Try a new search

Format these results:

Searched for:



Total Results:


Subacute Vision Loss in a Patient With HIV

Park, George T; Gold, Doria M; Modi, Yasha; Rucker, Janet C
PMID: 37995149
ISSN: 1536-5166
CID: 5608722

Relapsing White Matter Disease and Subclinical Optic Neuropathy: From the National Multiple Sclerosis Society Case Conference Proceedings

O'Neill, Kimberly A; Dugue, Andrew; Abreu, Nicolas J; Balcer, Laura J; Branche, Marc; Galetta, Steven; Graves, Jennifer; Kister, Ilya; Magro, Cynthia; Miller, Claire; Newsome, Scott D; Pappas, John; Rucker, Janet; Steigerwald, Connolly; William, Christopher M; Zamvil, Scott S; Grossman, Scott N; Krupp, Lauren B
A 16-year-old adolescent boy presented with recurrent episodes of weakness and numbness. Brain MRI demonstrated subcortical, juxtacortical, and periventricular white matter T2 hyperintensities with gadolinium enhancement. CSF was positive for oligoclonal bands that were not present in serum. Despite treatment with steroids, IV immunoglobulins, plasmapheresis, and rituximab, he continued to have episodes of weakness and numbness and new areas of T2 hyperintensity on imaging. Neuro-ophthalmologic examination revealed a subclinical optic neuropathy with predominant involvement of the papillomacular bundle. Genetic evaluation and brain biopsy led to an unexpected diagnosis.
PMID: 38181317
ISSN: 2332-7812
CID: 5628442

Opsoclonus and ocular flutter: evaluation and management

Grossman, Scott N; Rucker, Janet C
PURPOSE OF REVIEW/OBJECTIVE:Opsoclonus and ocular flutter are saccadic intrusions characterized by spontaneous, back-to-back, fast eye movements (saccades) that oscillate about the midline of central visual fixation without intervening inter-saccadic intervals. When this type of movement occurs exclusively in the horizontal plane, it is called ocular flutter. When it occurs in multiple planes (i.e. horizontal, vertical, and torsional) it is called opsoclonus. The most common etiologic categories are parainfectious and paraneoplastic diseases. Less common are toxic-metabolic, traumatic, or idiopathic origins. The mechanism of these movements relates to dysfunction of brainstem and cerebellar machinery involved in the generation of saccades. In this review, we discuss the characteristics of opsoclonus and ocular flutter, describe approaches to clinical evaluation and management of the patient with opsoclonus and ocular flutter, and review approaches to therapeutic intervention. RECENT FINDINGS/RESULTS:Recent publications demonstrated eye position-dependent opsoclonus present only in left gaze, which may be related to dysfunction of frontal eye fields or structures in the cerebellar vermis. SUMMARY/CONCLUSIONS:Opsoclonus and ocular flutter originate from a broad array of neuropathologies and have value from both a neuroanatomic and etiologic perspective.
PMID: 37603546
ISSN: 1531-7021
CID: 5598342

Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review [Case Report]

Jauregui, Ruben; Abreu, Nicolas J; Golan, Shani; Panarelli, Joseph F; Sigireddi, Meenakshi; Nayak, Gopi K; Gold, Doria M; Rucker, Janet C; Galetta, Steven L; Grossman, Scott N
Wolfram syndrome is a neurodegenerative disorder caused by pathogenic variants in the genes WFS1 or CISD2. Clinically, the classic phenotype is composed of optic atrophy, diabetes mellitus type 1, diabetes insipidus, and deafness. Wolfram syndrome, however, is phenotypically heterogenous with variable clinical manifestations and age of onset. We describe four cases of genetically confirmed Wolfram syndrome with variable presentations, including acute-on-chronic vision loss, dyschromatopsia, and tonic pupils. All patients had optic atrophy, only three had diabetes, and none exhibited the classic Wolfram phenotype. MRI revealed a varying degree of the classical features associated with the syndrome, including optic nerve, cerebellar, and brainstem atrophy. The cohort's genotype and presentation supported the reported phenotype-genotype correlations for Wolfram, where missense variants lead to milder, later-onset presentation of the Wolfram syndrome spectrum. When early onset optic atrophy and/or diabetes mellitus are present in a patient, a diagnosis of Wolfram syndrome should be considered, as early diagnosis is crucial for the appropriate referrals and management of the associated conditions. Nevertheless, the condition should also be considered in otherwise unexplained, later-onset optic atrophy, given the phenotypic spectrum.
PMID: 37508961
ISSN: 2076-3425
CID: 5593192

