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Abstract Background Spinocerebellar ataxias comprise a group of neurodegenerative disorders characterized by progressive cerebellar ataxia with clinical and genetic heterogeneity. Autosomal recessive spinocerebellar atax...

We present the case of a lady in her early 20s who developed over a few weeks progressive appendicular and limb ataxia and dysarthria. She was found to have a high titer of voltage-gated calcium channel antibodies (VGCCA...

Abstract Background Cerebellar ataxia (CA) is a neurodegenerative disorder characterized by progressive impairments in coordination, balance, and gait disturbances. Conventional rehabilitation therapies offer only limite...

BackgroundAtaxia-telangiectasia (A-T) is a rare autosomal recessive disorder caused by pathogenic variants in the ATM gene and characterized by genomic instability, immunodeficiency, and a markedly increased risk of canc...

Abstract Background Biallelic SPG7 mutations cause one of the most common forms of hereditary spastic paraplegia (HSP). Several reports have suggested that heterozygous SPG7 variants may also play a role in HSP, but also...

ObjectiveSensory gait ataxia is a core feature of chronic peripheral vestibular disorders, leading to impaired mobility, reduced quality of life, and increased fall risk. Quantitative gait metrics capturing this deficit ...

IntroductionThe T cell receptor excision circle (TREC) assay is an effective neonatal screening tool for severe combined immunodeficiency (SCID), enabling early diagnosis and timely intervention. While genetic analysis o...

Dedicator of cytokinesis 8 (DOCK8) deficiency is a rare autosomal recessive combined immunodeficiency marked by severe atopy, recurrent viral and bacterial infections, high immunoglobulin E, eosinophilia, and lymphopenia...

Spinocerebellar ataxia type 8, a debilitating neurological disease with no effective treatment, is caused by a CAG•CTG expansion mutation. In SCA8 mice, metformin decreases repeat-associated non-AUG proteins and neuroi...

BackgroundTreatment-resistant depression (TRD) is often accompanied by persistent suicidal ideation and poor response to conventional antidepressants. Intranasal esketamine, a non-selective NMDA receptor antagonist, prov...

Abstract Background The spine is an uncommon metastatic location from thyroid cancer. Here, we describe our experience with spinal cord compression as presentation of metastatic thyroid carcinoma, including surgical mana...

Introduction Understanding the relative risk of the fragile X messenger ribonucleoprotein 1 (FMR1) premutation (PM) versus the risk of the PM and parenting a child with fragile X syndrome (FXS) is critical for PM carrier...