Searched for: person:ruckej02
The visual perception of natural motion: abnormal task-related neural activity in DYT1 dystonia
Sako, Wataru; Fujita, Koji; Vo, An; Rucker, Janet C; Rizzo, John-Ross; Niethammer, Martin; Carbon, Maren; Bressman, Susan B; Ulug, Aziz M; Eidelberg, David
Although primary dystonia is defined by its characteristic motor manifestations, non-motor signs and symptoms have increasingly been recognized in this disorder. Recent neuroimaging studies have related the motor features of primary dystonia to connectivity changes in cerebello-thalamo-cortical pathways. It is not known, however, whether the non-motor manifestations of the disorder are associated with similar circuit abnormalities. To explore this possibility, we used functional magnetic resonance imaging to study primary dystonia and healthy volunteer subjects while they performed a motion perception task in which elliptical target trajectories were visually tracked on a computer screen. Prior functional magnetic resonance imaging studies of healthy subjects performing this task have revealed selective activation of motor regions during the perception of 'natural' versus 'unnatural' motion (defined respectively as trajectories with kinematic properties that either comply with or violate the two-thirds power law of motion). Several regions with significant connectivity changes in primary dystonia were situated in proximity to normal motion perception pathways, suggesting that abnormalities of these circuits may also be present in this disorder. To determine whether activation responses to natural versus unnatural motion in primary dystonia differ from normal, we used functional magnetic resonance imaging to study 10 DYT1 dystonia and 10 healthy control subjects at rest and during the perception of 'natural' and 'unnatural' motion. Both groups exhibited significant activation changes across perceptual conditions in the cerebellum, pons, and subthalamic nucleus. The two groups differed, however, in their responses to 'natural' versus 'unnatural' motion in these regions. In healthy subjects, regional activation was greater during the perception of natural (versus unnatural) motion (P < 0.05). By contrast, in DYT1 dystonia subjects, activation was relatively greater during the perception of unnatural (versus natural) motion (P < 0.01). To explore the microstructural basis for these functional changes, the regions with significant interaction effects (i.e. those with group differences in activation across perceptual conditions) were used as seeds for tractographic analysis of diffusion tensor imaging scans acquired in the same subjects. Fibre pathways specifically connecting each of the significant functional magnetic resonance imaging clusters to the cerebellum were reconstructed. Of the various reconstructed pathways that were analysed, the ponto-cerebellar projection alone differed between groups, with reduced fibre integrity in dystonia (P < 0.001). In aggregate, the findings suggest that the normal pattern of brain activation in response to motion perception is disrupted in DYT1 dystonia. Thus, it is unlikely that the circuit changes that underlie this disorder are limited to primary sensorimotor pathways.
PMCID:4840548
PMID: 26419798
ISSN: 1460-2156
CID: 1789852
Progressive supranuclear palsy and environmental toxins
Rucker, Janet C; Frucht, Steven J
PMID: 26354984
ISSN: 1526-632x
CID: 1772572
Pseudo-Foster-Kennedy syndrome with optic nerve compression by the gyrus rectus
Desai, Ninad; Yong, Raymund L; Doshi, Amish; Rucker, Janet C
PMCID:4520816
PMID: 26215878
ISSN: 1526-632x
CID: 1698282
Pilot Study on Early Postoperative Discharge in Pituitary Adenoma Patients: Effect of Socioeconomic Factors and Benefit of Specialized Pituitary Centers
Sarkiss, Christopher A; Lee, James; Papin, Joseph A; Geer, Eliza B; Banik, Rudrani; Rucker, Janet C; Oudheusden, Barbara; Govindaraj, Satish; Shrivastava, Raj K
Introduction Pituitary neoplasms are benign entities that require distinct diagnostic and treatment considerations. Recent advances in endoscopic transsphenoidal surgery have resulted in shorter lengths of stay (LOS). We implemented a postoperative day (POD) 1 discharge paradigm involving a multidisciplinary approach and detailed preoperative evaluation and review of both medical and socioeconomic factors. Methods The experience of a single neurosurgeon/ears, nose, throat (ENT) team was reviewed, generating a preliminary retrospective database of the first 30 patients who underwent resection of pituitary lesions under the POD 1 discharge paradigm. We assessed multiple axes from their preoperative, in-house, and postoperative care. Results There were 14 men and 16 women with an average age of 53.8 years (range: 27-76 years). There were 22 nonsecretory and 8 secretory tumors with average size of 2.80 cm (range: 1.3-5.0 cm). All 30 patients underwent preoperative ENT evaluation. Average LOS was 1.5 +/- 0.7 days. A total of 18 of 30 patients were discharged on POD 1. The insurance status included 15 with public insurance such as emergency Medicaid and 15 with private insurance. Four patients had transient diabetes insipidus (DI); none had permanent DI. Overall, 28 of 30 patients received postoperative steroids. Factors that contributed to LOS > 1 day included public insurance status, two or more medical comorbidities, diabetes mellitus, transient panhypopituitarism, and DI. Conclusion The implementation of a POD 1 discharge plan for pituitary tumors is feasible and safe for elective patients. This implementation requires the establishment of a dedicated Pituitary Center model with experienced team members. The consistent limitation to early discharge was socioeconomic status. Efforts that incorporate the analysis of social disposition parameters with proper management of clinical sequelae are crucial to the maintenance of ideal LOS and optimal patient outcomes.
