Olga Klepitskaya

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BACKGROUND Carriers of fragile X mental retardation 1 (FMR1) repeat expansions in the premutation range (55-200 CGG repeats) often develop a syndrome of kinetic tremor, cerebellar ataxia, and parkinsonism; designated the fragile X-associated tremor ataxia syndrome (FXTAS). Neurological signs have not been reported in carriers of gray zone (45-54 CGG(More)
To identify the causal gene in a multi-incident U.S. kindred with Parkinson’s disease (PD). We characterized a family with a classical PD phenotype in which 7 individuals (5 males and 2 females) were affected with a mean age at onset of 46.1 years (range, 29-57 years). We performed whole exome sequencing on 4 affected and 1 unaffected family members.(More)
PURPOSE Intensive voice therapy (LSVT(®)LOUD) can effectively manage voice and speech symptoms associated with idiopathic Parkinson disease (PD). This small-group study evaluated voice and speech in individuals with and without deep brain stimulation of the subthalamic nucleus (STN-DBS) before and after LSVT LOUD, to determine whether outcomes for surgical(More)
Surgical approaches are an important consideration in the management of many movement disorders, particularly for patients refractory to medications. In this article, we review the history, pathophysiology, risks and indications for surgical treatment. Summaries of case studies, case series and clinical trials performed using deep brain stimulation are(More)
Considerable research has focused on patients with trinucleotide (CGG) repeat expansions in the fragile X mental retardation 1 (FMR1) gene that fall within either the full mutation (>200 repeats) or premutation range (55–200 repeats). Recent interest in individuals with gray zone expansions (41–54 CGG repeats) has grown due to reported phenotypes that are(More)
“Mr.R,” a 66-year-oldwhitemanwith a 15-yearhistory of Parkinson’s disease, was evaluated for surgical implantation of electrodes for deep brain stimulation (DBS). Initial neuropsychological testing showed nearly normal cognitive functioningwith an isolatedmild tomoderate impairment on onemeasure of semantic verbal fluency. Mr. R’s history and presurgical(More)
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