Preventing multiple sclerosis: To (take) vitamin D or not to (take) vitamin D?
Over 2 million persons worldwide have multiple sclerosis (MS),1 and the burden of the disease for affected individuals and society is substantial. A recent study estimated that by 2031, 133,635 Canadians would be living with MS, and that the direct costs of their care would reach a staggering $2 billion annually.2 Therefore, identifying modifiable risk factors for MS remains vitally important. Researchers still seek to firmly demonstrate a causal role for vitamin D, a biologically plausible etiologic factor which is modifiable. Vitamin D receptors are ubiquitous, being expressed on immune cells and in the CNS; immune respo...
Source: Neurology - October 9, 2017 Category: Neurology Authors: Marrie, R. A., Beck, C. A. Tags: Multiple sclerosis, Case control studies, Risk factors in epidemiology EDITORIALS Source Type: research

Some light in the shadows of atrial fibrillation and stroke: To look or not to look
In ischemic stroke, the diagnostic workup determines the best preventive strategy. However, cryptogenic stroke accounts for about 20%–40% of all strokes.1 For these patients, the best preventive treatment remains unknown, and most guidelines recommend risk factor modification and antiplatelet therapy. Given the substantial recurrence rate for cryptogenic stroke, this is not a comfortable situation: just try to tell your stroke patients, "After all these tests, I do not have any clue why you had a stroke"; and about the treatment, "Just take an aspirin and cross fingers you do not have another one."...
Source: Neurology - October 9, 2017 Category: Neurology Authors: Ustrell, X., Tagawa, M. Tags: Stroke prevention, All Cerebrovascular disease/Stroke, Cardiac, Embolism EDITORIALS Source Type: research

Spotlight on the October 10 issue
(Source: Neurology)
Source: Neurology - October 9, 2017 Category: Neurology Authors: Gross, R. A. Tags: IN FOCUS Source Type: research

Teaching NeuroImages: Spinocerebellar ataxia type 3 presenting with a cock-walk gait phenotype
A 22-year-old woman presented with a 4-year history of progressive gait disturbance and slurred speech. Examination disclosed ataxia, nystagmus, pyramidal signs, bradykinesia, and feet dystonia with a cock-walk gait pattern (video at Neurology.org). There was no weakness of ankle dorsiflexion or plantar flexion. Family history was remarkable for ataxia. MRI showed mild pontocerebellar atrophy (figure). Genetic testing confirmed spinocerebellar ataxia type 3 (SCA3; 34/77 alleles). There were poor responses to levodopa, anticholinergic drugs, and botulinum toxin. (Source: Neurology)
Source: Neurology - October 9, 2017 Category: Neurology Authors: Rocha, E., Vale, T. C., Kok, F., Pedroso, J. L., Barsottini, O. G. Tags: Gait disorders/ataxia, Botulinum toxin, Basal ganglia RESIDENT AND FELLOW SECTION Source Type: research

Teaching NeuroImages: Giant cell arteritis presenting with acute ischemic strokes due to diffuse intracranial stenoses
A 72-year-old woman with unremarkable medical history was admitted with acute ischemic strokes (AIS) in multiple arterial distributions in anterior and posterior circulation (figure 1A and supplemental data at Neurology.org). Elevated erythrocyte sedimentation rate (98 mm/h) prompted the evaluation of superficial temporal arteries (STA) with duplex sonography (halo sign; figure 1B) and contrast angiography (right STA [figure 2A] and multiple intracranial arterial stenoses [figure 2, A–D]). STA biopsy confirmed the diagnosis of giant cell arteritis (GCA; figure 1, C and D). (Source: Neurology)
Source: Neurology - October 9, 2017 Category: Neurology Authors: Kargiotis, O., Safouris, A., Petrou, V. N., Magoufis, G., Stamboulis, E., Tsivgoulis, G. Tags: MRI, Ultrasound, Vasculitis, All Cerebrovascular disease/Stroke RESIDENT AND FELLOW SECTION Source Type: research

Teaching NeuroImages: Interferon-induced psoriasis flare in a multiple sclerosis case remits with dimethyl fumarate
A 26-year-old woman with a history of psoriasis diagnosed with relapsing-remitting multiple sclerosis (Expanded Disability Status Scale score 1) received SC interferon β-1a as first-line treatment. Interferon was discontinued 4 months later, following a dramatic psoriasis flare with plaques in upper and lower extremities (figure, A–C) and manifestation of Koebner phenomenon along abdominal injection sites (figure, C). Switch to oral dimethyl fumarate (DMF) resulted in complete remission within 14 months (figure, D–F), and the patient remained relapse-free for the last 3 years under DMF treatment. Our case ...
Source: Neurology - October 9, 2017 Category: Neurology Authors: Tsivgoulis, G., Papadimitropoulos, G. N., Katsanos, A. H., Zompola, C., Safouris, A., Kargiotis, O., Voumvourakis, K. Tags: Autoimmune diseases, Multiple sclerosis RESIDENT AND FELLOW SECTION Source Type: research

