Mystery Case: CSF-1R mutation is a cause of intracranial cerebral calcifications, cysts, and leukoencephalopathy
The authors retract the article "Mystery Case: CSF-1R mutation is a cause of intracranial cerebral calcifications, cysts, and leukoencephalopathy" by X. Ayrignac et al., which appeared in the Resident & Fellow Section in volume 86, page e262, because 4 of the figures were previously published in another journal (European Neurology 2012;67:151–153).2 The earlier article was not cited and there were 3 common authors (Magnin, Berger, and Labauge) on the papers. In addition to the duplicate publication, 1 image attributed to the index case in this article was attributed to his mother in the earlier article and 3 imag...
Source: Neurology - September 18, 2017 Category: Neurology Tags: RETRACTION Source Type: research
Author response: The autism "epidemic": Ethical, legal, and social issues in a developmental spectrum disorder
We thank Machado et al. for the comments on our review,1 and for the observations of abnormal anatomic and functional connectivity using diffusion-weighted MRI (DW-MRI). Innumerable studies have compared patients with autism spectrum disorders (ASD) and nonaffected controls at rest or while performing particular tasks, most often in small selected subject samples. For example, studies linked autism with the retino-collicular magnocellular visual pathways that project via the pulvinar to the amygdala, occipital V1, and multiple other areas, including the dorsal occipito-parietal/midtemporal streams, which participate with t...
Source: Neurology - September 18, 2017 Category: Neurology Authors: Graf, W. D., Miller, G., Epstein, L. G., Rapin, I. Tags: WRITECLICK & amp;reg; EDITOR ' S CHOICE Source Type: research
Letter re: The autism "epidemic": Ethical, legal, and social issues in a developmental spectrum disorder
Graf et al.1 wrote an interesting review on autism spectrum disorder (ASD), emphasizing the term "autism epidemic," supported by an editorial.2 Among other factors, increasing ASD diagnoses can be attributed to broader diagnostic criteria and the recognition of ASD existence differentiated from other neurodevelopmental diseases.2–4 One important issue, defended by the authors, is early screening and diagnosis with emphasis on the evolving practice of genetic testing for ASD.1 (Source: Neurology)
Source: Neurology - September 18, 2017 Category: Neurology Authors: Machado, C., Estevez, M., Rodriguez, R., Leisman, G. Tags: WRITECLICK & amp;reg; EDITOR ' S CHOICE Source Type: research
Author response: Long-term cerebral white and gray matter changes after preeclampsia
We thank Dr. Culebras for the comment on our article.1 Sleep apnea might be among the pathophysiologic pathways linking preeclampsia with increased risk of cerebrovascular disease in previously preeclamptic women. In fact, research recently focused on the role of sleep apnea in the etiopathogenesis of cerebrovascular and cardiovascular disease and demonstrated an increased stroke risk in patients with obstructive sleep apnea (OSA).2,3 Intermittent hypoxia with consecutive vascular dysregulation has been identified as a possible mechanism whereby OSA increases risk of stroke. This might be relevant to previously preeclampti...