MICK (Mobile Integrated Cognitive Kit) app: Feasibility of an accessible tablet-based rapid picture and number naming task for concussion assessment in a division 1 college football cohort

Bell, Carter A; Rice, Lionel; Balcer, Marc J; Pearson, Randolph; Penning, Brett; Alexander, Aubrey; Roskelly, Jensyn; Nogle, Sally; Tomczyk, Chris P; Tracey, Allie J; Loftin, Megan C; Pollard-McGrandy, Alyssa M; Zynda, Aaron J; Covassin, Tracey; Park, George; Rizzo, John-Ross; Hudson, Todd; Rucker, Janet C; Galetta, Steven L; Balcer, Laura; Kaufman, David I; Grossman, Scott N
Although visual symptoms are common following concussion, quantitative measures of visual function are missing from concussion evaluation protocols on the athletic sideline. For the past half century, rapid automatized naming (RAN) tasks have demonstrated promise as quantitative neuro-visual assessment tools in the setting of head trauma and other disorders but have been previously limited in accessibility and scalability. The Mobile Interactive Cognitive Kit (MICK) App is a digital RAN test that can be downloaded on most mobile devices and can therefore provide a quantitative measure of visual function anywhere, including the athletic sideline. This investigation examined the feasibility of MICK App administration in a cohort of Division 1 college football players. Participants (n = 82) from a National Collegiate Athletic Association (NCAA) Division 1 football team underwent baseline testing on the MICK app. Total completion times of RAN tests on the MICK app were recorded; magnitudes of best time scores and between-trial learning effects were determined by paired t-test. Consistent with most timed performance measures, there were significant learning effects between the two baseline trials for both RAN tasks on the MICK app: Mobile Universal Lexicon Evaluation System (MULES) (p < 0.001, paired t-test, mean improvement 13.3 s) and the Staggered Uneven Number (SUN) (p < 0.001, mean improvement 3.3 s). This study demonstrated that the MICK App can be feasibly administered in the setting of pre-season baseline testing in a Division I environment. These data provide a foundation for post-injury sideline testing that will include comparison to baseline in the setting of concussion.
PMID: 36208585
ISSN: 1878-5883
CID: 5351822

Accuracy of clinical versus oculographic detection of pathological saccadic slowing

Grossman, Scott N; Calix, Rachel; Hudson, Todd; Rizzo, John Ross; Selesnick, Ivan; Frucht, Steven; Galetta, Steven L; Balcer, Laura J; Rucker, Janet C
Saccadic slowing as a component of supranuclear saccadic gaze palsy is an important diagnostic sign in multiple neurologic conditions, including degenerative, inflammatory, genetic, or ischemic lesions affecting brainstem structures responsible for saccadic generation. Little attention has been given to the accuracy with which clinicians correctly identify saccadic slowing. We compared clinician (n = 19) judgements of horizontal and vertical saccade speed on video recordings of saccades (from 9 patients with slow saccades, 3 healthy controls) to objective saccade peak velocity measurements from infrared oculographic recordings. Clinician groups included neurology residents, general neurologists, and fellowship-trained neuro-ophthalmologists. Saccades with normal peak velocities on infrared recordings were correctly identified as normal in 57% (91/171; 171 = 9 videos × 19 clinicians) of clinician decisions; saccades determined to be slow on infrared recordings were correctly identified as slow in 84% (224/266; 266 = 14 videos × 19 clinicians) of clinician decisions. Vertical saccades were correctly identified as slow more often than horizontal saccades (94% versus 74% of decisions). No significant differences were identified between clinician training levels. Reliable differentiation between normal and slow saccades is clinically challenging; clinical performance is most accurate for detection of vertical saccade slowing. Quantitative analysis of saccade peak velocities enhances accurate detection and is likely to be especially useful for detection of mild saccadic slowing.
PMID: 36183516
ISSN: 1878-5883
CID: 5359142

Periodic Alternating Gaze Deviation

Talmasov, Daniel; Jain, Rajan; Galetta, Steven L; Rucker, Janet C
PMID: 35421037
ISSN: 1536-5166
CID: 5204432

A Case of Opsoclonus-Myoclonus-Ataxia With Neuronal Intermediate Filament IgG Detected in Cerebrospinal Fluid [Case Report]

