541 research outputs found
The Reuven Fahn Collection
No full textThe article, divided into five chapters, is devoted to the corpus of works by the Hebrew writer Reuven Fahn (1878–1939?) about the Karaites. The works consist of both research and literary writings. The article emphasizes the fact that Reuven Fahn was the only author who wrote stories about the lives of the Karaites in Hebrew. In the first chapter, parts of his life are depicted, emphasizing the period when he lived in the town of Halicz. The second describes briefly the variety of research and literary works he produced. The third deals with his approach as a religious Jew to research on the Karaites. The fourth studies his stories about various characters in the Karaite community and their customs. The stories demonstrate Reuven Fahn’s close familiarity with the Karaites, the compassion he felt toward them, as well as his criticism of them. The fifth is devoted to a description of seven Karaite legends that he personally heard from them and then put into writing in Hebrew. To finalize the picture, the history of the Karaites in WWII is briefly mentioned, as well as the immigration of part of the community to Israel in the 1950s. A list of selected works by Reuven Fahn concerning the Karaites is included in the article
FAHN/SPG35 : a narrow phenotypic spectrum across disease classifications
No full textThe endoplasmic reticulum enzyme fatty acid 2-hydroxylase (FA2H) plays a major role in the formation of 2-hydroxy glycosphingolipids, main components of myelin. FA2H deficiency in mice leads to severe central demyelination and axon loss. In humans it has been associated with phenotypes from the neurodegeneration with brain iron accumulation (fatty acid hydroxylase-associated neurodegeneration, FAHN), hereditary spastic paraplegia (HSP type SPG35) and leukodystrophy (leukodystrophy with spasticity and dystonia) spectrum. We performed an in-depth clinical and retrospective neurophysiological and imaging study in a cohort of 19 cases with biallelic FA2H mutations. FAHN/SPG35 manifests with early childhood onset predominantly lower limb spastic tetraparesis and truncal instability, dysarthria, dysphagia, cerebellar ataxia, and cognitive deficits, often accompanied by exotropia and movement disorders. The disease is rapidly progressive with loss of ambulation after a median of 7 years after disease onset and demonstrates little interindividual variability. The hair of FAHN/SPG35 patients shows a bristle-like appearance; scanning electron microscopy of patient hair shafts reveals deformities (longitudinal grooves) as well as plaque-like adhesions to the hair, likely caused by an abnormal sebum composition also described in a mouse model of FA2H deficiency. Characteristic imaging features of FAHN/SPG35 can be summarized by the WHAT' acronym: white matter changes, hypointensity of the globus pallidus, ponto-cerebellar atrophy, and thin corpus callosum. At least three of four imaging features are present in 85% of FA2H mutation carriers. Here, we report the first systematic, large cohort study in FAHN/SPG35 and determine the phenotypic spectrum, define the disease course and identify clinical and imaging biomarkers
Neck atonia with a focal stimulation-induced seizure arising from the SMA: pathophysiological considerations.
No full textA 28-year-old patient with pharmacoresistant non-lesional right frontal epilepsy underwent extra-operative intracranial EEG recordings and electrical cortical stimulation (ECS) to map eloquent cortex. Right supplementary motor area (SMA) ECS induced a brief seizure with habitual symptoms involving neck tingling followed by asymmetric tonic posturing. An additional feature was neck atonia. During atonia and sensory aura, discharges were seen in the mesial frontal electrodes and precentral gyrus. Besides motor signs, atonia, although rare and not described in the neck muscles, and sensations have been reported with SMA stimulation. The mechanisms underlying neck atonia in seizures arising from the SMA can be explained by supplementary negative motor area (SNMA) - though this was not mapped in electrodes overlying the ictal onset zone in our patient - or primary sensorimotor cortex activation through rapid propagation. Given the broad spectrum of signs elicited by SMA stimulation and rapid spread of seizures arising from the SMA, caution should be taken to not diagnose these as non-epileptic, as had previously occurred in this patient
Myoclonus in Complex Regional Pain Syndrome
No full textArticle first published online: 30 OCT 2008Anthony E. Lang, Michael Angel, Kailash Bhatia, Robert Chen, Stanley Fahn, Mark Hallett, Anette Schrag, Philip Thompso
Long-Term Efficacy and Safety of Chronic Globus Pallidus Internus Stimulation in Different Types of Primary Dystonia
No full textBackground: Deep brain stimulation (DBS) of the globus pallidus internus (GPi) offers a very promising therapy for medically intractable dystonia. However, little is known about the long-term benefit and safety of this procedure. We therefore performed a retrospective long-term analysis of 18 patients (age 12-78 years) suffering from primary generalized (9), segmental (6) or focal (3) dystonia (minimum follow-up: 36 months). Methods: Outcome was assessed using the Burke-Fahn-Marsden (BFM) scores (generalized dystonia) and the Tsui score (focal/segmental dystonia). Follow-up ranged between 37 and 90 months (mean 60 months). Results: Patients with generalized dystonia showed a mean improvement in the BFM movement score of 39.4% (range 0 68.8%), 42.5% (range -16.0 to 81.3%) and 46.8% (range-2.7 to 83.1%) at the 3- and 12-month, and long-term follow-up, respectively. In focal/ segmental dystonia, the mean reduction in the Tsui score was 36.8% (range 0-100%), 65.1% (range 16.7-100%) and 59.8% (range 16.7-100%) at the 3- and 12-month, and long-term follow-up, respectively. Local infections were noted in 2 patients and hardware problems (electrode dislocation and breakage of the extension cable) in 1 patient. Conclusion: Our data showed Gpi-DBS to offer a very effective and safe therapy for different kinds of primary dystonia, with a significant long-term benefit in the majority of cases. Copyright (c) 2008 S. Karger AG, Base
Maxwell's Demon and the Entropy Cost of Information
No full textWe present an analysis of Szilard's one-molecule Maxwell's demon, including a detailed entropy accounting, that suggests a general theory of the entropy cost of information. It is shown that the entropy of the demon increases during the expansion step, due to the decoupling of the molecule from the measurement information. It is also shown that there is an entropy symmetry between the measurement and erasure steps, whereby the two steps additively share a constant entropy change, but the proportion that occurs during each of the two steps is arbitrary. Therefore the measurement step may be accompanied by an entropy increase, a decrease, or no change at all, and likewise for the erasure step. Generalizing beyond the demon, decorrelation between a physical system and information about that system always causes an entropy increase in the joint system comprised of both the original system and the information. Decorrelation causes a net entropy increase in the universe unless, as in the Szi..
Early Globus Pallidus Internus Stimulation in Pediatric Patients With Generalized Primary Dystonia: Long-Term Efficacy and Safety
No full textPrimary generalized dystonia presents mainly at a young age and commonly is severely disabling. The authors report the long-term follow-up (mean, 73 months; range, 50-101 months) of 5 pediatric patients (mean age at surgery 13 years; range, 8-16 years) undergoing globus pallidus internus deep brain stimulation. Mean improvement in the Burke-Fahn-Marsden movement score was 67.4% (range, 47.0%-87.5%), 75.4% (range, 61.5%-91.7%), and 83.5% (range, 72.0%-93.3%) at 3 months, 12 months, and long-term follow-up (>36 months), respectively. Hardware problems (electrode dislocation/breakage of extension cable, and imminent perforation of extension cable) were observed in 2 patients (operative revision without sequelae). Except for mild dysarthria in 2 patients, no other therapy-related morbidity was observed. The authors found globus pallidus internus stimulation to offer a very effective and safe therapy in pediatric patients with primary dystonia. Early neurosurgical intervention seems to be crucial to prevent irreversible impairment of motor function
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