Mystery Case: Widespread plexiform neurofibromas in neurofibromatosis type 1: An uncommon cause of back pain
A 23-year-old man with known neurofibromatosis type 1 (NF1) presented with low back pain described as a "wringing" sensation, with radiation to both legs and painful spasms upon awakening. Examination was significant for reduced reflexes bilaterally. The figure is a coronal T2-weighted MRI revealing extensive plexiform neurofibromas arising from all lumbosacral nerve roots. Neurofibromas appear as high signal intensity on T2-weighted images due to increased fluid in myelin associated with dysplastic glial proliferation.1 In patients with NF1 presenting with back pain or polyradiculopathy, imaging should be obtained to eval...
Source: Neurology - October 30, 2017 Category: Neurology Authors: Grimsrud, K. W., Porter, A. B. Tags: MRI, Peripheral neuropathy, Nerve tumor, Neuropathic pain, Neurofibromatosis RESIDENT AND FELLOW SECTION Source Type: research
Genetics, white matter, and cognition: The effects of methylation on FMR1
(Source: Neurology)
Source: Neurology - October 23, 2017 Category: Neurology Tags: CORRECTIONS Source Type: research
Author response: Teaching NeuroImages: Acute Parinaud syndrome
We thank Vanikieti et al. for their comments on our NeuroImage.1 (Source: Neurology)
Source: Neurology - October 23, 2017 Category: Neurology Authors: Swinkin, E., Bui, E. Tags: WRITECLICK & amp;reg; EDITOR ' S CHOICE Source Type: research
Letter re: Teaching NeuroImages: Acute Parinaud syndrome
Drs. Swinkin and Bui1 presented a patient with bilateral ptosis, light-near dissociation, impaired vertical eye movements, paresis of superior greater than inferior rectus, and upgaze-induced convergence nystagmus (saccades) from infarction of the bilateral oculomotor nuclei and mesial thalami. They concluded that these findings were consistent with Parinaud syndrome. (Source: Neurology)
Source: Neurology - October 23, 2017 Category: Neurology Authors: Vanikieti, K., Bouffard, M., Gilbert, A., Rizzo, J. Tags: WRITECLICK & amp;reg; EDITOR ' S CHOICE Source Type: research
Author response: Alterations of functional connectivity of the motor cortex in Fabry disease: An RS-fMRI study
We thank Sechi et al. for the comments on our article.1 We agree that investigating the relationship between functional changes and disease course is a core issue for defining the role of functional imaging in both pathophysiology and clinical studies in Fabry disease (FD). The findings of Ortu et al.2 help define the role of the functional connectivity (FC) alterations in patients. Indeed, in their study,2 motor cortex hyperexcitability partly subsided when enzyme replacement therapy was started (although the small number of patients and the incomplete reversal of transcranial magnetic stimulation findings, possibly relat...
Source: Neurology - October 23, 2017 Category: Neurology Authors: Cocozza, S., Pisani, A., Brunetti, A., Quarantelli, M., Tedeschi, E. Tags: WRITECLICK & amp;reg; EDITOR ' S CHOICE Source Type: research
Letter re: Alterations of functional connectivity of the motor cortex in Fabry disease: An RS-fMRI study
Cocozza et al.1 confirmed, by use of resting-state (RS)–fMRI, previous clinical and electrophysiologic studies showing involvement of cerebral motor circuits in Fabry disease (FD), independently of cerebrovascular signs/symptoms and brain MRI lesions.1–3 In particular, they showed alterations of functional connectivity in a polysynaptic motor circuit involving motor cortices, basal ganglia, and right cerebellar hemisphere.1 In metabolic/lysosomal storage diseases, a subclinical CNS impairment is common and may be related, regardless of brain MRI findings, either to a structural irreversible or to a biochemical ...
Source: Neurology - October 23, 2017 Category: Neurology Authors: Sechi, G., Demurtas, R., Boadu, W., Ortu, E. Tags: WRITECLICK & amp;reg; EDITOR ' S CHOICE Source Type: research
Editors' Note
: Motor involvement is not considered a typical feature of Fabry disease (FD). However, recent studies reported slower gait, reduced hand speed, and poorer fine manual dexterity, independently of cerebrovascular symptoms, in patients with FD. To further study alterations in motor circuits of patients with FD, Cocozza et al. used resting-state (RS)–fMRI. (Source: Neurology)
Source: Neurology - October 23, 2017 Category: Neurology Authors: Karam, C., Galetta, S. Tags: WRITECLICK & amp;reg; EDITOR ' S CHOICE Source Type: research
Head flutter
A previously healthy 30-year-old man presented with oscillopsia, involuntary head movements, and imbalance. His examination showed intermittent ocular flutter (OF), bursts of back-to-back horizontal head movements time-locked with OF (head flutter) (figure; video at Neurology.org), and generalized ataxia. Head MRI, paraneoplastic antibody testing, CSF analysis, toxicology and serology panel, and CT of chest/abdomen/pelvis were unrevealing. The patient fully recovered after 6 months with monthly IV immunoglobulin. (Source: Neurology)
Source: Neurology - October 23, 2017 Category: Neurology Authors: Lemos, J., Duque, C., Araujo, R., Castelhano, J., Eggenberger, E., Nunes, C. Tags: Ocular motility VIDEO NEUROIMAGES Source Type: research
Pilocytic astrocytoma with anaplasia arising from the optic chiasm in a very elderly patient
An 81-year-old man presented with a 3-week history of impaired visual acuity (100/200 right eye, 2/200 left eye). He had a central scotoma (left eye) and bitemporal hemianopsia, with no abnormality in the optic discs. Cranial MRI suggested a tumor predominantly located at the optic chiasm and extending to the optic nerves, identified pathologically as pilocytic astrocytoma with anaplasia (PAA) (figure). He received temozolomide (for 14 months) and irradiation, but the tumor eventually extended to the hypothalamus. This unusual case of histologically proven PAA demonstrates an origin from the optic chiasm,1 which is extreme...
