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See detailPhenotypical characterization of alpha-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young.
De Brabander, Isabel; Yperzeele, Laetitia; Ceuterick-De Groote, Chantal et al

in Clinical Neurology & Neurosurgery (2013), 115(7),

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 ▲]

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See detailCognitive deficits in patients with chronic fatigue syndrome compared to those with major depressive disorder and healthy controls
Constant, Eric; Adam, Stéphane ULg; Gillain, Benoît et al

in Clinical Neurology & Neurosurgery (2011), 113(4), 295-302

Object: It is frequently reported that cognitive complaints accompany the chronic fatigue syndrome (CFS). However, studies on cognition in CFS have yielded conflicting results. The neuropsychological ... [more ▼]

Object: It is frequently reported that cognitive complaints accompany the chronic fatigue syndrome (CFS). However, studies on cognition in CFS have yielded conflicting results. The neuropsychological literature on this subject is plagued by methodological difficulties, including, for example, the existence of comorbid depression, which is also associated with cognitive impairments. Patients and Methods: Twenty-five patients with CFS, 25 patients with major depressive disorder (MDD), and 25 healthy control subjects were given standardized tests of attention, working memory, and verbal and visual episodic memory, and were also tested for effects related to lack of effort/simulation, suggestibility, and fatigue. Results: Patients with CFS had slower phasic alertness, and also had impaired working, visual and verbal episodic memory compared to controls. They were, however, no more sensitive than the other groups to suggestibility or to fatigue induced during the cognitive session. Cognitive impairments in MDD patients were strongly associated with depression and subjective fatigue; in patients with CFS, there was a weaker correlation between cognition and depression (and no correlation with fatigue). Conclusions: This study confirms the presence of an objective impairment in attention and memory in patients with CFS but with good mobilization of effort and without exaggerated suggestibility. [less ▲]

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See detailClassical pituitary tumour apoplexy: clinical features, management and outcomes in a series of 24 patients.
Dubuisson, Annie ULg; Beckers, Albert ULg; Stevenaert, Achille ULg

in Clinical Neurology & Neurosurgery (2007), 109(1), 63-70

We retrospectively analysed the incidence, clinical presentation, endocrinological and radiological findings, medical and surgical management of pituitary apoplexy in our department (single-centre study ... [more ▼]

We retrospectively analysed the incidence, clinical presentation, endocrinological and radiological findings, medical and surgical management of pituitary apoplexy in our department (single-centre study), having a large experience in pituitary surgery. Among 1540 pituitary lesions, 24 patients presented with pituitary apoplexy. Their charts were retrospectively reviewed. The symptoms included headache (92%), nausea and vomiting (54%), visual deficit (50%), oculomotor paresis (54%) and/or an altered mental state (42%). Skull X-rays (n = 14) demonstrated an enlarged sella turcica in all cases; CT-scan and/or MRI always revealed a sellar and suprasellar expanding lesion. Panhypopituitarism was present on admission in 70% of the patients. Urgent therapeutic management included high-dose cortisone treatment in all but one patients and CSF drainage in three. Three patients were treated conservatively. Nine patients were operated on rapidly, within hours or a few days because of severe visual deficit and/or altered level of consciousness. Nineteen patients were operated by the trans-sphenoidal approach; one of them required a second operation by craniotomy. There were two deaths related to the illness and one to an ill-defined reason at 4 months. Among the other patients 95% made a good recovery. All but two patients required a substitutive treatment with adrenal (83%), thyroid (68%), gonadal (42%) and/or growth (16%) hormones. The preoperative visual deficits recovered in all but one patients (92%) whereas the oculomotor pareses improved in all but two patients (85%). In conclusion, pituitary tumour apoplexy is a rare event, complicating in our series 1.6% of 1540 pituitary adenomas. Even in severe cases, complete recovery is possible if the diagnosis is rapidly obtained and adequate management is initiated in time. Surgical results after trans-sphenoidal approach are in the majority of cases very satisfactory. [less ▲]

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See detailPrimary central nervous system lymphoma - Report of 32 cases and review of the literature
Dubuisson, Annie ULg; Kaschten, Bruno ULg; Lenelle, Jacques ULg et al

in Clinical Neurology & Neurosurgery (2004), 107(1), 55-63

We retrospectively analyzed 32 cases of primary central nervous system lymphoma (PCNSL). Five cases were diagnosed in the period 1987-1994, for 27 cases in the period 1995-2002. There were 17 men and 15 ... [more ▼]

We retrospectively analyzed 32 cases of primary central nervous system lymphoma (PCNSL). Five cases were diagnosed in the period 1987-1994, for 27 cases in the period 1995-2002. There were 17 men and 15 women whose median age was 69 years. Three patients were immunodeficient. The commonest symptoms were focal deficit (16 patients) and cognitive/behaviour disturbances (14 patients). Radiologically, a total of 47 contrast-enhancing lesions were observed in 32 patients; 18 patients had deep-seated lesions. All but two patients underwent histological diagnosis following craniotomy (11 patients) and/or stereotaxic biopsy (22 patients); diagnosis was obtained on CSF cytology in one patient with a third ventricle tumour. In the last patient, the diagnosis was based on the finding of marked tumour shrinkage under corticotherapy, despite two negative histological examinations. Treatment included surgical resection (10 patients), chemotherapy (25 patients) and/or radiotherapy (12 patients). According to the therapeutic recommendations of the GELA (Groupe d'Etude des Lymphomes de l'Adulte), 19 patients received at least two courses of high-dose methotrexate; intrathecal chemotherapy was used in 20 patients with methotrexate and/or cytosine arabinoside. Radiation therapy consisted of whole brain irradiation followed by a boost on tumour site. Nine patients received a combined treatment of chemotherapy and radiotherapy. Twelve patients showed rapid progression to death. At the time of last contact, 28/32 patients (88%) had died, all from PCNSL disease or from complications due to its treatment. The median Survival time was 13.9 months. We conclude that PCNSL is an increasingly frequent tumour. The diagnosis is obtained by stereotactic biopsy in the majority of cases. The prognosis appears dismal despite an intensive multidisciplinary therapeutic approach. (C) 2004 Elsevier B.V. All rights reserved. [less ▲]

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See detailFamilial colloid cyst of the third ventricle: neuroendocrinological follow-up and review of the literature.
Valdes Socin, Hernan Gonzalo ULg; Born, J.; Wallemacq, Caroline et al

in Clinical Neurology & Neurosurgery (2002), 104(4), 367-370

Colloid cysts of the third ventricle are rare, benign cysts of endodermal origin. Between 1989 and 1999, eight patients with this lesion (five females, three males), with a mean age of 40.5 years (range ... [more ▼]

Colloid cysts of the third ventricle are rare, benign cysts of endodermal origin. Between 1989 and 1999, eight patients with this lesion (five females, three males), with a mean age of 40.5 years (range 20-54), were identified out of 1354 operated for tumours of the central nervous system. Among the eight, two were familial. They were half sisters 38 and 28 years-old, who were diagnosed to have colloid cysts of the third ventricle on CT scanning. Transcortical excision yielded 10 and 15 mm sized colloid cysts, respectively. Moreover, both sisters developed a multinodular goiter associated with these congenital tumours. The second sibling developed hyperprolactinemia associated with macroprolactinemia. Pregnancy was only possible after bromocriptine treatment. These cases provide further evidences that colloid cysts probably have an autosomic recessive pattern of inheritance with variable penetrance. [less ▲]

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