Clinical Reasoning: A 55-year-old man with rapidly progressive dementia and parkinsonism
A 55-year-old right-handed man presented with a history of rapidly progressive apathy and behavior changes, speech loss, bladder and bowel incontinence, and gait loss in the previous month. He had been diagnosed with depression 7 months before and tried to commit suicide with carbon monoxide poisoning 2 months before, needing treatment in a hyperbaric chamber, with a good recovery. He had no history of other comorbidities and an unremarkable family history. At the first neurologic evaluation at our department, he presented with marked apathy and mutism, pseudobulbar affect, marked frontal release signs, generalized rigidit...
Source: Neurology - October 9, 2017 Category: Neurology Authors: Tabuas-Pereira, M., Santana, I., Santo, G. C. Tags: Parkinson's disease/Parkinsonism, Executive function, All Cognitive Disorders/Dementia, Assessment of cognitive disorders/dementia RESIDENT AND FELLOW SECTION Source Type: research

Author response: Prolonged sleep duration as a marker of early neurodegeneration predicting incident dementia
We thank Dr. Munakomi for the letter regarding our recent article on prolonged sleep duration as a potential marker of early-onset neurodegeneration and subsequent dementia.1 We agree it is important to unpack the associations between sleep and Alzheimer disease (AD). The fascinating study by Xie et al.2 demonstrated that the rate of β-amyloid clearance is increased during sleep. However, the role of REM sleep or sleep hygiene in the neurodegenerative process is unclear. In the experiments of Xie et al.,2 sleep was characterized by an increased prevalence of delta wave activity, typical of deep sleep as compared with ...
Source: Neurology - October 2, 2017 Category: Neurology Authors: Pase, M. P., Westwood, A. J., Beiser, A., Jain, N., DeCarli, C., Himali, J. J., Auerbach, S. H., Seshadri, S. Tags: WRITECLICK & amp;reg; EDITOR ' S CHOICE Source Type: research

Letter re: Prolonged sleep duration as a marker of early neurodegeneration predicting incident dementia
I read with interest the article by Westwood et al.,1 which implicated prolonged sleep duration as a potential marker of early-onset neurodegeneration and subsequent dementia. There is possibly a pivotal role of fragmented, and thereby disturbed, sleep hygiene in patients with obstructive sleep apnea. These patients spend minimal time of their sleep in the REM phase, which is crucial for clearance of metabolic waste, especially β-amyloid plagues, through the paravascular pathways in the brain.2 This is accountable for early neurodegenerative processes. Further studies monitoring total time spent in each phase of sleep...
Source: Neurology - October 2, 2017 Category: Neurology Authors: Munakomi, S. Tags: WRITECLICK & amp;reg; EDITOR ' S CHOICE Source Type: research

Author response: Prolonged sleep duration as a marker of early neurodegeneration predicting incident dementia
We thank Liguori et al. for the interest in our article, which demonstrated an association between long sleep duration and incident dementia.1 We did not examine the underlying mechanisms; these require investigation. (Source: Neurology)
Source: Neurology - October 2, 2017 Category: Neurology Authors: Pase, M. P., Seshadri, S. Tags: WRITECLICK & amp;reg; EDITOR ' S CHOICE Source Type: research

Letter re: Prolonged sleep duration as a marker of early neurodegeneration predicting incident dementia
Westwood et al.1 demonstrated that long sleep duration could represent a marker of early neurodegeneration leading to dementia. There is evidence of an interplay between sleep and cognition.2 In particular, sleep disturbances are related to the occurrence of dementia by altering brain processes active during sleep.2 The observation by Westwood et al. adds to the literature on sleep and neurodegeneration.3 However, the absence of polysomnographic recordings leaves an unresolved question: why are neurodegenerative processes promoted by long sleep duration? (Source: Neurology)
Source: Neurology - October 2, 2017 Category: Neurology Authors: Liguori, C., Izzi, F., Mercuri, N. B., Placidi, F. Tags: WRITECLICK & amp;reg; EDITOR ' S CHOICE Source Type: research

Editors' Note
: In "Prolonged sleep duration as a marker of early neurodegeneration predicting incident dementia," Westwood et al. found an association between long sleep duration and incident dementia. Liguori et al. propose obstructive sleep apnea (OSA) as a possible link between increased sleep duration and neurodegeneration. (Source: Neurology)
Source: Neurology - October 2, 2017 Category: Neurology Authors: Alcauskas, M., Galetta, S. Tags: WRITECLICK & amp;reg; EDITOR ' S CHOICE Source Type: research