PMCID:4516748
PMID: 26225324
ISSN: 2193-6331
CID: 1698362
Gender and age predict outcomes of cognitive, balance and vision testing in a multidisciplinary concussion center
Benedict, Peter A; Baner, Natali V; Harrold, G Kyle; Moehringer, Nicholas; Hasanaj, Lisena; Serrano, Liliana P; Sproul, Mara; Pagnotta, Geraldine; Cardone, Dennis A; Flanagan, Steven R; Rucker, Janet; Galetta, Steven L; Balcer, Laura J
OBJECTIVE: This study examined components of the Sports Concussion Assessment Tool, 3rd Edition (SCAT3) and a vision-based test of rapid number naming (King-Devick [K-D]) to evaluate sports and non-sports concussion patients in an outpatient, multidisciplinary concussion center. While the Symptom Evaluation, Standardized Assessment of Concussion (SAC), modified Balance Error Scoring System (BESS), and K-D are used typically for sideline assessment, their use in an outpatient clinical setting following concussion has not been widely investigated. METHODS: K-D, BESS, SAC, and SCAT3 Symptom Evaluation scores were analyzed for 206 patients who received concussion care at the Concussion Center at NYU Langone Medical Center. Patient age, gender, referral data, mechanism of injury, time between concussive event and first concussion center appointment, and the first specialty service to evaluate each patient were also analyzed. RESULTS: In this cohort, Symptom Evaluation scores showed a higher severity and a greater number of symptoms to be associated with older age (r=0.31, P=0.002), female gender (P=0.002, t-test), and longer time between the concussion event and first appointment at the concussion center (r=0.34, P=0.008). Performance measures of K-D and BESS also showed associations of worse scores with increasing patient age (r=0.32-0.54, P=0.001), but were similar among males and females and across the spectrum of duration since the concussion event. Patients with greater Symptom Severity Scores also had the greatest numbers of referrals to specialty services in the concussion center (r=0.33, P=0.0008). Worse Immediate Memory scores on SAC testing correlated with slower K-D times, potentially implicating the dorsolateral prefrontal cortex as a commonly involved brain structure. CONCLUSION: This study demonstrates a novel use of sideline concussion assessment tools for evaluation in the outpatient setting, and implicates age and gender as predictors of outcomes for these tests.
PMID: 25953343
ISSN: 1878-5883
CID: 1569682
Compound heterozygous PNPLA6 mutations cause Boucher-Neuhauser syndrome with late-onset ataxia [Case Report]
Deik, A; Johannes, B; Rucker, J C; Sanchez, E; Brodie, S E; Deegan, E; Landy, K; Kajiwara, Y; Scelsa, S; Saunders-Pullman, R; Paisan-Ruiz, C
PNPLA6 mutations, known to be associated with the development of motor neuron phenotypes, have recently been identified in families with Boucher-Neuhauser syndrome. Boucher-Neuhauser is a rare autosomal recessive syndrome characterized by the co-occurrence of cerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy. Gait ataxia in Boucher-Neuhauser usually manifests before early adulthood, although onset in the third or fourth decade has also been reported. However, given the recent identification of PNPLA6 mutations as the cause of this condition, the determining factors of age of symptom onset still need to be established. Here, we have identified a sporadic Boucher-Neuhauser case with late-onset gait ataxia and relatively milder retinal changes due to compound heterozygous PNPLA6 mutations. Compound heterozygosity was confirmed by cloning and sequencing the patient's genomic DNA from coding exons 26-29. Furthermore, both mutations (one novel and one known) fell in the phospholipase esterase domain, where most pathogenic mutations seem to cluster. Taken together, we herein confirm PNPLA6 mutations as the leading cause of Boucher-Neuhauser syndrome and suggest inquiring about a history of hypogonadism or visual changes in patients presenting with late-onset gait ataxia. We also advocate for neuroophthalmologic evaluation in suspected cases.
PMCID:4245359
PMID: 25267340
ISSN: 1432-1459
CID: 2272042
Mirror movements identified in patients with moebius syndrome
Webb, Bryn D; Frempong, Tamiesha; Naidich, Thomas P; Gaspar, Harald; Jabs, Ethylin Wang; Rucker, Janet C
BACKGROUND: Moebius syndrome is a rare disorder with minimum clinical criteria of congenital facial weakness in association with impairment in abduction of one or both eyes. Mirror movements are not known to be associated with Moebius syndrome. CASE REPORT: We present three patients who meet minimum criteria for a diagnosis of Moebius syndrome and who also display mirror movements. DISCUSSION: This case series suggests that Moebius syndrome may be associated with mirror movements. Further investigation to delineate the genetic etiologies of Moebius syndrome is ongoing. Patients with Moebius syndrome and mirror movements may represent a specific subclass of this disorder.