Source: Neurology - October 23, 2017 Category: Neurology Authors: Hayashi, S., Akao, N., Nakazato, Y., Okamoto, K. Tags: MRI, All Neuro-ophthalmology, Optic nerve, Visual loss, Primary brain tumor NEUROIMAGES Source Type: research
COL4A2 is associated with lacunar ischemic stroke and deep ICH: Meta-analyses among 21,500 cases and 40,600 controls
Conclusions:
These results provide evidence of shared genetic determinants and suggest common pathophysiologic mechanisms of distinct ischemic and hemorrhagic cerebral SVD stroke phenotypes, offering new insights into the causal mechanisms of cerebral SVD. (Source: Neurology)
Source: Neurology - October 23, 2017 Category: Neurology Authors: Rannikmäe, K., Sivakumaran, V., Millar, H., Malik, R., Anderson, C. D., Chong, M., Dave, T., Falcone, G. J., Fernandez-Cadenas, I., Jimenez-Conde, J., Lindgren, A., Montaner, J., O'Donnell, M., Pare, G., Radmanesh, F., Rost, N. S., Slowik, A., So& Tags: All Cerebrovascular disease/Stroke, Infarction, Intracerebral hemorrhage, All Genetics, Association studies in genetics ARTICLE Source Type: research
UFM1 founder mutation in the Roma population causes recessive variant of H-ABC
Conclusions:
UFM1 encodes ubiquitin-fold modifier 1 (UFM1), a member of the ubiquitin-like family involved in posttranslational modification of proteins. Its exact biological role is unclear. This study associates a UFM1 gene defect with a disease and sheds new light on possible UFM1 functional networks. (Source: Neurology)
Source: Neurology - October 23, 2017 Category: Neurology Authors: Hamilton, E. M. C., Bertini, E., Kalaydjieva, L., Morar, B., Dojcakova, D., Liu, J., Vanderver, A., Curiel, J., Persoon, C. M., Diodato, D., Pinelli, L., van der Meij, N. L., Plecko, B., Blaser, S., Wolf, N. I., Waisfisz, Q., Abbink, T. E. M., van der Kna Tags: MRI, Leukodystrophies, All Pediatric, All Genetics ARTICLE Source Type: research
A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy
Conclusions:
Tadalafil did not lessen the decline in ambulatory ability in boys with DMD. Further studies should be considered to confirm the hypothesis-generating upper limb data and to determine whether ambulatory decline can be slowed by initiation of tadalafil before 7 years of age.
Clinicaltrials.gov identifier:
NCT01865084.
Classification of evidence:
This study provides Class I evidence that tadalafil does not slow ambulatory decline in 7- to 14-year-old boys with Duchenne muscular dystrophy. (Source: Neurology)
Source: Neurology - October 23, 2017 Category: Neurology Authors: Victor, R. G., Sweeney, H. L., Finkel, R., McDonald, C. M., Byrne, B., Eagle, M., Goemans, N., Vandenborne, K., Dubrovsky, A. L., Topaloglu, H., Miceli, M. C., Furlong, P., Landry, J., Elashoff, R., Cox, D., For the Tadalafil DMD Study Group Tags: Muscle disease, Clinical trials Randomized controlled (CONSORT agreement) ARTICLE Source Type: research
Disparate effects of training on brain activation in Parkinson disease
Conclusions:
Exercise modifies brain activation patterns in patients with PD in a mode-specific manner. Motor-cognitive training decreased the reliance on frontal regions, which apparently resulted in improved function, perhaps reflecting increased brain efficiency. (Source: Neurology)
Source: Neurology - October 23, 2017 Category: Neurology Authors: Maidan, I., Rosenberg-Katz, K., Jacob, Y., Giladi, N., Hausdorff, J. M., Mirelman, A. Tags: fMRI, Parkinson's disease/Parkinsonism, Executive function, Plasticity ARTICLE Source Type: research
Comment: Caffeine and PD--Time to consider other interventions
Caffeine had shown promise in a small (61 patients), short (6 weeks), randomized study1 for improving motor function in patients with Parkinson disease. Caffeine holds appeal as an inexpensive intervention that is well-tolerated in most individuals. The investigators for that small study now report the results of a multicenter randomized study2 using the same outcome. They designed the study to have approximately 4 times as many participants, an extended follow-up to evaluate the persistence of any effects, and adequate power to detect a similar effect size as observed in the smaller study. The study focused on symptomatic...
Source: Neurology - October 23, 2017 Category: Neurology Authors: Hall, C. B. Tags: ARTICLE Source Type: research
Caffeine as symptomatic treatment for Parkinson disease (Cafe-PD): A randomized trial
Conclusion:
Caffeine did not provide clinically important improvement of motor manifestations of PD (Class I evidence). Epidemiologic links between caffeine and lower PD risk do not appear to be explained by symptomatic effects.
Clinicaltrials.gov identifier:
NCT01738178.
Classification of evidence:
This study provides Class I evidence that for patients with PD, caffeine does not significantly improve motor manifestations. (Source: Neurology)
Source: Neurology - October 23, 2017 Category: Neurology Authors: Postuma, R. B., Anang, J., Pelletier, A., Joseph, L., Moscovich, M., Grimes, D., Furtado, S., Munhoz, R. P., Appel-Cresswell, S., Moro, A., Borys, A., Hobson, D., Lang, A. E. Tags: Parkinson's disease/Parkinsonism ARTICLE Source Type: research