Serpiginous cranial arterial calcification in uremia
A 65-year-old man with chronic kidney disease (CKD) on hemodialysis presented with a subcortical stroke. Unenhanced CT scan of the brain revealed widespread arterial calcification, notably involving the carotid siphons (figure 1) and external carotid artery branches (figure 2, A and B). Vascular calcification in CKD closely resembles ossification, and may involve the intima (as in atherosclerosis) or more commonly the media.1 Both patterns of calcification are associated with increased cardiovascular mortality, though no specific treatment has been shown to modify this risk.2 This example is particularly striking for the s...
Source: Neurology - October 2, 2017 Category: Neurology Authors: Shamy, M. C., Yogendrakumar, V., Iancu, D., Bourque, P. R. Tags: CT, All Medical/Systemic disease, All Cerebrovascular disease/Stroke NEUROIMAGES Source Type: research

Spinal epidural gas mimicking lumbar disc herniation
A 73-year-old woman presented with acute lower back pain and right sensory radicular L4 syndrome. Spinal MRI showed a cranially shifted T2-hypointense mass suspicious for disc herniation in the L3/4 segment with compression of the right nerve root L4 (figure 1). Due to atypical morphology, CT was performed and disclosed an intraspinal epidural gas bubble mimicking disc herniation on MRI (figure 2). In association with coexisting intravertebral vacuum disc phenomenon (figure 2B), it appears likely that the gas gained access to the epidural space after annulus fibrosus rupture.1 Vacuum disc phenomenon results from the accumu...
Source: Neurology - October 2, 2017 Category: Neurology Authors: Hassler, E., Gattringer, T., Wiesspeiner, U., Deutschmann, H., Fazekas, F. Tags: CT, MRI, Disc disease NEUROIMAGES Source Type: research

Procoagulant imbalance in premenopausal women with chronic migraine
Migraine has been associated with an increased risk for stroke, especially in young women.1 Among the pathophysiologic mechanisms linking migraine and stroke, coagulation abnormalities have been regarded as a logical link.2 (Source: Neurology)
Source: Neurology - October 2, 2017 Category: Neurology Authors: Ferroni, P., Barbanti, P., Aurilia, C., Egeo, G., Fofi, L., La Farina, F., Valente, M. G., De Marchis, M. L., Spila, A., Palmirotta, R., Della-Morte, D., Guadagni, F. Tags: CLINICAL/SCIENTIFIC NOTES Source Type: research

Neurologic complications of sickle cell disease in Africa: A systematic review and meta-analysis
Conclusions: The burden of neurologic complications of SCD is important in Africa and most likely underestimated. A better evaluation of this burden requires larger prospective studies using standard up-to-date screening methods. Accessibility to diagnostic tools such as neuroimaging, transcranial Doppler, EEG, and neuropsychological evaluation, as well as to preventive and therapeutic interventions and trained health care providers, should be improved in routine clinical practice. (Source: Neurology)
Source: Neurology - October 2, 2017 Category: Neurology Authors: Noubiap, J. J., Mengnjo, M. K., Nicastro, N., Kamtchum-Tatuene, J. Tags: VIEWS & amp;amp; REVIEWS Source Type: research

Reducing placebo exposure in trials: Considerations from the Research Roundtable in Epilepsy
The randomized controlled trial is the unequivocal gold standard for demonstrating clinical efficacy and safety of investigational therapies. Recently there have been concerns raised about prolonged exposure to placebo and ineffective therapy during the course of an add-on regulatory trial for new antiepileptic drug approval (typically ~6 months in duration), due to the potential risks of continued uncontrolled epilepsy for that period. The first meeting of the Research Roundtable in Epilepsy on May 19–20, 2016, focused on "Reducing placebo exposure in epilepsy clinical trials," with a goal of considering n...
Source: Neurology - October 2, 2017 Category: Neurology Authors: Fureman, B. E., Friedman, D., Baulac, M., Glauser, T., Moreno, J., Dixon-Salazar, T., Bagiella, E., Connor, J., Ferry, J., Farrell, K., Fountain, N. B., French, J. A. Tags: Clinical trials Randomized controlled (CONSORT agreement), Clinical trials Methodology/study design, All Epilepsy/Seizures, Antiepileptic drugs, All Ethics in Neurology/Legal issues CONTEMPORARY ISSUES Source Type: research

Functional impairments for outcomes in a randomized trial of unruptured brain AVMs
Objective: To investigate the effects of medical vs interventional management on functional outcome in A Randomized Trial of Unruptured Brain Arteriovenous Malformations (ARUBA). Methods: We used the initial results of a nonblinded, randomized, controlled, parallel-group trial involving adults ≥18 years of age with an unruptured brain arteriovenous malformation (AVM) to compare the effects of medical management (MM) with or without interventional therapy (IT) on functional impairment, defined by a primary outcome of death or symptomatic stroke causing modified Rankin Scale (mRS) score ≥2. ARUBA closed recruitment on...
Source: Neurology - October 2, 2017 Category: Neurology Authors: Mohr, J. P., Overbey, J. R., von Kummer, R., Stefani, M. A., Libman, R., Stapf, C., Parides, M. K., Pile-Spellman, J., Moquete, E., Moy, C. S., Vicaut, E., Moskowitz, A. J., Harkness, K., Cordonnier, C., Biondi, A., Houdart, E., Berkefeld, J., Klijn, C. J Tags: All Clinical trials, All Cerebrovascular disease/Stroke, Arteriovenous malformation, Class II, Intracerebral hemorrhage ARTICLE Source Type: research

