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Martin J Brodie, Toufic Fakhoury, Belinda McDonough, Anny-Odile Colson, Armel Stockis, Sami Elmoufti, John Whitesides
To assess the association, if any, between brivaracetam (BRV)-induced elevated carbamazepine-10,11-epoxide (CBZ-E) and toxicity and efficacy in patients with epilepsy. Data were pooled from three double-blind, placebo-controlled, Phase III studies of adjunctive BRV in adults with uncontrolled focal seizures (N01252/NCT00490035, N01253/NCT00464269, N01358/NCT01261325). Treatment-emergent adverse events (TEAEs) of interest (ataxia, diplopia, dizziness, nystagmus, somnolence, accidental overdose or poisoning, and toxicity), discontinuations due to TEAEs, and serious TEAEs (SAEs) were assessed in subgroups who did/did not receive carbamazepine (CBZ) at study entry (CBZ+ and CBZ-)...
June 4, 2018: Epilepsy Research
G Guerra-Jiménez, E Domènech-Vadillo, M G Álvarez-Morujo de Sande, R González-Aguado, H Galera-Ruiz, C Morales Angulo, A J Martín-Mateos, E Figuerola-Massana, Á Ramos-Macías, E Domínguez-Durán
OBJECTIVES: To compare the outcome of the Epley maneuver (EM) in benign paroxysmal positional vertigo of the posterior canal (CSP-BPPV) depending on the definition used for recovery. DESIGN: Multicenter observational prospective study. SETTING: Otoneurology Units of five tertiary reference hospitals. PARTICIPANTS: All patients presenting with unilateral CSP-BPPV assisted for one-year period. EXCLUSION CRITERIA: Spontaneous nystagmus, positive McClure-Pagnini maneuver, positive bilateral Dix-Hallpike maneuver (DHM), positive DHM for vertigo but negative for nystagmus and atypical nystagmus...
June 15, 2018: Clinical Otolaryngology
Andreas Syrimis, Nayia Nicolaou, Angelos Alexandrou, Ioannis Papaevripidou, Michael Nicolaou, Eleni Loukianou, Carolina Sismani, Stavros Malas, Violetta Christophidou-Anastasiadou, George A Tanteles
The present study investigated the clinical and mutational spectrum of aniridia in a cohort of 17 affected individuals from six families from Cyprus. Each proband was initially evaluated for copy number variants at the PAX6 locus and subsequently underwent PAX6 mutation screening. Sequence analysis of FOXC1 and PITX2 was performed in patients who did not carry a PAX6 mutation. The most common clinical features in the group of aniridia patients associated with aniridia were nystagmus, cataracts and glaucoma...
June 5, 2018: Molecular Medicine Reports
Enrico Bertini, Ginevra Zanni, Eugen Boltshauser
The terminology of nonprogressive congenital ataxia (NPCA) refers to a clinically and genetically heterogeneous group of disorders characterized by congenital or early-onset ataxia, but no progression or even improvement on follow-up. Ataxia is preceded by muscular hypotonia and delayed motor (and usually language) milestones. We exclude children with prenatal, perinatal, and postnatal acquired diseases, malformations other than cerebellar hypoplasia, and defined syndromic disorders. Patients with NPCA have a high prevalence of cognitive and language impairments, in addition to increased occurrence of seizures, ocular signs (nystagmus, strabismus), behavior changes, and microcephaly...
2018: Handbook of Clinical Neurology
Fatima Y Ismail, Hiroshi Mitoma, Ali Fatemi
The nervous system is vulnerable to intrinsic and extrinsic metabolic perturbations. In particular, the cerebellum, with its large Purkinje cells and its high density of neurons and glial cells, has high metabolic demand and is highly vulnerable to metabolic derangements. As a result, many disorders of intermediary metabolism will preferentially and sometimes selectively target the cerebellum. However, many of these disorders present in a multisystem fashion with ataxia being a part of the neurologic symptom complex...
2018: Handbook of Clinical Neurology
Takamori Takeda, Yoshiyuki Kawashima, Chiaki Hirai, Ayane Makabe, Taku Ito, Taro Fujikawa, Katsura Yamamoto, Ayako Maruyama, Takeshi Tsutsumi
OBJECTIVE: To describe the vestibular function in patients with superficial siderosis of the central nervous system (SSCN). STUDY DESIGN: Retrospective analysis. SETTING: Tertiary referral center. PATIENTS: Ten consecutive patients with SSCN. This study is the largest case series of SSCN in which detailed neuro-otological findings, including electronystagmography recording, video head impulse test (vHIT), and posturography, were described...
