Affiliation: University of Rochester
- Quantitative telemedicine ratings in Batten disease: implications for rare disease researchJ Cialone
University of Rochester, Rochester, NY, USA
Neurology 77:1808-11. 2011..To determine if remote administration of the Unified Batten Disease Rating Scale (UBDRS) Physical Impairment subscale by telemedicine is reliable and feasible across a broad range of disease severity...
- New treatments for tic disordersMohammad M Qasaymeh
Child Neurology, Box 631, University of Rochester Medical Center, 601 Elmwood Avenue, Rochester, NY 14642, USA
Curr Treat Options Neurol 8:465-73. 2006..Start with 0.01 mg/kg/dose once a day; dosage may be increased by 0.02 mg/kg/day at weekly intervals, up to 0.06 mg/kg/dose once a day. Ziprasidone and olanzapine are reasonable alternatives...
- Paroxysmal dyskinesiasJonathan W Mink
Department of Neurology, University of Rochester, Rochester, New York 14642, USA
Curr Opin Pediatr 19:652-6. 2007..Substantial progress has been made recently in understanding characteristic features of the paroxysmal dyskinesias and underlying genetic causes. This review summarizes the most important findings and discusses their implications...
- Patient selection and assessment recommendations for deep brain stimulation in Tourette syndromeJonathan W Mink
Department of Neurology, University of Rochester, Rochester, New York, USA
Mov Disord 21:1831-8. 2006....
- Clinical review of DBS for Tourette SyndromeJonathan W Mink
Department of Neurology, University of Rochester School of Medicine and Dentistry, 601 Elmwood Ave, Box 631, Rochester, NY 14642, USA
Front Biosci (Elite Ed) 1:72-6. 2009..Accumulating data have been sufficiently promising to justify further study. Yet, many questions remain. Systematic, controlled, collaborative studies are required to answer the many questions that remain...
- The Basal Ganglia and involuntary movements: impaired inhibition of competing motor patternsJonathan W Mink
Departments of Neurology, Neurobiology, and Anatomy, and Pediatrics, University of Rochester School of Medicine, Rochester, NY 14642, USA
Arch Neurol 60:1365-8. 2003..A new model is presented here, building on existing models and data to encompass hypotheses of the fundamental pathophysiologic mechanisms underlying chorea, dystonia, and tics...
- Progressive myoclonus in a child with a deep cerebellar massJonathan W Mink
University of Rochester School of Medicine and Golisano Children s Hospital at Strong, Rochester, NY, USA
Neurology 61:829-31. 2003..They hypothesize that abnormal paroxysmal discharge of neurons in the cerebellar nuclei can generate myoclonus...
- Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotypeJennifer M Kwon
Department of Neurology, 601 Elmwood Avenue, Box 631, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
Neurosci Lett 387:111-4. 2005..She had classical disease progression, suggesting that this mutation in CLN3 mimics the more prevalent 1 kb deletion and that progression of JNCL is predominantly the result of loss of CLN3 function...
- Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease)Heather R Adams
Division of Child Neurology, University of Rochester Medical Center, 601 Elmwood Avenue, Rochester, NY 14642, USA
Dev Med Child Neurol 52:637-43. 2010..The secondary aim was to cross-validate the Child Behavior Checklist (CBCL) and the Unified Batten Disease Rating Scale (UBDRS), a disease-specific JNCL rating scale...
- Neuropsychological symptoms of juvenile-onset batten disease: experiences from 2 studiesHeather R Adams
University of Rochester School of Medicine and Dentistry, Rochester, New York, USA
J Child Neurol 22:621-7. 2007....
- Standardized assessment of behavior and adaptive living skills in juvenile neuronal ceroid lipofuscinosisHeather Adams
University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
Dev Med Child Neurol 48:259-64. 2006..Longitudinal assessment of behavioral and psychiatric symptoms and functional abilities is continuing and will provide much-needed data on the natural history of JNCL...
- Bilateral deep brain stimulation for treatment of medically refractory paroxysmal nonkinesigenic dyskinesiaChristian B Kaufman
Department of Neurosurgery, University of Rochester, New York, USA
J Neurosurg 112:847-50. 2010..This treatment strategy deserves further prospective investigation, clinical consideration, and refinement...
- Recent advances in Tourette syndrome researchRoger L Albin
Geriatrics Research, Education, and Clinical Center, Ann Arbor VAMC, Department of Neurology, University of Michigan, MI 48109, USA
Trends Neurosci 29:175-82. 2006..These lines of research have provided new pieces to the TS puzzle, and their increasing convergence is showing how those pieces can be put together...