Source: Neurology - September 18, 2017 Category: Neurology Authors: Siepmann, T., Boardman, H., Bilderbeck, A., Griffanti, L., Kenworthy, Y., Zwager, C., McKean, D., Francis, J., Neubauer, S., Yu, G. Z., Lewandowski, A. J., Sverrisdottir, Y. B., Leeson, P. Tags: WRITECLICK & amp;reg; EDITOR ' S CHOICE Source Type: research
Letter re: Long-term cerebral white and gray matter changes after preeclampsia
The article by Siepmann et al.1 identified long-term cerebral white matter changes and reduced cortical volume, presumably of vascular origin, in young women after pregnancy complicated by preeclampsia. The authors invoked persistent inflammation as the putative agent. Sleep apnea may be a link among pregnancy, preeclampsia, and cerebrovascular disease. (Source: Neurology)
Source: Neurology - September 18, 2017 Category: Neurology Authors: Culebras, A. Tags: WRITECLICK & amp;reg; EDITOR ' S CHOICE Source Type: research
Editors' Note
: In "Long-term cerebral white and gray matter changes after preeclampsia," the authors found that preeclampsia was associated with chronic temporal lobe white matter changes and reduced cortical volume in young women; the changes were consistent with persistent inflammation. (Source: Neurology)
Source: Neurology - September 18, 2017 Category: Neurology Authors: Alcauskas, M., Galetta, S. Tags: WRITECLICK & amp;reg; EDITOR ' S CHOICE Source Type: research
Optical coherence tomography angiography in pituitary tumor
A 32-year-old man with a pituitary tumor had bitemporal hemianopia (figure 1). Peripapillary retinal nerve fiber layer (RNFL) in optical coherence tomography (OCT) was reduced, which corresponded to visual field defects. OCT angiography showed a dropout of capillaries and correlated well with RNFL loss in the OCT (figure 2). Compressive optic neuropathy may be associated with loss of the retinal ganglion cell layer and impaired peripapillary retinal perfusion. OCT angiography may be helpful to detect various optic neuropathies and in analyzing the vascular status of the optic nerve head and RNFL.1 (Source: Neurology)
Source: Neurology - September 18, 2017 Category: Neurology Authors: Kim, K. H., Kim, U. S. Tags: All Imaging, Optic nerve, Visual loss NEUROIMAGES Source Type: research
Tetrabenazine and subthalamic stimulation in graft-induced dyskinesias
Putaminal fetal ventral mesencephalic stem cell transplantation has been advocated as a sustainable treatment for Parkinson disease (PD). Double-blind randomized clinical trials have inconclusively proven their benefit in the motor symptoms of PD despite evidence of graft viability, as shown by [18F]-fluorodopa PET.1 At variable intervals after grafting, 15%–57% of patients develop graft-induced dyskinesias (GID), which are characterized by violent, choreo-ballistic dyskinesias occurring regardless of the patient's medication state.2 GID are particularly difficult to manage: they do not respond to withdrawal of antip...
Source: Neurology - September 18, 2017 Category: Neurology Authors: Levy, A., Fasano, A. Tags: CLINICAL/SCIENTIFIC NOTES Source Type: research
Medication overuse headache: An entrenched idea in need of scrutiny
It is a widely accepted idea that medications taken to relieve acute headache pain can paradoxically worsen headache if used too often. This type of secondary headache is referred to as medication overuse headache (MOH); previously used terms include rebound headache and drug-induced headache. In the absence of consensus about the duration of use, amount, and type of medication needed to cause MOH, the default position is conservative. A common recommendation is to limit treatment to no more than 10 or 15 days per month (depending on medication type) to prevent headache frequency progression. Medication withdrawal is often...
Source: Neurology - September 18, 2017 Category: Neurology Authors: Scher, A. I., Rizzoli, P. B., Loder, E. W. Tags: Secondary headache disorders, All epidemiology, Natural history studies (prognosis) VIEWS & amp;amp; REVIEWS Source Type: research
Quality improvement in neurology: Essential Tremor Quality Measurement Set
Essential tremor (ET) is one of the most common movement disorders in the world, with prevalence rates in the general population ranging from 0.4% to 4.6%.1,2 The incidence of ET increases with age,1 with the average age at onset in mid-to-late 40s.3 ET is estimated to affect as many as 7 to 10 million Americans.3,4 Clinically, ET is characterized by bilateral, symmetric, postural tremor in hands and forearms, with or without kinetic tremor, in the absence of abnormal posturing or task specificity.5 ET can also affect lower extremities, head, and voice.6,7 Symptoms may be barely noticeable, or severe and disabling. (Source: Neurology)