Amyloid-PET in sporadic cerebral amyloid angiopathy: A diagnostic accuracy meta-analysis
Conclusions: Amyloid-PET appears to have moderate to good diagnostic accuracy in differentiating patients with probable CAA from cognitively normal healthy controls or patients with deep ICH. Given that amyloid-PET labels both cerebrovascular and parenchymal amyloid, a negative scan might be useful to rule out CAA in the appropriate clinical setting. (Source: Neurology)
Source: Neurology - October 2, 2017 Category: Neurology Authors: Charidimou, A., Farid, K., Baron, J.-C. Tags: MRI, PET, Intracerebral hemorrhage ARTICLE Source Type: research

Causal inference methods to study gastric tube use in amyotrophic lateral sclerosis
Objective: To estimate effects of gastric tube (G-tube) on survival and quality of life (QOL) in people with amyotrophic lateral sclerosis (ALS) correcting for confounding by indication inherent in nonrandomized observational data. Methods: To complement a recent causal inference analysis, which concluded that G-tube placement increases the hazard of death, permanent assisted ventilation, or tracheostomy by 28%, we fit causal inference models on a different sample of 481 patients with ALS enrolled in a recent clinical trial of ceftriaxone. Forward selection identified predictors of G-tube placement. Effects of G-tube on s...
Source: Neurology - October 2, 2017 Category: Neurology Authors: McDonnell, E., Schoenfeld, D., Paganoni, S., Atassi, N. Tags: Quality of life, Amyotrophic lateral sclerosis, Class III, All epidemiology, Palliative care ARTICLE Source Type: research

Long-term risk of seizures in adult survivors of sepsis
Conclusions: We found that survivors of sepsis faced a significantly higher long-term risk of seizures than both the general population and other hospitalized patients. Our findings suggest that sepsis is associated with pathways that lead to permanent neurologic sequelae. (Source: Neurology)
Source: Neurology - October 2, 2017 Category: Neurology Authors: Reznik, M. E., Merkler, A. E., Mahta, A., Murthy, S. B., Claassen, J., Kamel, H. Tags: All Infections, All Medical/Systemic disease, Risk factors in epidemiology, All Epilepsy/Seizures ARTICLE Source Type: research

Antibody-associated CNS syndromes without signs of inflammation in the elderly
Conclusions: In patients ≥60 years of age, the correct identification of characteristic CNS syndromes (FBDS, anti-IgLON5 syndrome, AE) should prompt antibody testing even without evidence of inflammation in MRI and CSF studies. Up to 15% of the patients developed rapidly progressive cognitive deterioration, which further complicated the differential diagnosis with a neurodegenerative disorder. (Source: Neurology)
Source: Neurology - October 2, 2017 Category: Neurology Authors: Escudero, D., Guasp, M., Arino, H., Gaig, C., Martinez-Hernandez, E., Dalmau, J., Graus, F. Tags: Autoimmune diseases, Encephalitis, All Clinical Neurology, All Epilepsy/Seizures ARTICLE Source Type: research

Subjective memory complaints in preclinical autosomal dominant Alzheimer disease
We examined self-reported and study partner–based SMC in 52 young, cognitively unimpaired individuals from a Colombian kindred with early-onset ADAD. Twenty-six carried the PSEN-1 E280A mutation, averaging 7 years of age younger than the kindred's expected clinical onset. Twenty-six were age-matched noncarriers. Participants also underwent structural MRI and cognitive testing. Results: Self-reported SMC were greater in carriers than noncarriers (p = 0.02). Study partner–based SMC did not differ between groups (p = 0.21), but in carriers increased with age (r = 0.66, p
Source: Neurology - October 2, 2017 Category: Neurology Authors: Norton, D. J., Amariglio, R., Protas, H., Chen, K., Aguirre-Acevedo, D. C., Pulsifer, B., Castrillon, G., Tirado, V., Munoz, C., Tariot, P., Langbaum, J. B., Reiman, E. M., Lopera, F., Sperling, R. A., Quiroz, Y. T. Tags: Alzheimer's disease, Cognitive aging, Assessment of cognitive disorders/dementia ARTICLE Source Type: research

Polycystic kidney disease is significantly associated with dementia risk
Conclusions: In clinical practice, health care professionals should be aware of the risk of neurodegenerative diseases in patients with PKD. (Source: Neurology)
Source: Neurology - October 2, 2017 Category: Neurology Authors: Yu, T.-M., Chuang, Y.-W., Sun, K.-T., Yu, M.-C., Kung, S.-C., Lee, B. K., Huang, S.-T., Chen, C.-H., Lin, C.-L., Kao, C.-H. Tags: All Cognitive Disorders/Dementia, Parkinson's disease with dementia, Cohort studies, Risk factors in epidemiology ARTICLE Source Type: research

