Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort
Abstract Background Deep intronic GAA repeat expansions in intron 1 of the FGF14 gene were identified in 2023 as cause of late‐onset cerebellar ataxia. Since then, GAA‐FGF14‐related ataxia (SCA27B) has emerged as one of the most common genetic causes of late‐onset cerebellar ataxia.
Teije H. van Prooije +26 more
wiley +1 more source
Involvement of Integrated Stress Response in Drug-Induced Secondary Dystonia. [PDF]
Simon TA +3 more
europepmc +1 more source
Types of Pain in Multiple System Atrophy
Abstract Background Pain affects up to 87% of people with multiple system atrophy (MSA), but it remains unclear which types of pain contribute most to the overall burden. Objective To estimate the frequency of different types of pain in MSA individuals.
Nicole Campese +19 more
wiley +1 more source
Call of the Void Scale: scale development, validation and psychometric properties. [PDF]
Wiesmann L, Melzer L, Teismann T.
europepmc +1 more source
Non‐motor Symptom Scales in Pediatric Movement Disorders: A Call for Diagnostic‐Specific Tools
Movement Disorders, EarlyView.
Clément Desjardins +6 more
wiley +1 more source
Monoaminergic Networks of Cognitive and Behavioral Symptoms in Early Parkinson's Disease
Abstract Background Parkinson's disease (PD) is associated with several behavioral and cognitive symptoms, the neurobiological background of which is not yet fully understood. Objectives The aim was to investigate the association between monoamine function and four specific nonmotor symptoms in early PD using the Parkinson's Progression Markers ...
Kalle J. Niemi +3 more
wiley +1 more source
Cerebellar α1<sub>D</sub>- adrenergic receptors mediate stress-induced dystonia in tottering<sup>tg/tg</sup> mice. [PDF]
Bohne P +6 more
europepmc +1 more source
Psychiatric Disorders and Apathy in Mixed Movement Disorders Linked to ADCY5 (MxMD‐ADCY5)
Abstract Background Mixed movement disorders linked to ADCY5 (MxMD‐ADCY5) represent a rare hyperkinetic movement disorder resulting from pathogenic variants in ADCY5. Psychiatric symptoms are suspected to be part of the phenotype. Objective The study aim was to assess psychiatric comorbidities in patients with MxMD‐ADCY5.
Aurélie Méneret +23 more
wiley +1 more source
Episodic Choreo-Dystonic Storm in an Infantile-Onset Movement Disorder: Think of G Protein Subunit Alpha O1 Gene Defect! [PDF]
Saxena M +4 more
europepmc +1 more source
CLINICAL AND PHYSIOLOGIC IMPLICATIONS OF THALAMIC SURGERY FOR DYSTONIA AND TORTICOLLIS.
Irving S. Cooper
openalex +1 more source