PMCID:4107286
PMID: 25120946
ISSN: 2160-8288
CID: 1141852
Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes
Rucker, Janet C; Webb, Bryn D; Frempong, Tamiesha; Gaspar, Harald; Naidich, Thomas P; Jabs, Ethylin Wang
Congenital facial weakness is present in a heterogeneous group of conditions. Among them is Moebius syndrome, which has been defined as a disorder with congenital, non-progressive facial weakness and limited abduction of one or both eyes. It is typically attributed to agenesis of the abducens and facial cranial nerves. This paper details ocular motor findings of 40 subjects (23 months to 64 years; 24 females, 16 males) with congenital facial weakness: 38 presented at a Moebius Syndrome Conference and two were clinic patients. A new classification scheme of patterns based on ocular motor phenotype is presented. Of 40 subjects, 37 had bilateral and three had unilateral facial weakness. The most common ocular motor pattern (Pattern 1, n=17, 43%) was bilateral horizontal gaze palsy with intact vertical range. Pattern 2 (n=10, 26%) was bilateral horizontal gaze palsy with variable vertical limitations. Pattern 3, which was rare, was isolated abduction deficits (n=2, 5%). Others had full motility range and did not meet minimal criteria for the diagnosis of Moebius syndrome (Pattern 4, n=10, 26%). One subject was too severely affected to characterize. Abnormal vertical smooth pursuit was present in 17 (57%) of 30 subjects: nine with Pattern 1, five with Pattern 2, and three with Pattern 4. Abnormal vertical saccades were present in 10 (34%) of 29 subjects. Vertical saccades appeared slow in nine: six with Pattern 1 and three with Pattern 2. Vertical saccades were absent in one subject with Pattern 2. Abnormal vertical optokinetic nystagmus was present in 19 (68%) of 28 subjects: 10 with Pattern 1, six with Pattern 2, one with Pattern 3, and two with Pattern 4. Reduced convergence was present in 19 (66%) of 29 subjects: nine with Pattern 1, six with Pattern 2, one with Pattern 3, and three with Pattern 4. The most common pattern of ocular motor deficit in Moebius syndrome is bilateral horizontal gaze palsy from pontine abducens nuclear defects, rather than abducens nerve involvement. Defects in the range or dynamic properties of vertical movements in subjects with congenital facial weakness may suggest involvement of ocular motor structures in the midbrain, including oculomotor nerves or nuclei, vertical supranuclear saccadic centres, and convergence neurons. Such deficits were found even in subjects with full vertical motility range. Classification of patterns of ocular motor deficits in congenital facial weakness may assist with further delineation of anatomic localization and identification of genetic deficits underlying these disorders.
PMCID:3959556
PMID: 24561559
ISSN: 0006-8950
CID: 1037692
Progressive supranuclear palsy-like syndrome after aortic aneurysm repair: a case series
Nandipati, Sirisha; Rucker, Janet C; Frucht, Steven J
The syndrome of progressive supranuclear palsy-like syndrome is a rare complication of ascending aortic aneurysm repair. We report two patients with videos and present a table of prior reported cases. To our knowledge there is no previously published video of this syndrome. The suspected mechanism is brainstem injury though neuroimaging is often negative for an associated infarct. We hope our report will increase recognition of this syndrome after aortic surgery, especially in patients with visual complaints.
PMCID:3859893
PMID: 24386607
ISSN: 2160-8288
CID: 1037702
Atypical Chediak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease
Weisfeld-Adams, James D; Mehta, Lakshmi; Rucker, Janet C; Dembitzer, Francine R; Szporn, Arnold; Lublin, Fred D; Introne, Wendy J; Bhambhani, Vikas; Chicka, Michael C; Cho, Catherine
BACKGROUND: Mutations in LYST, a gene encoding a putative lysosomal trafficking protein, cause Chediak-Higashi syndrome (CHS), an autosomal recessive disorder typically characterized by infantile-onset hemophagocytic syndrome and immunodeficiency, and oculocutaneous albinism. A small number of reports of rare, attenuated forms of CHS exist, with affected individuals exhibiting progressive neurodegenerative disease beginning in early adulthood with cognitive decline, parkinsonism, features of spinocerebellar degeneration, and peripheral neuropathy, as well as subtle pigmentary abnormalities and subclinical or absent immune dysfunction. METHODS: In a consanguineous Pakistani kindred with clinical phenotypes consistent with attenuated CHS, we performed SNP array-based homozygosity mapping and whole gene sequencing of LYST. RESULTS: We identified three individuals homozygous for a novel six base pair in-frame deletion in LYST (c.9827_9832ATACAA), predicting the loss of asparagine and threonine residues from the LYST transcript (p.Asn3276_Thr3277del), and segregating with the phenotype in this family. CONCLUSIONS: We further characterize the neurologic features of the attenuated form of CHS, and discuss pathophysiologic mechanisms underlying the neurodegenerative components of CHS. Attenuated CHS is phenotypically heterogenous and should be considered when young adults develop neurodegenerative disease and have pigmentary abnormalities. We briefly discuss surveillance and management of patients with CHS-related neurodegeneration.
PMCID:3610301
PMID: 23521865
ISSN: 1750-1172
CID: 1037712