Results 61 to 70 of about 7,623,875 (163)

Apathy in Parkinson's Disease: Distinguishing Overlapping Symptoms Via Network Analysis

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Anxiety, fatigue, and excessive daytime sleepiness (EDS) frequently co‐occur in Parkinson's disease (PD) and can influence the clinical determination of apathy. Objective To distinguish patient‐reported apathy from other non‐motor symptoms.
Joseph Seemiller, Abhimanyu Mahajan, Christopher B. Morrow, Joseph F. McGuire, Dawn Bowers, Kelly A. Mills, Gregory M. Pontone   +6 more
wiley   +1 more source

A novel family with an unusual early onset generalized dystonia.

, 2005
We report on an Italian family in which three brothers and their maternal grandfather had a generalized early-onset dystonia with mild parkinsonian signs.
FABBRINI G, VACCA L, VALENTE EM, MEESAQ A, F. BRANCATI, NEMETH A, SYKES N, DALLAPICCOLA B, BERARDELLI A   +8 more
core   +3 more sources

Genetic Etiologies of Dystonia with Anarthria/Aphonia

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey, Eriberto Rayco, Maziar Emamikhah Abarghouei, Susan H. Fox, Anthony E. Lang, George M. Ibrahim, Carolina Gorodetsky, Christos Ganos   +7 more
wiley   +1 more source

A Gap Analysis of Deep Brain Stimulation for Childhood‐Onset Movement Disorders

Movement Disorders, EarlyView.
Abstract Background Deep brain stimulation (DBS) is an established and increasingly utilized therapy for childhood‐onset movement disorders. However, pediatric DBS poses unique challenges that are not adequately addressed by adult‐derived paradigms. Objective To identify key gaps in the current use of DBS in childhood‐onset movement disorders and to ...
Daniela Munoz‐Chesta, Carolina Gorodetsky, Todd M. Herrington, Angela L. Hewitt, Daniel E. Lumsden, Jennifer O'Malley, Terence Sanger   +6 more
wiley   +1 more source

Validation of a screening questionnaire for X‐linked dystonia parkinsonism: The first phase of the population‐based prevalence study of X‐linked dystonia parkinsonism in Panay [PDF]

Neurology and Clinical Neuroscience, 2017
AbstractBackgroundThe current prevalence of X‐linked dystonia parkinsonism is not known. No screening tool for the condition exists. By developing a screening questionnaire, the present study is intended to be the first step in identifying the prevalence of the disease.AimTo develop and validate a simple, easy to use, community‐based, screening ...
Jose Danilo B Diestro, Paul Matthew D Pasco, Lillian V Lee   +2 more
openaire   +1 more source

Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3).

, 2016
X-linked dystonia-parkinsonism (XDP) is a recessive disorder characterized by generalized dystonia with some patients exhibiting parkinsonism. The disease gene, DYT3, is located between DXS453 (DXS993) and DXS559, and strongest linkage disequilibrium is ...

core   +1 more source

Rare‐Variant Burden Analysis of Dystonia Genes in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Dystonia frequently coexists with Parkinson's disease (PD), yet the extent of genetic overlap remains insufficiently explored. Objective The aim was to examine whether rare variants in dystonia‐related genes are associated with PD or early‐onset PD (EOPD).
Sajanth Kanagasingam, Sitki Cem Parlar, Lang Liu, Ziv Gan‐Or, Konstantin Senkevich   +4 more
wiley   +1 more source

Defects in the striatal neuropeptide Y system in X-linked dystonia-parkinsonism [PDF]

Brain, 2013
Neuropeptide Y is a novel bioactive substance that plays a role in the modulation of neurogenesis and neurotransmitter release, and thereby exerts a protective influence against neurodegeneration. Using a sensitive immunohistochemical method with a tyramide signal amplification protocol, we performed a post-mortem analysis to determine the striatal ...
Satoshi, Goto, Toshitaka, Kawarai, Ryoma, Morigaki, Shinya, Okita, Hidetaka, Koizumi, Shinji, Nagahiro, Edwin L, Munoz, Lillian V, Lee, Ryuji, Kaji   +8 more
openaire   +2 more sources

ATXN8OS Intermediate Expansion Acts as a Genetic Modifier in Spinocerebellar Ataxia Type 48 (SCA48/STUB1)

Movement Disorders, EarlyView.
Abstract Background Association between monoallelic STUB1 variant and expanded ATXN8OS alleles was recently reported, suggesting a pathogenic interaction that may influence spinocerebellar ataxia type 48 (SCA48) phenotype. Objectives We investigated the frequency and clinical impact of ATXN8OS in a large cohort of STUB1 carriers compared to individuals
Charlotte Mouraux, Jean‐Loup Méreaux, Claire‐Sophie Davoine, Léna Guillot Noel, Emilien Petit, Quentin Thomas, Adem Nasraoui, Anna Heinzmann, Claire Ewenczyk, Alexis Brice, Alexandra Durr, Giulia Coarelli   +11 more
wiley   +1 more source

De novo variants in WDR45 underlie beta‐propeller protein‐associated neurodegeneration in five independent families

Molecular Genetics & Genomic Medicine, 2020
Background Beta‐propeller protein‐associated neurodegeneration (BPAN) is a rare, X‐linked dominant neurodegenerative disease mainly characterized by developmental delay, intellectual disability, epilepsy in childhood and dystonia, parkinsonism, dementia ...
Xiaojun Tang, Xiaoping Lan, Xiaozhen Song, Wuhen Xu, Yuanfeng Zhang, Hong Zhang, Shengnan Wu   +6 more
doaj   +1 more source