A predictive model to identify Parkinson disease from administrative claims data
Conclusions: Using only demographic data and selected diagnosis and procedure codes readily available in administrative claims data, it is possible to identify individuals with a high probability of eventually being diagnosed with PD. (Source: Neurology)
Source: Neurology - October 2, 2017 Category: Neurology Authors: Searles Nielsen, S., Warden, M. N., Camacho-Soto, A., Willis, A. W., Wright, B. A., Racette, B. A. Tags: Parkinson's disease/Parkinsonism, Case control studies ARTICLE Source Type: research

Olfaction and incident Parkinson disease in US white and black older adults
Objective: To investigate olfaction in relation to incident Parkinson disease (PD) in US white and black older adults. Methods: The study included 1,510 white (mean age 75.6 years) and 952 black (75.4 years) participants of the Health, Aging, and Body Composition study. We evaluated the olfaction of study participants with the Brief Smell Identification Test (BSIT) in 1999–2000. We retrospectively adjudicated PD cases identified through August 31, 2012, using multiple data sources. We used multivariable Cox models to estimate hazard ratios (HRs) and 95% confidence intervals (CIs). Results: During an average of 9.8 ...
Source: Neurology - October 2, 2017 Category: Neurology Authors: Chen, H., Shrestha, S., Huang, X., Jain, S., Guo, X., Tranah, G. J., Garcia, M. E., Satterfield, S., Phillips, C., Harris, T. B., For the Health ABC Study Tags: Parkinson's disease/Parkinsonism ARTICLE Source Type: research

Sickle cell disease and the unmet challenges of neurologic complications
Sometimes an important scientific report is more notable for what it cannot tell us than for what it can. In this issue of Neurology®, Noubiap and colleagues1 provide a comprehensive, well-conducted systematic meta-analysis of the neurologic complications of sickle cell disease (SCD) that incorporates rigorous design and advanced analytic methods to delineate in substantial detail what is known about the prevalence of neurologic injury among people with SCD in Africa—where over half the world's population of people with SCD reside. As one might expect, based upon what is known from more medically developed region...
Source: Neurology - October 2, 2017 Category: Neurology Authors: Birbeck, G. L., Green, R. Tags: EDITORIALS Source Type: research

Amyloid-PET in cerebral amyloid angiopathy: Detecting vascular amyloid deposits, not just blood
Sporadic cerebral amyloid angiopathy (CAA) is a common age-related cerebral small vessel disease characterized by progressive deposition of amyloidal protein made up of (with rare exception) amyloid-β (Aβ) in the media and adventitia of cortical and leptomeningeal vessels.1 Lobar intracerebral hemorrhage (ICH) represents a late, often devastating manifestation of the disease, leading to high mortality, poor functional outcome, and dementia. Definite CAA diagnosis requires a full postmortem neuropathologic examination. However, brain MRI can help to diagnose CAA during life by detecting hemorrhagic lesions such as...
Source: Neurology - October 2, 2017 Category: Neurology Authors: Raposo, N., Sonnen, J. A. Tags: EDITORIALS Source Type: research

The yin and yang of gastrostomy in the management of ALS: Friend or foe?
Though we do not yet have a cure for amyotrophic lateral sclerosis (ALS), we can provide treatment, and the host of medical and other interventions provided by ALS specialists and multidisciplinary care teams increases survival and substantially improves quality of life for patients and their families. Dysphagia is one of the most consequential symptoms in ALS, and ultimately affects the majority of patients. It causes dehydration, weight loss, choking, and chronic aspiration, which substantially increase the risk of potentially fatal aspiration pneumonia. Weight loss alone worsens progression and survival in ALS,1 pr...
Source: Neurology - October 2, 2017 Category: Neurology Authors: de Carvalho, M., Gooch, C. L. Tags: EDITORIALS Source Type: research

Biomarkers for early detection of Parkinson disease: A scent of consistency with olfactory dysfunction
There are approximately 1,000 genes involved in odor recognition and 347 that code for functional receptors. This enables our distinguishing of approximately 4,000–10,000 distinct odorous ligands, a scientific discovery that earned a Nobel Prize in 2004.1 The olfactory nerve (CN1) contains 6–10 million receptor cells whose ciliated dendrites and cell bodies are contained within a specialized (neuro)epithelium located within the posterior nasal cavity (figure).2 These olfactory receptor cells are interspersed with sustentacular cells for stability of the epithelium and basal cells (stem cells) that provide a reg...
Source: Neurology - October 2, 2017 Category: Neurology Authors: Bowman, G. L. Tags: EDITORIALS Source Type: research

