and increased anion gap: report of one case.
Robe, Pierre ; Sadzot, Bernard ;
in European Neurology (2004), 51(4), 246-7Detailed reference viewed: 15 (0 ULg)
Residual cerebral functioning in the vegetative state
Laureys, Steven ; Faymonville, Marie-Elisabeth ; et al
in Arco di Giano (2004)Detailed reference viewed: 51 (28 ULg)
Brain function in the vegetative state
Laureys, Steven ; ; Boly, Mélanie et al
in Acta Neurologica Belgica (2002), 102(4), 177-185
Positron emission tomography (PET) techniques represent a useful tool to better understand the residual brain function in vegetative state patients. It has been shown that overall cerebral metabolic rates ... [more ▼]
Positron emission tomography (PET) techniques represent a useful tool to better understand the residual brain function in vegetative state patients. It has been shown that overall cerebral metabolic rates for glucose are massively reduced in this condition. However, the recovery of consciousness from vegetative state is not always associated with substantial changes in global metabolism. This finding led us to hypothesize that some vegetative patients are unconscious not just because of a global loss of neuronal function, but rather due to an altered activity in some critical brain regions and to the abolished functional connections between them. We used voxel-based Statistical Parametric Mapping (SPM) approaches to characterize the functional neuroanatomy of the vegetative state. The most dysfunctional brain regions were bilateral frontal and parieto-temporal associative cortices. Despite the metabolic impairment, external stimulation still induced a significant neuronal activation (i.e., change in blood flow) in vegetative patients as shown by both auditory click stimuli and noxious somatosensory stimuli. However this activation was limited to primary cortices and dissociated from higher-order associative cortices, thought to be necessary for conscious perception. Finally, we demonstrated that vegetative patients have impaired functional connections between distant cortical areas and between the thalami and the cortex and, more importantly, that recovery of consciousness is paralleled by a restoration of this cortico-thalamo-cortical interaction. [less ▲]Detailed reference viewed: 79 (24 ULg)
Forme péronière d‘une dystrophie musculaire facio-scapulo-humérale liée au chromosome 4q35
; SADZOT, Bernard ; Deprez, Manuel et al
Conference (2002)Detailed reference viewed: 9 (0 ULg)
Forme scapulo-peroniere a revelation tardive d'une dystrophie musculaire facio-scapulo-humerale, liee a une deletion chromosomique 4q35.
Zeevaert, Bernard ; Sadzot, Bernard ; Deprez, Marie-Claire et al
in Revue Neurologique (2002), 158(12), 1210-3Detailed reference viewed: 9 (3 ULg)
Comment je traite ... une epilepsie refractaire par stimulation du nerf vague
Sadzot, Bernard ; Martin, Didier
in Revue Médicale de Liège (2001), 56(6), 407-10
Intermittent left vagus nerve stimulation is a novel therapeutic modality that can be proposed to patients with a refractory epilepsy and for whom resective surgery is not an option. Its precise mechanism ... [more ▼]
Intermittent left vagus nerve stimulation is a novel therapeutic modality that can be proposed to patients with a refractory epilepsy and for whom resective surgery is not an option. Its precise mechanism of action is not known. Controlled studies have shown that its efficacy is similar to that of antiepileptic drugs: 50% decrease in seizure frequency in 40% patients after two years. Side effects which are generally mild to moderate are the result of a diffusion of the stimulation to the larynx. No CNS side effect has been reported. [less ▲]Detailed reference viewed: 114 (4 ULg)
Meningeal inflammatory pseudotumour: a case report.
; Sadzot, Bernard ; Lejeune, Jean-Luc et al
in Acta Neurologica Belgica (2001), 101(2), 116-20
We report the case of a meningeal inflammatory pseudotumour occurring in a 23-year-old male presenting with focal seizures and headaches. Brain imaging techniques showed a 3.5 cm left parietal meningeal ... [more ▼]
We report the case of a meningeal inflammatory pseudotumour occurring in a 23-year-old male presenting with focal seizures and headaches. Brain imaging techniques showed a 3.5 cm left parietal meningeal tumour. Histology of the surgical specimen showed a dense lymphoid infiltrate permeating the dura mater and leptomeninges, consisting of a predominant polyclonal B cell population as confirmed by immunophenotyping and genotyping. Cultures of serum, CSF, and surgical specimen were negative and there was no serological evidence of a systemic dysimmune disease. The postoperative course was complicated by an episode of brain oedema resolving under steroid therapy. The patient, free from all medication, is asymptomatic at 3 years of follow-up. We discuss previously published cases and the nosology of intracranial inflammatory pseudotumours. [less ▲]Detailed reference viewed: 16 (0 ULg)
Exploration neuropsychologique et par imagerie fonctionnelle cérébrale d'une apraxie visuo-imitative
Peigneux, Philippe ; Van der Linden, Martial ; et al
in Revue Neurologique (2000), 156(5), 459-472
We describe the case of a 58-years-old right-handed women suffering from an occipital-parietal lesion. The administration of a cognitively based assessment tool for limb praxis (Batterie d'Evaluation des ... [more ▼]
We describe the case of a 58-years-old right-handed women suffering from an occipital-parietal lesion. The administration of a cognitively based assessment tool for limb praxis (Batterie d'Evaluation des Praxies, B.E.P., Peigneux and Van der Linden, 1998) demonstrated bilateral visuo-imitative apraxia. Gesture production was mainly characterised by spatial, errors, and imitation of meaningful gestures was worse than their pantomime on verbal command. Moreover, the imitation of meaningless gestures and their reproduction on a manikin were worse than imitation of their matched meaningful gestures. In a cognitive perspective, adapted from the Rothi et al. (1997) and Goldenberg (1995) contributions to our understanding of limb praxis, this configuration of performance suggests deficits occurring at multiple levels. On one hand, it suggests either access difficulties or alteration of the output praxicon, i.e., the lexicon for visuo-kinesthetic engrams of meaningful gestures. On the other hand, the simultaneous deficit for meaningless gesture reproduction on the subject's own body and on a manikin favors an alteration of the structural descriptions of the human body (i.e., human body knowledge), underlying the mental transposition processes occurring between the visual analysis of a meaningless gestural configuration and its effective reproduction on oneself or on a manikin, thus contradicting the classic view of a direct pathway linking visual analysis and motor planning in meaningless gesture imitation. Finally, due to the output praxicon deficit, imitation of meaningful gestures is partly processed in the same way as meaningless gestures (also impaired in this case), leading to an interference effect between both degraded memory-based and visually-transposed traces, which account for imitation of meaningful gestures being worse than their pantomime on verbal command. We also assess regional cerebral metabolism using positron emission tomography (PET). Comparison with 41 healthy subjects (SPM96) demonstrated a statistically significant hypometabolism in the left intraparietal sulcus and superior parietal lobule, and in the right dorsal prestriate cortex. These results, together with a review of the other studies of visuo-imitative apraxia, suggest that the left intraparietal sulcus may be associated with access or integration of information from the output praxicon. The left superior parietal and the right dorsal prestriate deficits functionally impaired a bilateral dorsal network implied in the mental transformations of the body, thus suggesting that these mental transformations are underlined by knowledge of the human body, which may subsequently explain the deficit for the reproduction of meaningless and meaningful configurations. [less ▲]Detailed reference viewed: 34 (1 ULg)
Occulo-pharyngeal muscular distrophy : a case report
GARRAUX, Gaëtan ; WANG, François-Charles ; SADZOT, Bernard et al
Conference (1999)Detailed reference viewed: 4 (0 ULg)