Enterovirus A‐71 Associated Parainfectious Movement Disorders in Children
Movement Disorders Clinical Practice, EarlyView.Abstract Background Pediatric movement disorders can be challenging to characterize, given the phenotypic complexity and broad differential diagnosis. While genetic tests are often part of the diagnostic work‐up, it is important to consider acquired causes, which may require specific investigations.
Suus A. M. van Noort +6 more
wiley +1 more source
Widespread Skin Telangiectasias in Spinocerebellar Ataxia Type 27B
Annals of Neurology, EarlyView.
Victor Alm +3 more
wiley +1 more source
Vestibular Dysfunction in Parkinson's Disease: A Systematic Review of Signs and Symptoms
Movement Disorders Clinical Practice, EarlyView.Abstract Background Despite the growing interest in the link between Parkinson's disease (PD) neuropathology and vestibular system, there is still a lack of consensus about the presence of vestibular dysfunctions in PD. Objective This review aims to identify vestibular signs and symptoms reported in PD patients and to summarize and critically appraise ...
Francisco Rosado‐Martins +5 more
wiley +1 more source
Ocular Motor Abnormalities in Functional Neurological Disorder: A Video‐Oculography Study
Movement Disorders Clinical Practice, EarlyView.Abstract Background Functional neurological disorders (FND) can include various sensory, motor or cognitive symptoms. Eye movement recordings, measured through video‐oculography, could serve as biomarkers for characterizing these dysfunctions in FND.
Aude Sangare +13 more
wiley +1 more source
Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia
Movement Disorders, EarlyView.Abstract Background ANK3 encodes ankyrin‐G, a key scaffolding protein essential for neuronal function. While both monoallelic and biallelic ANK3 variants have been linked to neurodevelopmental disorders (NDDs), existing evidence for their pathogenicity and clinical correlation remains limited and heterogeneous.
Reza Maroofian +11 more
wiley +1 more source
GAA‐FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications
Movement Disorders, EarlyView.Abstract Background An intronic (GAA)•(TTC) repeat expansion in FGF14 was recently identified as the cause of spinocerebellar ataxia 27B (SCA27B), a disorder presenting with both chronic cerebellar ataxia and episodic symptoms. The phenotype of SCA27B overlaps with that of CACNA1A spectrum disorders.
Elisabetta Indelicato +11 more
wiley +1 more source
Chinese Journal of Contemporary Neurology and Neurosurgery, 2019 DOI: 10.3969/j.issn.1672-6731.2019.02 ...
Jing WU +4 more
doaj
Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement
JEADV Clinical Practice, EarlyView.
A George
wiley +1 more source
Biallelic Variants in SLC27A3 Cause a Complex Form of Neurodegeneration with Brain Iron Accumulation
Movement Disorders, EarlyView.Abstract Background Complex lipid metabolism is one of the main biological pathways disrupted in neurodegeneration with brain iron accumulation (NBIA). SLC27A3 gene encodes for the very long‐chain acyl‐CoA synthetase 3, an acyl‐CoA ligase that activates long and very long‐chain fatty acids.
Lorena Travaglini +8 more
wiley +1 more source
“Mini Molar Tooth” Sign in POLR3B‐Associated Cerebellar Ataxia with Hypomyelinating Leukodystrophy
Movement Disorders Clinical Practice, EarlyView.
Luca Marsili +5 more
wiley +1 more source