Spotlight on the October 3 issue
(Source: Neurology)
Source: Neurology - October 2, 2017 Category: Neurology Authors: Gross, R. A. Tags: IN FOCUS Source Type: research

Teaching Video NeuroImages: Palsy of conjugate horizontal gaze and face due to isolated abducens nuclear infarction
A 58-year-old woman presented leftward conjugate gaze palsy and left facial nerve palsy of a peripheral pattern due to acute infarction restricted to the area of left abducens nucleus (figure, A–C; video at Neurology.org). (Source: Neurology)
Source: Neurology - October 2, 2017 Category: Neurology Authors: Kim, J.-S., Jeong, S.-H., Choi, J.-Y., Kim, H.-J. Tags: Peripheral neuropathy, Ocular motility, Diplopia (double vision), Infarction RESIDENT AND FELLOW SECTION Source Type: research

Teaching Video NeuroImages: Spastic ataxia syndrome: The Friedreich-like phenotype of ARSACS
A 24-year-old Chilean man with slowly progressive ataxia since age 2 presented with spastic ataxia, hyperreflexia, pes cavus, axonal polyneuropathy, incomplete right-bundle branch block on ECG, and impaired glucose tolerance test, suggesting Friedreich ataxia (figure; video at Neurology.org). However, the combination of hyperreflexia and cerebellar (rather than cervical cord) atrophy with T2-weighted linear hypointensity in the pons on brain MRI suggested autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Biallelic mutations were found (c.4492C>T p.[R1498X] and c.2388dupA p.[L797Ifs*4]) in the SACS gene...
Source: Neurology - October 2, 2017 Category: Neurology Authors: Saffie, P., Kauffman, M. A., Fernandez, J. M., Acosta, I., Espay, A. J., de la Cerda, A. Tags: All Clinical Neurology, Gait disorders/ataxia RESIDENT AND FELLOW SECTION Source Type: research

Teaching NeuroImages: Typical neuroimaging features in high-altitude cerebral edema
A 61-year-old man presented with thunderclap headache followed by loss of consciousness, 2 days after arriving in Atacama Desert, Andes Mountains, Chile, at 4,000 meters. Examination showed coma. Mechanical ventilation was necessary. He had progressive improvement after transfer to low altitudes. Brain MRI showed diffuse vasogenic edema and microhemorrhages (figure), and high-altitude cerebral edema (HACE) was diagnosed. (Source: Neurology)
Source: Neurology - October 2, 2017 Category: Neurology Authors: Marussi, V. H. R., Pedroso, J. L., Piccolo, A. M., Barsottini, O. G., Moraes, F. M. d., Oliveira, A. S. B., Freitas, L. F., Amaral, L. L. F. d. Tags: MRI, Other cerebrovascular disease/ Stroke, All Clinical Neurology RESIDENT AND FELLOW SECTION Source Type: research

Teaching NeuroImages: Rare cause of Horner syndrome in Loeys-Dietz syndrome
A 36-year-old woman with Loeys-Dietz syndrome presented with left eye ptosis, anisocoria, and shoulder pain. The diagnosis of left-sided Horner syndrome was made (figure 1). The patient had a known left subclavian artery aneurysm with percutaneous stent graft placement. CT angiography revealed a large left subclavian aneurysm sac, consistent with endoleak type I (figure 2). Horner syndrome and shoulder pain improved following common carotid to axillary artery bypass in addition to thoracic endovascular aortic repair surgery. (Source: Neurology)
Source: Neurology - October 2, 2017 Category: Neurology Authors: Cho, S.-M., Di Lorenzo, R., Mathew, J., Buletko, A. B. Tags: RESIDENT AND FELLOW SECTION Source Type: research

Teaching NeuroImages: Figure of 8: The clue to the diagnosis of AMPD2 pontocerebellar hypoplasia (PCH9)
A 2-year-old girl, born after uneventful pregnancy from healthy nonconsanguineous parents, presented with failure to thrive, microcephaly, facial dysmorphism, strabismus, nystagmus, axial hypotonia, lower limb spasticity/hyperreflexia, dystonic movements, and no active postures. Since the first months of life, developmental delay without any motor skills acquisition, drug-resistant epilepsy, and progressive spasticity had emerged. Neuroimaging revealed pontocerebellar hypoplasia with the figure of 8 midbrain appearance (figure), a distinctive sign for PCH8 or AMPD2 deficiency.1,2 Sanger sequencing of the adenosine monophos...
Source: Neurology - October 2, 2017 Category: Neurology Authors: Severino, M., Zara, F., Rossi, A., Striano, P. Tags: MRI, All Clinical Neurology, All Pediatric, All Genetics RESIDENT AND FELLOW SECTION Source Type: research

White matter microstructure, cognition, and molecular markers in fragile X premutation females
(Source: Neurology)
Source: Neurology - September 25, 2017 Category: Neurology Tags: CORRECTIONS Source Type: research

