“Ears of the Lynx” Sign on Brain MRI in Siblings With Spastic Paraplegia: A Case Report
Annals of the Child Neurology SocietyBackground Hereditary spastic paraplegia (HSP) is a rare, clinically and genetically heterogenous condition that selectively affects the terminal segment of the descending corticospinal tract of the lumbar spine area, causing lower extremity spastic ...
Qingqing Wang, Manikum Moodley
doaj +1 more source
Outcome of caudal lumbosacral selective posterior rhizotomy in the management of spastic diplegia due to cerebral palsy (a prospective cohort study in 35 children) [PDF]
, 2017 openalex +1 more source
Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review
Movement Disorders Clinical Practice, EarlyView.Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes +6 more
wiley +1 more source
PNPT1 Spectrum Disorders: An Underrecognized and Complex Group of Neurometabolic Disorders
MusclesAn 18-year-old man presented with slowly progressive infancy-onset spasticity of the lower limbs and cerebellar ataxia, associated with painless strabismus, intellectual disability, urinary incontinence, bilateral progressive visual loss, and cognitive ...
Paulo Sgobbi +18 more
doaj +1 more source
A targeted gene panel that covers coding, non-coding and short tandem repeat regions improves the diagnosis of patients with neurodegenerative diseases [PDF]
, 2019 Genetic testing for neurodegenerative diseases (NDs) is highly challenging because of genetic heterogeneity and overlapping manifestations. Targeted-gene panels (TGPs), coupled with next-generation sequencing (NGS), can facilitate the profiling of a ...
Au, Wing Chi +11 more
core +1 more source
Paroxysmal Dyskinesia with a Novel Variant in the Histone 3 Family 3B (H3‐3B) Gene
Movement Disorders Clinical Practice, EarlyView.
Gianluca D'Onofrio +3 more
wiley +1 more source
Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia
Movement Disorders, EarlyView.Abstract Background Although many individuals with dystonia present with features indicative of single‐gene etiologies, obtaining definitive genetic diagnoses can be challenging. Objective We assessed the value of nanopore‐based long‐read sequencing (LRS) in achieving molecular clarification of dystonic syndromes.
Ugo Sorrentino +30 more
wiley +1 more source
In silico computation of functional SNPs of CYP2U1 protein leading to hereditary spastic paraplegia
, 2021 Ammara Akhtar +2 more
openalex +1 more source
Movement Disorders, EarlyView.Abstract Background Friedreich's ataxia is a rare, neurodegenerative, multisystem disorder. While ataxia is a hallmark, non‐ataxia signs, including muscle weakness, spasticity, and dysphagia are equally disabling. The Inventory of Non‐Ataxia Signs (INAS) is a symptom list transformable to a 16‐item count.
Stella Andrea Lischewski +23 more
wiley +1 more source