July 2018: Otology & Neurotology
Deborah A Hall, Avram Fraint, Rima Dafer
Background: Fragile-X associated tremor/ataxia syndrome (FXTAS) is commonly associated with T2 hyperintensity in the middle cerebellar peduncles (MCP) on magnetic resonance imaging (MRI). However, ischemic stroke in the MCP in a patient with FXTAS has not previously been described. Case Description: A 61-year-old man with hypertension, sleep apnea, obesity, and FXTAS presented to the emergency department with 2 days of worsening balance and nausea which began 2 days after chiropractic neck manipulation. Examination revealed new nystagmus and worsening dysmetria...
2018: Frontiers in Genetics
Xia Ling, Dan-Hua Zhao, Jing Zhao, Bo Shen, Xu Yang
PURPOSE: To report the clinical features and gene mutations in four episodic ataxia type 2 (EA2) patients whose main presentation was recurrent dizziness/vertigo. METHODS: Clinical data of four EA2 patients (three familial EA2 cases and one sporadic case) with recurrent dizziness/vertigo were collected to assess nystagmus and eye movement. Gene mutations were identified by whole exome sequencing. RESULTS: The three patients in family 1 experienced disease onset before 8 years of age, presented with a chief complaint of episodic dizziness, muscle weakness of the lower limbs and the inability to walk...
June 8, 2018: International Journal of Neuroscience
Fulya Eren, Mehmet Ali Aldan, Vasfiye Burcu Dogan, Günay Gül, Hakan Hatem Selcuk, Aysun Soysal
Background - Metronidazole is a synthetic antibiotic, which has been commonly used for protozoal and anaerobic infections. It rarely causes dose - and duration - unrelated reversible neurotoxicity. It can induce hyperintense T2/FLAIR MRI lesions in several areas of the brain. Although the clinical status is catastrophic, it is completely reversible after discontinuation of the medicine. Case report - 36-year-old female patient who had recent brain abscess history was under treatment of metronidazole for 40 days...
November 30, 2017: Ideggyógyászati Szemle
Diego Kaski, Salman Haider, Amanda Male, Alex Radunovich, Fan Liu, Carla Cordivari, Kailash P Bhatia, Adolfo M Bronstein
Acquired periodic alternating nystagmus (PAN) describes a horizontal jerk nystagmus that reverses its direction with a predictable cycle, and is thought to arise from lesions involving the brainstem and cerebellum. We report a 20-year-old patient with PAN who presented with an acute vertiginous episode and developed an involuntary head movement that initially masked the PAN. The involuntary head movements were abolished with a subtherapeutic dose of botulinum toxin to the neck muscles. We propose that the head movements initially developed as a compensatory movement to the nystagmus, to maintain visual fixation in the presence of the underlying nystagmus, and became an entrained involuntary behavior...
2018: Frontiers in Neurology
Mun Young Chang, Moo Kyun Park, So Hyeon Park, Myung-Whan Suh, Jun Ho Lee, Seung Ha Oh
To study the vestibular system or the vestibular compensation process, a number of methods have been developed to cause vestibular damage, including surgical or chemical labyrinthectomy and vestibular neurectomy. Surgical labyrinthectomy is a relatively simple, reliable, and rapid method. Here, we describe the surgical technique for rat labyrinthectomy. A postauricular incision is made under general anesthesia to expose the external auditory canal and the tympanic membrane, after which the tympanic membrane and the ossicles are removed without the stapes...
May 19, 2018: Journal of Visualized Experiments: JoVE
Sung Soo Hwang, Wan Soo Kim, Soo Jung Lee
AIM: To evaluate the prevalence, clinical features, and the factors affecting onset of strabismus and nystagmus in patients with bilateral congenital cataracts. METHODS: This study evaluated 116 eyes of 58 patients who underwent lens removal for the treatment of bilateral congenital cataracts between January 1999 and January 2011. The presence and type of strabismus and nystagmus were determined before and after surgery. Type of strabismus and final visual acuity were compared in patients with and without nystagmus...
2018: International Journal of Ophthalmology
Juliane Matlach, Thea Zindel, Yasmina Amraoui, Laila Arash-Kaps, Julia B Hennermann, Susanne Pitz
BACKGROUND: α-mannosidosis is a rare, autosomal-recessive, lysosomal storage disease caused by a deficient activity of α-mannosidase. Typical symptoms include intellectual, motor and hearing impairment, facial coarsening, and musculoskeletal abnormalities. Ocular pathologies reported previously were mainly opacities of the cornea and lens, strabismus, and ocular motility disorders. However, retinal and optic nerve degeneration have been rarely described. METHODS: We report ocular findings of 32 patients with α-mannosidosis...