- Neurobiology of basal ganglia and Tourette syndrome: basal ganglia circuits and thalamocortical outputsJonathan W Mink
Department of Neurology, Neurobiology and Anatomy, Pediatrics, University of Rochester, New York, USA
Adv Neurol 99:89-98. 2006..Continuing work on basic basal ganglia physiology, pathophysiology, and functional imaging in TS is advancing our knowledge of neural circuit abnormalities in TS, but much more work is still needed...
- Dysfunction of dopaminergic pathways in dystoniaJoel S Perlmutter
Departments of Neurology, Radiology, and Anatomy and Neurobiology, Washington University School of Medicine, St Louis, Missouri, USA
Adv Neurol 94:163-70. 2004
- Safety and efficacy of subthalamic nucleus deep brain stimulation performed with limited intraoperative mapping for treatment of Parkinson's diseaseSamer D Tabbal
Department of Neurology, Washington University School of Medicine, St Louis, Missouri 63110, USA
Neurosurgery 61:119-27; discussion 127-9. 2007....
- Unilateral subthalamic nucleus stimulation has a measurable ipsilateral effect on rigidity and bradykinesia in Parkinson diseaseSamer D Tabbal
Department of Neurology, Washington University in St Louis, 4525 Scott Avenue, St Louis, MO 63130, USA
Exp Neurol 211:234-42. 2008..Bilateral deep brain stimulation (DBS) of the subthalamic nucleus (STN) improves motor function in Parkinson disease (PD). However, little is known about the quantitative effects on motor behavior of unilateral STN DBS...
- Deep brain stimulationJoel S Perlmutter
Department of Neurology, Washington University School of Medicine, Washington University, St Louis, Missouri 63110, USA
Annu Rev Neurosci 29:229-57. 2006..Although we review relevant clinical issues, we emphasize the importance of current and future investigations on these topics...
- Postural tremor suppression is dependent on thalamic stimulation frequencyMwiza Ushe
Department of Neurology, Washington University, St Louis, Missouri, USA
Mov Disord 21:1290-2. 2006....
- Relative risk of spread of symptoms among the focal onset primary dystoniasElliott M Weiss
Department of Neurology, Washington University School of Medicine, St Louis, Missouri, USA
Mov Disord 21:1175-81. 2006..Different sites of onset of PTD confer different risks of spread, important for clinical prognosis. Different risks of spread may provide clues about underlying pathogenesis of adult-onset primary dystonias...
- Clinical features and comorbidity of mood fluctuations in Parkinson's diseaseBrad A Racette
Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, Box 8111, St Louis, MO 63110, USA
J Neuropsychiatry Clin Neurosci 14:438-42. 2002..This association remained after removing effects of age and disease duration...
- Psychogenic movement disorders in childrenDouglas B Kirsch
Department of Neurology, University of Rochester School of Medicine and Strong Memorial Hospital, New York 14642, USA
Pediatr Neurol 30:1-6. 2004..Review of the current literature reveals a need for prospective trials to provide a solid foundation for better diagnosis and treatment of these disorders...
- Effect of stimulation frequency on tremor suppression in essential tremorMwiza Ushe
Department of Neurology, Washington University in St Louis, St Louis, Missouri, USA
Mov Disord 19:1163-8. 2004..Second, thalamic DBS provides tremor benefit in a graded manner and is not an all-or-nothing phenomenon...
- Classification and definition of disorders causing hypertonia in childhoodTerence D Sanger
Department of Neurology and Neurological Sciences, Stanford University Medical Center, Stanford, California 94305 5235, USA
Pediatrics 111:e89-97. 2003..The definitions presented here are designed to allow differentiation of clinical features even when more than 1 is present simultaneously...
- Movement disorders in childrenBradley L Schlaggar
Washington University School of Medicine and St Louis Children s Hospital, St Louis, MO, USA
Pediatr Rev 24:39-51. 2003
- Masturbation in infancy and early childhood presenting as a movement disorder: 12 cases and a review of the literatureMichele L Yang
Department of Child Neurology, Children s Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA
Pediatrics 116:1427-32. 2005..The purpose of this case series is to describe consistent features in young children with posturing accompanying masturbation...
- Abnormal circuit function in dystoniaJonathan W Mink
Neurology 66:959. 2006
- Prospective open-label clinical trial of trihexyphenidyl in children with secondary dystonia due to cerebral palsyTerence D Sanger
Stanford University, Stanford, California, USA
J Child Neurol 22:530-7. 2007..A larger, randomized prospective trial stratified by the presence or absence of hyperkinetic movements is needed to confirm these results...
- Using functional neuroimaging to study the brain's response to deep brain stimulationTamara Hershey
Neurology 66:1142-3. 2006