Merati, Melody; Rucker, Janet C; McKeon, Andrew; Frucht, Steven J; Hu, Jessica; Balcer, Laura J; Galetta, Steven L
ABSTRACT:A 62-year-old man presented with headache, fever, and malaise. He was diagnosed with Anaplasma phagocytophilum, confirmed by serum polymerase chain reaction, and started on oral doxycycline. After 5 days of treatment, the patient began to experience gait imbalance with frequent falls, as well as myoclonus, and confusion. Examination was notable for opsoclonus-myoclonus-ataxia (OMA) and hypometric saccades. Cerebrospinal fluid (CSF) autoimmune encephalitis panel demonstrated a markedly elevated neuronal intermediate filament (NIF) immunoglobulin G antibody titer of 1:16, with positive neurofilament light- and heavy-chain antibodies. These antibodies were suspected to have been triggered by the Anaplasma infection. Repeat CSF examination 8 days later still showed a positive immunofluorescence assay for NIF antibodies, but the CSF titer was now less than 1:2. Body computed tomography imaging was unrevealing for an underlying cancer. Our patient illustrates a postinfectious mechanism for OMA and saccadic hypometria after Anaplasma infection.
PMID: 35594157
ISSN: 1536-5166
CID: 5283712

Exploration of Rapid Automatized Naming and Standard Visual Tests in Prodromal Alzheimer Disease Detection

Wu, Shirley Z; Nolan-Kenney, Rachel; Moehringer, Nicholas J; Hasanaj, Lisena F; Joseph, Binu M; Clayton, Ashley M; Rucker, Janet C; Galetta, Steven L; Wisniewski, Thomas M; Masurkar, Arjun V; Balcer, Laura J
BACKGROUND:Visual tests in Alzheimer disease (AD) have been examined over the last several decades to identify a sensitive and noninvasive marker of the disease. Rapid automatized naming (RAN) tasks have shown promise for detecting prodromal AD or mild cognitive impairment (MCI). The purpose of this investigation was to determine the capacity for new rapid image and number naming tests and other measures of visual pathway structure and function to distinguish individuals with MCI due to AD from those with normal aging and cognition. The relation of these tests to vision-specific quality of life scores was also examined in this pilot study. METHODS:Participants with MCI due to AD and controls from well-characterized NYU research and clinical cohorts performed high and low-contrast letter acuity (LCLA) testing, as well as RAN using the Mobile Universal Lexicon Evaluation System (MULES) and Staggered Uneven Number test, and vision-specific quality of life scales, including the 25-Item National Eye Institute Visual Function Questionnaire (NEI-VFQ-25) and 10-Item Neuro-Ophthalmic Supplement. Individuals also underwent optical coherence tomography scans to assess peripapillary retinal nerve fiber layer and ganglion cell/inner plexiform layer thicknesses. Hippocampal atrophy on brain MRI was also determined from the participants' Alzheimer disease research center or clinical data. RESULTS:Participants with MCI (n = 14) had worse binocular LCLA at 1.25% contrast compared with controls (P = 0.009) and longer (worse) MULES test times (P = 0.006) with more errors in naming images (P = 0.009) compared with controls (n = 16). These were the only significantly different visual tests between groups. MULES test times (area under the receiver operating characteristic curve [AUC] = 0.79), MULES errors (AUC = 0.78), and binocular 1.25% LCLA (AUC = 0.78) showed good diagnostic accuracy for distinguishing MCI from controls. A combination of the MULES score and 1.25% LCLA demonstrated the greatest capacity to distinguish (AUC = 0.87). These visual measures were better predictors of MCI vs control status than the presence of hippocampal atrophy on brain MRI in this cohort. A greater number of MULES test errors (rs = -0.50, P = 0.005) and worse 1.25% LCLA scores (rs = 0.39, P = 0.03) were associated with lower (worse) NEI-VFQ-25 scores. CONCLUSIONS:Rapid image naming (MULES) and LCLA are able to distinguish MCI due to AD from normal aging and reflect vision-specific quality of life. Larger studies will determine how these easily administered tests may identify patients at risk for AD and serve as measures in disease-modifying therapy clinical trials.
PMID: 34029274
ISSN: 1536-5166
CID: 4878882

Opsoclonus in Uremia With Resolution After Hemodialysis

Changa, Abhinav R; Rucker, Janet C; Drummond, Patrick S
ABSTRACT/UNASSIGNED:A 78-year-old man was evaluated for altered mentation in the setting of significant uremia. On examination, he was found to be encephalopathic with generalized myoclonus and spontaneous opsoclonus. He had no known risk factors for the development of opsoclonus and upon undergoing hemodialysis, experienced near resolution of his eye movement abnormalities, thus highlighting a possible link between the uremic state and opsoclonus.
PMID: 34270515
ISSN: 1536-5166
CID: 4939012