June 1, 2018: Orphanet Journal of Rare Diseases
Enrique García Zamora, Pedro Espírito-Santo Araújo, Vanesa Pérez Guillén, María Fernanda Vargas Gamarra, Victoria Fornés Ferrer, Magdalena Courel Rauch, Herminio Pérez Garrigues
HYPOTHESIS: The knowledge of vibration-induced nystagmus test (SVINT) values in the normal population is highly relevant to provide a rapid orientation on the diagnosis attitude in a patient with vertigo. BACKGROUND: Although mastoid bone vibration should only induce nystagmus in the presence of vestibular asymmetry, it has also been reported in normal individuals raising doubts as to how to interpret the SVINT. To date, no population studies involving the use of the SVINT and that establish normative values have been published...
June 1, 2018: European Archives of Oto-rhino-laryngology
Lauran Wirfs, Kristen Whitworth, Jesse Kellar
No abstract text is available yet for this article.
November 2017: Clinical practice and cases in emergency medicine
Poorani Anandakrishnan, Teik Beng Khoo
Cerebral demyelination and optic neuritis are often seen in children with acute disseminated encephalomyelitis following various infections and immunisations. An eight month old girl presented with a left axillary lymph node swelling and an erythematous lace-like rash over her cheeks and trunk. She then developed acute encephalopathy, bilateral nystagmus, right hemiparesis and left facial nerve palsy. Her electroencephalogram showed an encephalopathic process and visual evoked response study were grossly abnormal...
May 30, 2018: BMJ Case Reports
Anna G Escuder, Milan P Ranka, Kathy Lee, Julie N Nam, Mark A Steele
PURPOSE: To evaluate the clinical outcomes of bilateral superior oblique posterior 7/8th tenectomy with inferior rectus recession on improving chin-up head positioning in patients with horizontal nystagmus. METHODS: Medical records were reviewed from 2007 to 2017 for patients with nystagmus and chin-up positioning of 15° or more who underwent combined bilateral superior oblique posterior 7/8th tenectomy with an inferior rectus recession of at least 5 mm. RESULTS: Thirteen patients (9 males and 4 females) were included, with an average age of 7...
May 29, 2018: Journal of Pediatric Ophthalmology and Strabismus
J Suleiman, A M Al Hashem, B Tabarki, K Al-Thihli, W Bi, A W El-Hattab
We present three children with homozygous null variants in the PPP1R21 gene. A 3-year-old girl had profound developmental delay, hypotonia and weakness, poor feeding, recurrent chest infections and respiratory failure, rotatory nystagmus, absent reflexes, and a homozygous nonsense variant c.2089C>T (p.Arg697*). A 2-year-old boy had profound developmental delay, weakness and hypotonia, recurrent chest infections and respiratory distress, undescended testes, rotatory nystagmus, hyporeflexia, and a homozygous nonsense variant c...
May 28, 2018: Clinical Genetics
Chang-Hee Kim, Seok Min Hong
OBJECTIVE: Clinicians sometimes see patients with relatively persistent geotropic direction-changing positional nystagmus (DCPN) as a variant of lateral semicircular canal-benign paroxysmal positional vertigo (LSCC-BPPV). Recently, the concept of a "light cupula" in the lateral semicircular canal, exhibiting persistent geotropic DCPN, has been introduced. However, the underlying pathogenesis of light cupula is not known. We investigated the efficacy of a modified cupulopathy repositioning maneuver (mCuRM), designed to reduce light debris attached to the cupula in patients with persistent geotropic DCPN...
May 26, 2018: European Archives of Oto-rhino-laryngology
Macym T Rizvi, Lauren Cameron, Camilla Kilbane, Aasef G Shaikh
Seesaw nystagmus is characterized by the rhythmic combination of vertical and torsional dysconjugate oscillations where one eye moves up and inward while the other moves down and outward. Common association of seesaw nystagmus with accessory optic track lesions lead to traditional hypothesis that it is due to the mismatch in the vision and vestibular systems. Here we propose a novel mechanism for seesaw nystagmus. We hypothesize that reverberations due to abnormal increases in the excitability of the reciprocally innervating circuit of excitatory burst neuron in the midbrain interstitial nucleus of Cajal causes the seesaw nystagmus...
July 15, 2018: Journal of the Neurological Sciences
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