Abstract：
:Amyotrophic Lateral Sclerosis and CHARGE syndrome are complex neurological disorders, which never occurred together in the same family and, to date, no putative correlation between them has been described on PubMed Central. Due to our aim was to evaluate the presence of different genetic variants involved in these pathologies, we reported a clinical and genetic description of two sisters affected by these two different disorders. In the CHARGE patient, molecular analysis of the CHD7 gene revealed the c.8016G >A de novo variant in exon 37. The ALS patient had been screened negative for mutations in SOD1, TARDBP, FUS/TLS, C9orf72 and KIF5A genes. Anyway, targeted next generation sequencing analysis identified known and unknown genetic variations in 39 ALS-related genes: a total of 380 variants were reported, of which 194 in the ALS patient and 186 in the CHARGE patient. To date, although the results suggest that the occurrence of the two syndromes in the same family is co-incidental rather than based on a causative genetic variant, we could hypothesize that other factors might act as modulators in the pathogenesis of these different phenotypes.
journal_name
Acta Neurol Belgjournal_title
Acta neurologica Belgicaauthors
Ungaro C,Citrigno L,Trojsi F,Sprovieri T,Gentile G,Muglia M,Monsurrò MR,Tedeschi G,Cavallaro S,Conforti FLdoi
10.1007/s13760-018-1029-2subject
Has Abstractpub_date
2018-12-01 00:00:00pages
629-635issue
4eissn
0300-9009issn
2240-2993pii
10.1007/s13760-018-1029-2journal_volume
118pub_type
杂志文章abstract：:Myelin oligodendrocyte glycoprotein antibody (MOG-Ab) is involved in the pathogenesis of central nervous system (CNS) demyelination disorders. We aimed to explore the spectrum of MOG-Ab-associated diseases in eastern India. A single-center, prospective observational study was done over a period of 2 years in a tertiar...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-020-01356-9
更新日期：2020-04-20 00:00:00
abstract：:Despite intensive research efforts, the cause of the muscular dystrophies has remained elusive for many decades. In the late 1980s, major advances in molecular genetics have led to the discovery of the dystrophin gene and its protein product, dystrophin. Mutations in the dystrophin gene result in dystrophin deficiency...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章,评审
doi：
更新日期：1995-01-01 00:00:00
abstract：:Although migraine is a neurological disorder known for its long, physiopathology remains unclear. The aim of this study was to investigate the levels of hematological parameters and neutrophil/lymphocyte ratio (NLR), platelet/lymphocyte ratio (PLR), lymphocyte/monocyte ratio (LMR) and neutrophil/monocyte ratio (NMR) u...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-020-01362-x
更新日期：2020-04-28 00:00:00
abstract：:Biochemical, physiological and functional studies suggest that the brain renin-angiotensin system (RAS) is regulated independently of the peripheral RAS. Also, all enzymes and peptides necessary for the biosynthesis of various angiotensins have been recognized within the central nervous system. There are divergent opi...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章,评审
doi：
更新日期：2009-09-01 00:00:00
abstract：:For a long-term period (25-30 years) the author sums up the results obtained by cervical discectomy through a ventral route followed by interbody arthrodisis. In the disc diseases, the radicular syndromes gave excellent results, the medullar syndromes good results. In the cervical injuries, the results were always goo...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1987-03-01 00:00:00
abstract：:Smoking is associated with increased multiple sclerosis (MS) risk. In addition, some studies have reported that smoking is associated with anxiety and depression. However, the associations between smoking, walking, and fatigue are needed to be investigated. The objective was to investigate the associations between cig...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-020-01341-2
更新日期：2020-03-28 00:00:00
abstract：: ...
journal_title：Acta neurologica Belgica
pub_type： 信件
doi：10.1007/s13760-018-0897-9
更新日期：2018-12-01 00:00:00
abstract：:A case of femoral palsy associated with chronic pain sensible to Carbamazepine, secondary to iliacus haematoma during anticoagulant therapy is reported. Late femoral nerve decompression followed by transcutaneous neurostimulation permit the normalization of the sensory nerve conduction and a complete clinical recovery...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1985-11-01 00:00:00
abstract：:On the basis of 90 cerebral AVMs, the authors study clinical signs which show the AVM, before a dramatic bleeding. Such clinical signs are: benign subarachnoid hemorrhage or intracranial hypertension and, only for lobar AVMs, migraine, epileptic seizures, progressive neurological deficit. In such cases a misdiagnosis ...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1985-03-01 00:00:00
abstract：:The cerebral haemodynamic and metabolic changes due to cavernous angiomas in three patients and to arteriovenous malformations in four patients were compared by positron emission tomography, using the steady state technique with 15O. In the brains with a cavernous angioma no important changes in blood flow were observ...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1994-01-01 00:00:00
abstract：:After a review of current concepts about post-traumatic mutism, the authors describe five patients with this unusual symptom. The study extends on a long follow-up period. Differential diagnosis and possible neurological and psychopathological factors are discussed. Analysis of their personal observations leads the au...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1979-09-01 00:00:00
abstract：:There have been recent reports of antibody-mediated status epilepticus. The objective of our study was to investigate the prevalence of neuronal autoantibodies in patients with status epilepticus (SE) with unresolved etiology. The presence of neuronal autoantibodies was investigated prospectively in adult patients wit...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-017-0796-5
更新日期：2017-12-01 00:00:00
abstract：:Catatonia was first described by Kahlbaum in 1874. Ever since, the concept of catatonia has been the focus of debate, a major point of discussion being its nosological status. The question rises whether it is to be considered a syndrome with a wide variety of causes and clinical signs or a distinct clinical entity. Si...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2007-06-01 00:00:00
