[Show abstract][Hide abstract] ABSTRACT: Myoclonus–dystonia (M–D) is an autosomal-dominant movement disorder with onset in the first two decades of life. Mutations in the epsilon-sarcoglycan gene (SGCE, DYT11) on chromosome 7q21–q31 represent the major genetic cause of M–D in some populations. The syndrome was related with mutations in two other genes (DRD2 and DYT1). A second locus has been reported in one large M–D family (DYT15, 18p11), but no gene has been identified yet. In this review, we discuss genetic aspects of myoclonus–dystonia.
Full-text · Article · Jan 2016 · Molecular Neurobiology
[Show abstract][Hide abstract] ABSTRACT: Background:
X-linked adrenoleukodystrophy (X-ALD; OMIM: 300100) is the most common peroxisomal disease caused by mutations in the ATP-binding cassette, sub-family D member 1 gene or ABCD1 (geneID: 215), the coding gene for the adrenoleukodystrophy protein (ALDP), which is an ATP-binding transport protein associated to an active transport of very long chain fatty acids (VLCFAs). Dysfunction of ALDP induces an accumulation of VLCFAs in all tissues leading to a neurodegenerative disorder that involves the nervous system white matter.
In our case report, magnetic resonance imaging (MRI) as well as the high levels of VLCFAs prompted the diagnosis the X-ALD. Molecular analysis of ABCD1 gene have shown a pathogenic homozygous nonsense mutation (c.1677C > G; p.(Tyr559*)) in exon 7.
Thus, we identified here a novel mutation in the ABCD1 gene in a Moroccan patient causing X-linked adrenoleukodystrophy.
[Show abstract][Hide abstract] ABSTRACT: IntroductionNeuromyelitis optica (NMO) has been traditionally described as the association of optic neuritis and longitudinally extensive transverse myelitis (LETM) . Identification of aquaporin-4 antibody (AQP-4) has deeply changed the concept of this disease and allowed identification of cases beyond this classical phenotype . Indeed, clinical and MRI analysis of larger cohorts in the last few years, allowed the description of various â‰ª atypical â‰« clinical symptoms, as a syndrome of intractable hiccups nausea and vomiting (IHNV)  or more recently, painful tonic spasms (PTS)  and neuropathic pruritus (NP) .We report a case of LETM associated with AQP-4 antibodies, preceded by IHNV and NP and followed by PTS. To our knowledge, the association of these three unusual symptoms in the same patient has never previously been reported.Case reportA 45-year-old man was admitted in September 2010 after 9 weeks of severe vomiting and hiccups (resulting in a weight loss of 11 kg ...
No preview · Article · Jan 2015 · Acta neurologica Belgica
[Show abstract][Hide abstract] ABSTRACT: Nitric oxide plays a major role in the regulation of cerebral blood flow and loss of its function leads to alteration of the vascular relaxation given its central role in the physiology of the vascular system. G894T eNOS polymorphism could have adverse effects on the expression and activity of endothelial nitric oxide synthase, which can result in functional impairment of the endothelium and contribute to the development of ischemic stroke in the different models of transmission.
In this study, genotyping with PCR-RFLP and HRM (high resolution melting) methods were conducted on 165 ischemic stroke patients as well as 182 controls. The goal here was to compare genotyping with PCR-RLFP primer sequences of eNOS gene (size < 300 bp) to HRM.
Our data suggests a statistically significant association between G894T eNOS polymorphism and ischemic stroke in recessive, dominant and additive models with P < 0.05 and odds ratio of 2.68 (1.08–6.70), 1.78 (1.16–2.73), and 1.71 (1.21–2.43) respectively.
In sum, although the sample size is relatively small, it suggests that G894T eNOS polymorphism could be a potentially important genetic marker of ischemic stroke in the Moroccan population. Future studies should be conducted in this direction taking into consideration the functional activity of eNOS.
[Show abstract][Hide abstract] ABSTRACT: Introduction
The diagnostic approach for Alzheimer's disease is based on the presence of cerebral atrophy combined with the score of the mini-examination of the mental state. In this context, this study was conducted to assess the correlation between imaging and neuropsychological testing for cases of early-onset and late-onset Alzheimer's disease.
Aim of the study
Analysis of the clinical and paraclinical aspects of Moroccan cases with Alzheimer's disease.
Seventeen sporadic cases and 8 family cases were seen at the memory clinic of the Neurology Department of the University of Casablanca Ibn Rochd Hospital. A family history was obtained through a clinical interview of the patient and a yes or no self-reporting questionnaire from the guardian or other family member. The disease was considered familial if at least one additional first degree relative suffered from early-onset AD-type dementia. All patients underwent standard somatic neurological examination, cognitive function assessment, brain imaging and laboratory tests. Written consent was obtained from the patients and their guardians prior to the study.
In our study of 25 individuals, the observed mean age of AD patients was 64.52 ± 9.30 and we observed a slight female predominance (56% versus 44%). In addition, we found a prevalence of AD of approximately 20%, increasing with age, in the population below 60 years of age. Approximately half of our patients (48%) had a score lower than 10 and were affected by severe insanity, while 28% were affected by moderate severe insanity and 24% were light to moderately insane. Twenty-five patients underwent neuroimaging, 18 of whom were assessed by MRI, while 7 were assessed by CT. All patients had hippocampal atrophy, which progressed to affect others brain regions. The blood tests showed no abnormalities in the 25 enrolled AD cases.
Age is undoubtedly the main risk factor for AD; this is also the true for our cases where advanced age was responsible for the exponential increase of the disease's frequency; it reached a peak in the age group of 60–69 years. The AD diagnosis approach is based on the presence of cerebral atrophy combined with the score of the mini-examination of the mental state (MMSE). In our study, in addition to the MMSE, depending on the level of education, the clinician used other tests that do not necessarily require a level of education such as the BEC96, visual short-term or digital memory assessment, work memory assessment, language assessment test (DO80) and apraxia. Neuropsychological examination of the cases with a score of less than 10 showed severe cognitive impairment. The cases presented memory and language impairments, aphasia, visual spatial disorientation, decreased autonomy, executive dysfunction and praxis deficits, all major causes of severe dementia. Neuroimaging revealed hippocampal and cortical atrophy. Correlated with the other studies that aimed to establish links between brain alterations and neuropsychological disorders, we can conclude that a higher level of atrophy reflects a decrease in neuropsychological performance.
[Show abstract][Hide abstract] ABSTRACT: Les thrombophlébites cérébrales sont caractérisées par la grande diversité de leur présentation clinique et de leurs étiologies. Leur diagnostic est parfois difficile surtout si les manifestations cliniques sont atypiques évoquant un tableau d’hémorragie sous-arachnoïdienne. Nous rapportons deux cas de thrombophlébites cérébrales révélées par une hémorragie sous-arachnoïdienne et dont l’évolution clinique était bonne sous traitement anticoagulant.
No preview · Article · Nov 2014 · Feuillets de Radiologie