Persistent Bilateral Optic Disc Swelling in Non-Syndromic Retinitis Pigmentosa: A Case Report. [PDF]
Am J Case RepAlenazi M, Magliyah MS, Alsakran WA.
europepmc +1 more source
Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic +7 more
wiley +1 more source
A Rare Case Report of Four Bilateral Maxillary Lateral Incisors in a Non-Syndromic Patient. [PDF]
Clin Case RepHosseini-Adib SM, Kazemi M.
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Autoimmune glial fibrillary acidic protein astrocytopathy (GFAP‐A) is an inflammatory central nervous system disorder with variable outcomes. Relapse occurs in a subset of patients, but early predictors remain unclear. We aimed to identify admission‐available features associated with 1‐year recurrence and develop an interpretable ...
Qingting Hong +10 more
wiley +1 more source
Molecular diagnosis of non-syndromic hearing loss in seven Iranian families using whole-exome sequencing. [PDF]
BMC Med GenomicsAbghari FZ +7 more
europepmc +1 more source
Copine‐4 Paraneoplastic Autoimmune Encephalitis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We characterize copine‐4 (CPNE4)‐IgG and report clinical associations. Among 844 samples with unclassified neural IgGs identified by mouse‐brain indirect immunofluorescence assay over 2 years, 5 samples (serum, 3; CSF, 2) from 3 patients produced a distinctive cerebrum‐restricted synaptic pattern.
Mimi S. Fang +12 more
wiley +1 more source
Capturing Phenotypic Heterogeneity in Differentiated Sensory Processing Profiles: Non-Syndromic Autism and Fragile X Syndrome. [PDF]
AutismKnott CE, Roberts JE, Will EA.
europepmc +1 more source
Diffusion Basis Spectrum Imaging of Tissue Microstructure and Early Treatment in Multiple Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Conventional MRI cannot resolve the coexisting pathological processes within multiple sclerosis tissue. Diffusion Basis Spectrum Imaging decomposes the diffusion signal into fiber, cell, and hindered ratios indexing axonal integrity, cellularity, and extracellular space, respectively.
Apisit Kaewsanit +10 more
wiley +1 more source
Non-syndromic Developmental Facial Palsy Co-occurring With Chiari I Malformation: Parallel Manifestations of a Shared Prenatal Disturbance? [PDF]
CureusNaoun AA +2 more
europepmc +1 more source
Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez +5 more
wiley +1 more source