abstract：:On the basis of eight case studies conducted since 1980 the authors define the concept of subdural hematoma showing a level on the CAT scan image. The concept throws some light on the etiopathogenesis of certain hematoma. ...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1983-08-01 00:00:00
abstract：:Clinical records and EEGs of 114 consecutive patients with clinical diagnosis of Alzheimer's disease have been reviewed. The EEGs of 15 patients (13%) contained triphasic waves. Triphasic waves were always atypical as they occurred singularly or in short bursts, and/or they had occipital predominance, and/or they were...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1990-01-01 00:00:00
abstract：:We wanted to explore possible differences in disease presentation, frequency, and age of onset of dementia with Lewy bodies (DLB) between first-generation immigrants (FGI) and patients born in Belgium (PBIB). We conducted a retrospective study on all patients of our Memory Clinic between June 1, 2010 and January 31, 2...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-020-01492-2
更新日期：2020-09-15 00:00:00
abstract：:The objective of the study was to investigate the associations between the degree of edema with the clinical and biochemical parameters such as serum lactate dehydrogenase (LDH), albumin (ALB) in posterior reversible encephalopathy syndrome (PRES) patients. Forty-nine patients with typical clinical symptoms and charac...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-012-0060-y
更新日期：2012-09-01 00:00:00
abstract：OBJECTIVE:To study the impact of cognitive impairment and severity of dementia on the quality of life (QoL) of patients and their caregivers. DESIGN:Descriptive cross-sectional study within the NAtional Dementia Economic Study. SETTING:231 general practices and 15 specialist clinics in Belgium. SUBJECTS:605 patients...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2003-03-01 00:00:00
abstract：:Five to 10 mul of 196 cerebrospinal fluid samples were subjected to agar gel electrophoresis without previous concentration. No "degenerative" pattern was found to be correlated with any clinical diagnosis or group of diagnoses, Repeated freezing and thawing appears to have different effects on the different fractions...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1974-11-01 00:00:00
abstract：:Cluster headache (CH) is among the most painful headache disorders. There is still no unifying pathophysiological hypothesis to explain the trigeminal distribution, the circadian periodicity and the autonomic symptoms of the syndrome. We report the case of a patient with worsening of CH following administration of pra...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2010-09-01 00:00:00
abstract：:Many studies have reported that repetitive transcranial magnetic stimulation (rTMS) is beneficial for post-stroke patients with upper limb hemiparesis. It was reported that application of rTMS during sleep could possibly strengthen neural plasticity. The purpose of this study was to investigate the relationship betwee...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-018-0957-1
更新日期：2019-06-01 00:00:00
abstract：:The aim of this study was to investigate retinal nerve fiber layer (RNFL) thickness and macular changes (central subfield thickness, cube average thickness, cube volume) in patients with chronic migraine (CM) without visual impairment using spectral-domain optical coherence tomography (SD-OCT) and to compare the resul...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-012-0150-x
更新日期：2013-06-01 00:00:00
abstract：:Most of the brominated monoureide and bromide salt containing drugs are obtainable in Belgium without prescription. Apart from the regularly encountered suicidal attempts, these drugs can also, without the intention of the patient, cause bromism . We report two cases of patients recently admitted because of bromism af...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1984-03-01 00:00:00
abstract：:The authors report ten cases of progressive dementia. Nine are associated with gait disturbances and seven with urinary incontinence. Despite the severity of dementia and Ct Scan signs of cortical atrophy, magnitude of neuroradiological ventricular dilatation and ventricular reflux at isotopic cisternography lead to s...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1989-05-01 00:00:00
abstract：:High resolution MRI is very important in the evaluations of patients with intractable temporal lobe epilepsy in preoperative investigations. Morphologic abnormalities on cranial MRI usually indicate the epileptogenic focus. Intractable TLE patients who have normal cranial MRI or bilateral hippocampal atrophy may have ...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2006-03-01 00:00:00
abstract：:The purpose of the study was to evaluate the relationship between sympathetic skin responses (SSR), electrodiagnostic reflex activities (F wave, H reflex), and functional capacity in post-stroke patients. The study comprised 40 hemiplegia patients (mean age 57.8 ± 10.9 years) and 40 healthy volunteers (mean age 557 ± ...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-014-0397-5
更新日期：2015-09-01 00:00:00
abstract：:Appropriate treatment of neonatal seizures with an effective therapy is important in reducing long-term neurologic disabilities. Sixty-seven neonates, who received intravenous (IV) levetiracetam (LEV) as first-line therapy for treating seizures between 2013 and 2017 were evaluated retrospectively to investigate the ef...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-020-01366-7
更新日期：2020-05-18 00:00:00
abstract：:Amyotrophic lateral sclerosis (ALS) is associated with frontotemporal lobar degeneration (FTLD) in 15% of the cases. A neuropathological continuity between ALS and FTLD-TDP is suspected. The present post-mortem 7.0-tesla magnetic resonance imaging (MRI) study compares the topographic distribution of iron (Fe) depositi...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-017-0832-5
更新日期：2017-12-01 00:00:00
abstract：:Neurosarcoidosis is a diagnostic challenge, especially in the absence of systemic involvement, even when cerebral biopsies show noncaseating granulomas. We report a patient with a pineal germinoma associated with a extensive peri- and intra- tumoural granulomatous reaction, who was first diagnosed as possible neurosar...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2009-06-01 00:00:00
abstract：:We report a consanguineous family with a homozygous and heterozygous membrane metallo-endopeptidase (MME) mutation (c.467delC) and two clinical conditions: fetomaternal alloimmune membranous glomerulopathy (FMG) and hereditary motor and sensory axonal neuropathy. The penetrance of both phenotypes was variable. Some in...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-020-01275-9
更新日期：2020-02-01 00:00:00
