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Mashup Score: 1GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort - 25 day(s) ago
This study confirms that FGF14 GAA expansions are a frequent cause of DBN syndromes. It provides preliminary evidence that (GAA)200-249 alleles might be pathogenic. Finally, it provides large real-world and preliminary piloting placebo-controlled evidence for the efficacy of 4-aminopyridine in GAA-FGF14 disease.
Source: www.thelancet.comCategories: General Medicine News, General HCPsTweet
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Mashup Score: 1GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort - 25 day(s) ago
This study confirms that FGF14 GAA expansions are a frequent cause of DBN syndromes. It provides preliminary evidence that (GAA)200-249 alleles might be pathogenic. Finally, it provides large real-world and preliminary piloting placebo-controlled evidence for the efficacy of 4-aminopyridine in GAA-FGF14 disease.
Source: www.thelancet.comCategories: General Medicine News, General HCPsTweet-
3rd highlight from April issue @DavidPellerin_2 @szuchner & coll Report that FGF14 (GAA)≥250 expansions are a highly frequent cause of downbeat #nystagmus syndromes Read https://t.co/mRqVw65Ssx https://t.co/IuABEBRChv
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Mashup Score: 12Cerebellar Swelling Followed by Atrophy in Anti-Homer-3 Antibody–Associated Cerebellitis - 2 year(s) ago
A 26-year-old woman presented with dizziness for 4 weeks, accompanied by vertigo and imbalance for 10 days. Physical examination revealed dysarthria, nystagmus, tremor, and severe ataxia. Infectious and malignant etiologies were excluded. High-titer anti-Homer-3 antibodies were detected in CSF and serum. Neuroimaging showed prominent cerebellar swelling with enhancement (Figure). She got limited…
Source: NeurologyCategories: Latest Headlines, NeurologyTweet-
A 26-year-old woman presented with dizziness for 4 weeks, accompanied by vertigo and imbalance for 10 days. Physical examination revealed dysarthria, #nystagmus, tremor, and severe ataxia. Learn the diagnosis: https://t.co/db2mBw51AQ #Neurology #NeuroTwitter https://t.co/UiS9W6TacC
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Mashup Score: 5Downbeat Nystagmus in Cerebellitis - 3 year(s) ago
Oscillopsia due to downbeat nystagmus can be the presenting symptom of acute cerebellitis. The nystagmus is a result of exaggerated upward vestibulo-ocular input from the vestibular nuclei to the superior rectus and the inferior oblique muscles of the eye caused by the impaired feed-forward inhibition from the cerebellar flocculonodular Purkinje cells.
Source: Neurology Clinical PracticeCategories: Latest Headlines, NeurologyTweet-
Hayakawa et al report a case of pure downbeat #nystagmus in an adolescent woman with acute cerebellitis: https://t.co/Umg7yn13Ek #NeuroTwitter #NeuroOphthalmology https://t.co/0AqeVfWrUV
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Mashup Score: 1
AbstractPurpose:To translate infantile nystagmus system (INS) research into easily understood, clinically relevant terminology and suggest modifications to research and clinical testing, data and clinical interpretation, and therapeutic choices and evaluation.Methods:A clinical method is presented using only three best-corrected visual acuity measurements of patients with INS, whereby (1) a…
Source: journals.healio.comCategories: Latest Headlines, OphthalmologyTweet-
#OriginalArticle "There is no substitute for #EMR and the #NAFX for repeatable, accurate #nystagmus diagnoses or #INS evaluation, therapeutic determination, prediction, or evaluation." https://t.co/s6NPMovjTR https://t.co/v8eS1ayT25
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Mashup Score: 2
Downbeat nystagmus is a type of jerk nystagmus that may be seen in patients with lesions affecting the vestibulocerebellum. This is a case of a 7-year-old girl …
Source: SAGE JournalsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet-
Child Neurology Open has published this case report on downbeat #nystagmus. Read more about the case today. @JChildNeurol https://t.co/KvUN6BNQ9q
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Mashup Score: 0
Purpose:To characterize the effects of eye muscle surgery on patients older than 18 years with infantile nystagmus syndrome (INS) who have had only optical treatment.Methods:This was a prospective, single-center, interventional case series analysis of clinical and electro-phyisological data before and after surgery. Outcome measures included: clinical characteristics, surgical procedure, and…
Source: journals.healio.comCategories: Latest Headlines, OphthalmologyTweet-
Eye muscle surgery in adult patients with infantile #nystagmus results in many now able to obtain driver’s license https://t.co/xgRAYR2z2L https://t.co/gADQOE9x1c
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3rd highlight from April issue @DavidPellerin_2 @szuchner & coll Report that FGF14 (GAA)≥250 expansions are a highly frequent cause of downbeat #nystagmus syndromes Read https://t.co/mRqVw65Ssx https://t.co/IuABEBRChv