Author response: Physician-assisted death in chronic neurologic diseases
We thank Dr. Bier for the correction that the law in Belgium allows only active euthanasia and not physician-assisted death (PAD). Our statement remains true that, in the Netherlands, where both activities are lawful, active euthanasia is more commonly practiced than PAD.1 (Source: Neurology)
Source: Neurology - September 25, 2017 Category: Neurology Authors: Bernat, J. L., McQuillen, M. P. Tags: WRITECLICK & amp;reg; EDITOR ' S CHOICE Source Type: research

Author response: High hypothetical interest in physician-assisted death in multiple sclerosis
We appreciate Dr. Masdeu's interest in our article,1 and Dr. Sethi's comments on our article and the related editorial by Drs. Bernat and McQuillen.2 (Source: Neurology)
Source: Neurology - September 25, 2017 Category: Neurology Authors: Marrie, R. A., Salter, A., Tyry, T., Cutter, G. R., Fox, R. J. Tags: WRITECLICK & amp;reg; EDITOR ' S CHOICE Source Type: research

Letter re: High hypothetical interest in physician-assisted death in multiple sclerosis and Physician-assisted death in chronic neurologic diseases
I read with interest the editorial by Drs. Bernat and McQuillen,1 accompanying the article by Marrie et al.2 I share some of the concerns highlighted in the editorial, but want to highlight the other side of the argument. (Source: Neurology)
Source: Neurology - September 25, 2017 Category: Neurology Authors: Sethi, N. K. Tags: WRITECLICK & amp;reg; EDITOR ' S CHOICE Source Type: research

Letter re: Physician-assisted death in chronic neurologic diseases
I read with interest the editorial by Drs. Bernat and McQuillen1 on physician-assisted death (PAD) in chronic neurologic disease. I fully support their view that "physicians have a concurrent duty to respect our patients' liberty-based right to determine themselves what constitutes their best outcome." However, it is important to remember that, among legislative criteria granting the right to practice PAD, there are 4 requirements: requests must be voluntary, persistent, well-thought, and well-informed.2 Also, and perhaps more importantly, I do not agree that in the Netherlands and Belgium "voluntary active ...
Source: Neurology - September 25, 2017 Category: Neurology Authors: Bier, J.-C. Tags: WRITECLICK & amp;reg; EDITOR ' S CHOICE Source Type: research

Letter re: High hypothetical interest in physician-assisted death in multiple sclerosis
Reading the article by Marrie et al.1 reminded me of Leo Alexander's horrifying report, which was published as the lead article in a 1949 issue of the New England Journal of Medicine (NEJM).2 As an expert at the Nuremberg trial, Alexander carefully reviewed the extensive medical records left behind by the Nazi regime. In the NEJM article,2 he mentioned one of the Nazi propaganda movies, I Accuse, which depicted the life history of a woman with multiple sclerosis. In the movie, the woman's husband, a doctor, finally kills her to the accompaniment of soft piano music rendered by a sympathetic colleague in an adjoining room. ...
Source: Neurology - September 25, 2017 Category: Neurology Authors: Masdeu, J. C. Tags: WRITECLICK & amp;reg; EDITOR ' S CHOICE Source Type: research

Editors' Note
: In the article "High hypothetical interest in physician-assisted death in multiple sclerosis," the opinions of persons with multiple sclerosis (MS) regarding physician-assisted death (PAD) were assessed. Investigators surveyed participants in the North American Research Committee on Multiple Sclerosis Registry regarding PAD. (Source: Neurology)
Source: Neurology - September 25, 2017 Category: Neurology Authors: Karam, C., Griggs, R. C. Tags: WRITECLICK & amp;reg; EDITOR ' S CHOICE Source Type: research

Benefit of dual-energy CT iodine overlay technique for T1-hyperintense brain lesion
A 47-year-old woman was admitted for radiation therapy of a left frontal glioblastoma, resected 2 months prior. On enhanced MRI, it was difficult to identify the tumor enhancement due to intrinsic T1 hyperintensity, possibly related to postoperative hemorrhage1 (figure, A–C). However, the iodine overlay image derived from the dual-energy CT technique (figure, D) was revealing: subsequent surgical resection confirmed residual tumor cells along the region that showed the elevated iodine concentration (figure, E). The dual-energy CT iodine overlay technique may be particularly useful in the evaluation of a T1-hyperinten...
Source: Neurology - September 25, 2017 Category: Neurology Authors: Lee, Y., Seo, H. S., Je, B.-K., Kim, S.-D., Oh, H. E. Tags: CT, MRI, Clinical neurology history, Primary brain tumor, Surgical therapy-tumor NEUROIMAGES Source Type: research

