Movement Disorders

Tamara Perez‐Rosello, Simon Gelman, Geoffrey Tombaugh, Roger Cachope, Vahri Beaumont, D. James Surmeier February 7, 2019

ABSTRACT

Background

Huntington’s disease (HD) is caused by a CAG repeat expansion in the huntingtin gene. This mutation leads to progressive dysfunction that is largely attributable to dysfunction of the striatum. The earliest signs of striatal pathology in HD are found in indirect pathway gamma‐Aminobutyric acid (GABA)‐ergic spiny projection neurons that innervate the external segment of the globus pallidus (GPe).… Read More...

Daniel Ysselstein, Joshua M. Shulman, Dimitri Krainc February 7, 2019

ABSTRACT

Lysosomal storage disorders comprise a clinically heterogeneous group of autosomal‐recessive or X‐linked genetic syndromes caused by disruption of lysosomal biogenesis or function resulting in accumulation of nondegraded substrates. Although lysosomal storage disorders are diagnosed predominantly in children, many show variable expressivity with clinical presentations possible later in life.… Read More...

Haidar S. Dafsari, Pablo Martinez‐Martin, Alexandra Rizos, Maja Trost, Maria Gabriela Santos Ghilardi, Prashanth Reddy, Anna Sauerbier, Jan Niklas Petry‐Schmelzer, Milica Kramberger, Robbert W. K. Borgemeester, Michael T. Barbe, Keyoumars Ashkan, Monty Silverdale, Julian Evans, Per Odin, Erich Talamoni Fonoff, Gereon R. Fink, Tove Henriksen, Georg Ebersbach, Zvezdan Pirtošek, Veerle Visser‐Vandewalle, Angelo Antonini, Lars Timmermann, K. Ray Chaudhuri, on behalf of EUROPAR and the International Parkinson and Movement Disorders Society Non‐Motor Parkinson's Disease Study Group February 5, 2019

Abstract

Objective

Real‐life observational report of clinical efficacy of bilateral subthalamic stimulation (STN‐DBS), apomorphine (APO), and intrajejunal levodopa infusion (IJLI) on quality of life, motor, and nonmotor symptoms (NMS) in Parkinson’s disease (PD).

Methods

In this prospective, multicenter, international, real‐life cohort observation study of 173 PD patients undergoing STN‐DBS (n = 101), IJLI (n = 33), or APO (n = 39) were followed‐up using PDQuestionnaire‐8, NMSScale (NMSS), Unified PD Rating Scale (UPDRS)‐III, UPDRS‐IV, and levodopa equivalent daily dose (LEDD) before and 6 months after intervention.… Read More...

Cyril Atkinson‐Clement, Émilie Cavazzini, Alexandre Zénon, Tatiana Witjas, Frédérique Fluchère, Jean‐Philippe Azulay, Christelle Baunez, Alexandre Eusebio January 26, 2019

ABSTRACT

Background

Parkinson’s disease (PD) is frequently associated with behavioral disorders, particularly within the spectrum of motivated behaviors such as apathy or impulsivity. Both pharmacological and neurosurgical treatments have an impact on these impairments. However, there still is controversy as to whether subthalamic nucleus deep brain stimulation (STN‐DBS) can cause or reduce impulsive behaviors.… Read More...

Xuemei Huang, Nicholas W. Sterling, Guangwei Du, Dongxiao Sun, Christina Stetter, Lan Kong, Yusheng Zhu, Jeffery Neighbors, Mechelle M. Lewis, Honglei Chen, Raymond J. Hohl, Richard B. Mailman January 26, 2019

ABSTRACT

Background

Circulating cholesterol levels have been linked to PD, but not directly to brain physiology.

Objective

To assess whether brain cholesterol metabolism is related to PD.

Methods

Sixty PD patients and 64 controls were recruited from an academic movement disorder clinic (2009–2012).… Read More...

Sara Bandres‐Ciga, Sara Saez‐Atienzar, Luis Bonet‐Ponce, Kimberley Billingsley, Dan Vitale, Cornelis Blauwendraat, Jesse Raphael Gibbs, Lasse Pihlstrøm, Ziv Gan‐Or, The International Parkinson's Disease Genomics Consortium (IPDGC), Mark R. Cookson, Mike A. Nalls, Andrew B. Singleton January 24, 2019

ABSTRACT

Background

PD is a complex polygenic disorder. In recent years, several genes from the endocytic membrane‐trafficking pathway have been suggested to contribute to disease etiology. However, a systematic analysis of pathway‐specific genetic risk factors is yet to be performed.

Objectives

To comprehensively study the role of the endocytic membrane‐trafficking pathway in the risk of PD.… Read More...

Giovanni Hernandez, Souha Mahmoudi, Michel Cyr, Jorge Diaz, Pierre J. Blanchet, Daniel Lévesque January 24, 2019

Abstract

Background

Tardive dyskinesia is a delayed and potentially irreversible motor complication arising from chronic exposure to antipsychotic drugs. Interaction of antipsychotic drugs with G protein‐coupled receptors triggers multiple intracellular events. Nevertheless, signaling pathways that might be associated with chronic unwanted effects of antipsychotic drugs remain elusive.… Read More...

Andoird App
Loading...