Constructing a multicenter neuroimaging dataset to unveil structural brain alterations in GNAO1-related disorders
Objective: This study aims to construct a reliable neuroimaging dataset to assess the impact of GNAO1 mutations on brain development. Background: GNAO1-related disorders (GNAO1-RD) are…Biallelic Variants in ACER3 Encoding Alkaline Ceramidase 3 Cause Infantile- and Early-Childhood-Onset Neurodegeneration with Progressive Leukodystrophy
Objective: To delineate the clinical phenotype and molecular spectrum of alkaline ceramidase 3 -related disease (ACER3-RD) by characterizing 60 patients from 55 independent families. Background:…Action-Induced Dystonic Opisthotonus as an Atypical Presentation in Ataxia Telangiectasia
Objective: We present a rare case of Ataxia-telangiectasia (AT) characterized by intermittent action-induced dystonic opisthotonus causing frequent vomiting after meals intake [figure1]. Background: AT is…Focal Dystonic Hand Tremor Secondary to Distal Traumatic Peripheral Nerve Injury
Objective: To report a case of focal hand dystonic tremor secondary to distal post-traumatic peripheral nerve injury with a review of relevant literature. Background: Post-traumatic…Painful Legs Moving Toes Syndrome in Rural Western India: Etiological Spectrum and Outcomes in 24 Cases
Objective: To characterize clinical profiles, etiological patterns, and therapeutic outcomes of Painful Legs Moving Toes syndrome [PLMTS] patients in a rural Indian neurology practice. Background:…Activity and Position-Dependent Hemifacial Spasm Caused by Neurovascular Compression: A Case Report
Objective: To describe a case of activity and position-dependent hemifacial spasm (HFS) Background: Similar case reports include: HFS induced by turning to the left after…Pain Assessment in Cervical Dystonia: Insights from the PIDS and Dystonia-PCS Scales
Objective: To assess pain in patients with cervical dystonia using Pain in Dystonia Scale (PIDS) and Dystonia-Pain Classification System (Dystonia-PCS). Background: Dystonia is a heterogeneous…Tourette – Like Phenotypes Following Combined Striatal Interneuron Loss.
Objective: To determine whether the ablation of Nkx2.1 derived striatal interneurons (SI) in mice produces Tourette-like phenotypes including abnormal movements and perseverative behaviors. Background: Tourette…The identification of two novel intronic variants of the SPG4/SPAST gene with pathogenic effect reveals a novel genotype-phenotype correlation
Objective: To perform clinical and genetic analysis of two large families with autosomal dominant hereditary spastic paraplegia (ADHSP). Background: Hereditary spastic paraplegia (HSP) is a…Case Report of a Brazilian Family With New VUS for PLAN
Objective: The aim is to describe a Brazilian family with new VUS of PLA2G6 in two brothers with clinical symptoms of PLAN. Background: PLAN is…
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