Abdominal tremor in thyrotoxicosis
Hyperthyroidism is a common medical condition in the general population and neurologic symptoms can be the first presentation. Neurologic manifestations include cognitive abnormalities and seizures, movement disorders such as chorea and tremors, and peripheral nervous system conditions including myopathy and neuropathy. Tremor, usually limb tremor, has been observed in 78% of patients with thyrotoxicosis.1 Here we report isolated abdominal tremor, reminiscent but different from belly dancer’s dyskinesia, in a patient with thyrotoxicosis. (Source: Neurology)
Source: Neurology - September 25, 2017 Category: Neurology Authors: Kelly, D. M., Lynch, T., Casserly, L. F. Tags: Endocrine, Tremor CLINICAL/SCIENTIFIC NOTES Source Type: research

Thalamic deep brain stimulation for tremor in Parkinson disease, essential tremor, and dystonia
Conclusions: VIM DBS is an effective long-term (beyond 10 years) treatment for tremor in PD and ET. Effects on dystonic tremor were modest and transient. Classification of evidence: This provides Class IV evidence. It is an observational study. (Source: Neurology)
Source: Neurology - September 25, 2017 Category: Neurology Authors: Cury, R. G., Fraix, V., Castrioto, A., Perez Fernandez, M. A., Krack, P., Chabardes, S., Seigneuret, E., Alho, E. J. L., Benabid, A.-L., Moro, E. Tags: Dystonia, Parkinson's disease/Parkinsonism, Tremor, Surgery/Stimulation ARTICLE Source Type: research

Association of intracranial aneurysm rupture with smoking duration, intensity, and cessation
Conclusions: Current cigarette smoking, smoking intensity, and smoking duration are significantly associated with ruptured IAs at presentation. However, the significantly increased risk persists after smoking cessation, and smoking cessation does not confer a reduced risk of aneurysmal subarachnoid hemorrhage beyond that of reducing the cumulative dose. (Source: Neurology)
Source: Neurology - September 25, 2017 Category: Neurology Authors: Can, A., Castro, V. M., Ozdemir, Y. H., Dagen, S., Yu, S., Dligach, D., Finan, S., Gainer, V., Shadick, N. A., Murphy, S., Cai, T., Savova, G., Dammers, R., Weiss, S. T., Du, R. Tags: All Cerebrovascular disease/Stroke, Subarachnoid hemorrhage ARTICLE Source Type: research

Comment: Capacity, consent, and country in acute stroke research
As a general principle, any research involving humans requires voluntary participation based on informed consent.1 This also applies to enrollment in clinical trials und usually requires participants to give written informed consent after having received detailed information about potential benefits and risks as well as alternative treatment options, and after having had adequate time for consideration. Trials in acute stroke, however, present several challenges to this approach. Reperfusion therapies in acute stroke show a clear time-dependent effect, being more effective the earlier treatment is started, or reperfusion a...
Source: Neurology - September 25, 2017 Category: Neurology Authors: Chen, D. T., Worrall, B. B. Tags: ARTICLE Source Type: research

Effect of informed consent on patient characteristics in a stroke thrombolysis trial
Objective: To determine whether the manner of consent, i.e., informed consent by patients themselves or informed consent by proxy, affects clinical characteristics of samples of acute stroke patients enrolled in clinical trials. Methods: We analyzed the manner of obtaining informed consent in the first 1,005 patients from WAKE-UP, an investigator-initiated, randomized, placebo-controlled trial of MRI-based thrombolysis in stroke patients with unknown time of symptom onset running in 6 European countries. Patients providing informed consent by themselves were compared with patients enrolled by proxy consent. Baseline clini...
Source: Neurology - September 25, 2017 Category: Neurology Authors: Thomalla, G., Boutitie, F., Fiebach, J. B., Simonsen, C. Z., Nighoghossian, N., Pedraza, S., Lemmens, R., Roy, P., Muir, K. W., Heesen, C., Ebinger, M., Ford, I., Cheng, B., Cho, T.-H., Puig, J., Thijs, V., Endres, M., Fiehler, J., Gerloff, C. Tags: MRI, All Clinical trials, All Cerebrovascular disease/Stroke, Clinical trials Methodology/study design, All Ethics in Neurology/Legal issues ARTICLE Source Type: research

1H-MRS metabolites and rate of {beta}-amyloid accumulation on serial PET in clinically normal adults
Conclusion: Among CN older adults, early metabolic alterations on 1H-MRS and APOE 4 status are independently associated with an increased rate of Aβ accumulation. Our findings could have important implications for early diagnosis and identification of individuals for secondary prevention trials, because an increased rate of Aβ accumulation in CN older adults may confer a higher risk for cognitive decline and mild cognitive impairment. (Source: Neurology)
Source: Neurology - September 25, 2017 Category: Neurology Authors: Nedelska, Z., Przybelski, S. A., Lesnick, T. G., Schwarz, C. G., Lowe, V. J., Machulda, M. M., Kremers, W. K., Mielke, M. M., Roberts, R. O., Boeve, B. F., Knopman, D. S., Petersen, R. C., Jack, C. R., Kantarci, K. Tags: MRS, Cognitive aging ARTICLE Source Type: research