Movement Disorders

Nobutaka Sakae, Keith A. Josephs, Irene Litvan, Melissa E. Murray, Ranjan Duara, Ryan J. Uitti, Zbigniew K. Wszolek, Neil R. Graff‐Radford, Dennis W. Dickson August 22, 2019

Abstract

Background

Progressive supranuclear palsy (PSP) is a neurodegenerative disorder characterized by neuronal loss in the extrapyramidal system with pathologic accumulation of tau in neurons and glia. The most common clinical presentation of PSP, referred to as Richardson syndrome, is that of atypical parkinsonism with vertical gaze palsy, axial rigidity, and frequent falls.… Read More...

Nobutaka Sakae, Keith A. Josephs, Irene Litvan, Melissa E. Murray, Ranjan Duara, Ryan J. Uitti, Zbigniew K. Wszolek, Neil R. Graff‐Radford, Dennis W. Dickson August 22, 2019

Abstract

Background

Progressive supranuclear palsy (PSP) is a neurodegenerative disorder characterized by neuronal loss in the extrapyramidal system with pathologic accumulation of tau in neurons and glia. The most common clinical presentation of PSP, referred to as Richardson syndrome, is that of atypical parkinsonism with vertical gaze palsy, axial rigidity, and frequent falls.… Read More...

Nobutaka Sakae, Keith A. Josephs, Irene Litvan, Melissa E. Murray, Ranjan Duara, Ryan J. Uitti, Zbigniew K. Wszolek, Neil R. Graff‐Radford, Dennis W. Dickson August 22, 2019

Abstract

Background

Progressive supranuclear palsy (PSP) is a neurodegenerative disorder characterized by neuronal loss in the extrapyramidal system with pathologic accumulation of tau in neurons and glia. The most common clinical presentation of PSP, referred to as Richardson syndrome, is that of atypical parkinsonism with vertical gaze palsy, axial rigidity, and frequent falls.… Read More...

Gabriel Gonzalez‐Escamilla, Muthuraman Muthuraman, Martin M. Reich, Nabin Koirala, Christian Riedel, Martin Glaser, Florian Lange, Günther Deuschl, Jens Volkmann, Sergiu Groppa August 22, 2019

Abstract

Background

Deep brain stimulation (DBS) is an effective evidence‐based therapy for dystonia. However, no unequivocal predictors of therapy responses exist. We investigated whether patients optimally responding to DBS present distinct brain network organization and structural patterns.

Methods

From a German multicenter cohort of 82 dystonia patients with segmental and generalized dystonia who received DBS implantation in the globus pallidus internus, we classified patients based on the clinical response 3 years after DBS.… Read More...

Alfonso Fasano, Rick C. Helmich August 22, 2019

Abstract

DBS of the ventral intermediate nucleus is an extremely effective treatment for essential tremor, although a waning benefit is observed after a variable time in a variable proportion of patients (ranging from 0% to 73%), a concept historically defined as “tolerance.” Tolerance is currently an established concept in the medical community, although there is debate on its real existence.… Read More...

Martin Gorges, Barbara Kuntz, Kelly Del Tredici, Daniel G. Schmidt, Hans‐Peter Müller, Albert C. Ludolph, Luc Dupuis, Jan Kassubek August 22, 2019

ABSTRACT

Background

The pathophysiology of the hypothalamic involvement in Parkinson’s disease (PD) is not well understood. The objective of this study was the quantification of hypothalamic volumes in vivo in PD.

Methods

High‐resolution T1‐weighted magnetic resonance imaging (MRI) data from 232 individuals with PD and 130 healthy non‐PD individuals were used for quantification of the hypothalamic volumes.… Read More...

Beatriz De la Casa‐Fages, Gorka Fernández‐Eulate, Josep Gamez, Raúl Barahona‐Hernando, Germán Morís, María García‐Barcina, Jon Infante, Miren Zulaica, Uxoa Fernández‐Pelayo, Mikel Muñoz‐Oreja, Miguel Urtasun, Ander Olaskoaga, Victoria Zelaya, Ivonne Jericó, Raquel Saez‐Villaverde, Irene Catalina, Emma Sola, Elena Martínez‐Sáez, Aurora Pujol, Montserrat Ruiz, Agatha Schlüter, Antonella Spinazzola, Jose Luis Muñoz‐Blanco, Francisco Grandas, Ian Holt, Victoria Álvarez, Adolfo López de Munaín August 22, 2019

Abstract

Background

Pathogenic variants in the spastic paraplegia type 7 gene cause a complicated hereditary spastic paraplegia phenotype associated with classical features of mitochondrial diseases, including ataxia, progressive external ophthalmoplegia, and deletions of mitochondrial DNA.

Objectives

To better characterize spastic paraplegia type 7 disease with a clinical, genetic, and functional analysis of a Spanish cohort of spastic paraplegia type 7 patients.… Read More...

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