Source: Neurology - September 18, 2017 Category: Neurology Authors: Zesiewicz, T. A., Sullivan, K. L., Ponce de Leon, M., Bennett, A., Hohler, A. D. Tags: All Health Services Research, All Movement Disorders, All Practice Management SPECIAL ARTICLE Source Type: research
A case-control study of hormonal exposures as etiologic factors for ALS in women: Euro-MOTOR
Conclusions:
This large case-control study across 3 different countries has demonstrated an association between exogenous estrogens and progestogens and reduced odds of ALS in women. These results are at variance with previous findings, which may be partly explained by differential regulatory, social, and cultural attitudes toward pregnancy, birth control, and HRT across the countries included. Our results indicate that hormonal factors may be important etiologic factors in ALS; however, a full understanding requires further investigation. (Source: Neurology)
Source: Neurology - September 18, 2017 Category: Neurology Authors: Rooney, J. P. K., Visser, A. E., D'Ovidio, F., Vermeulen, R., Beghi, E., Chio, A., Veldink, J. H., Logroscino, G., van den Berg, L. H., Hardiman, O., For the Euro-MOTOR Consortium Tags: Amyotrophic lateral sclerosis, Case control studies, Risk factors in epidemiology ARTICLE Source Type: research
Human dorsal root ganglion in vivo morphometry and perfusion in Fabry painful neuropathy
Conclusions:
Patients with Fabry disease have severely enlarged dorsal root ganglia with dysfunctional perfusion. This may be due to glycolipid accumulation in the dorsal root ganglia mediating direct neurotoxic effects and decreased neuronal blood supply. These alterations were less pronounced in peripheral nerve segments. Thus, the dorsal root ganglion might play a key pathophysiologic role in the development of neuropathy and pain in Fabry disease. (Source: Neurology)
Source: Neurology - September 18, 2017 Category: Neurology Authors: Godel, T., Bäumer, P., Pham, M., Köhn, A., Muschol, N., Kronlage, M., Kollmer, J., Heiland, S., Bendszus, M., Mautner, V.-F. Tags: MRI, Metabolic disease (inherited), Peripheral neuropathy, Neuropathic pain ARTICLE Source Type: research
MRI substrates of sustained attention system and cognitive impairment in pediatric MS patients
Conclusions:
Our results suggest that the age-expected level of sustained attention system functional competence is achieved in patients with pediatric MS. Inefficient regulation of the functional interaction between different areas of this system, due to abnormal white matter integrity, may result in global cognitive impairment in these patients. (Source: Neurology)
Source: Neurology - September 18, 2017 Category: Neurology Authors: De Meo, E., Moiola, L., Ghezzi, A., Veggiotti, P., Capra, R., Amato, M. P., Pagani, E., Fiorino, A., Pippolo, L., Pera, M. C., Comi, G., Falini, A., Filippi, M., Rocca, M. A. Tags: MRI, fMRI, Multiple sclerosis ARTICLE Source Type: research
Cognition and gray and white matter characteristics of presymptomatic C9orf72 repeat expansion
Conclusions:
This study demonstrates that a decline in cognitive functioning, white matter integrity, and gray matter volumes are present in presymptomatic C9orf72RE carriers. These findings suggest that neuropsychological assessment, T1-weighted MRI, and diffusion tensor imaging might be useful to identify early biomarkers in the presymptomatic stage of FTD or amyotrophic lateral sclerosis. (Source: Neurology)
Source: Neurology - September 18, 2017 Category: Neurology Authors: Papma, J. M., Jiskoot, L. C., Panman, J. L., Dopper, E. G., den Heijer, T., Donker Kaat, L., Pijnenburg, Y. A. L., Meeter, L. H., van Minkelen, R., Rombouts, S. A. R. B., van Swieten, J. C. Tags: DWI, Volumetric MRI, Frontotemporal dementia ARTICLE Source Type: research
Effect of simvastatin on CSF Alzheimer disease biomarkers in cognitively normal adults
Conclusions:
Simvastatin-related reductions in CSF p-tau181 concentrations may be modulated by LDL cholesterol. The potential disease-modifying effects of simvastatin on CSF phospho-tau should be further investigated in persons with hypercholesterolemia. (Source: Neurology)
Source: Neurology - September 18, 2017 Category: Neurology Authors: Li, G., Mayer, C. L., Morelli, D., Millard, S. P., Raskind, W. H., Petrie, E. C., Cherrier, M., Fagan, A. M., Raskind, M. A., Peskind, E. R. Tags: Clinical trials Randomized controlled (CONSORT agreement), Alzheimer's disease ARTICLE Source Type: research
