Expanding the adult spectrum of TUBB4A disease: a spasticity–tremor phenotype with network imaging correlates

TUBA4A Pathogenic Variant Manifesting With Adulthood‐Onset Genetic Myasthenic Syndrome, Myopathy, and Infertility

A patient with a TUBA4A pathogenic variant with adulthood‐onset genetic myasthenic syndrome accompanied by myopathy and infertility is described to highlight the neuromuscular junction defect as the main feature of the patient's phenotype.

Expanding the TBL1XR1 Disease Spectrum: Generalized Dystonia Associated with a New Genetic Variant

Background: A growing number of identified genes increasingly reveal genetic overlaps between neurodevelopmental disorders and combined dystonia syndromes. Case report: We report a 61-year-old man with a neurodevelopmental disorder, mild ataxic signs and generalized dystonia who had been misdiagnosed with cerebral pals...

Pelizaeus-Merzbacher disease in a manifesting female carrier with a PLP1 frameshift variant: neuroimaging and neurophysiological findings

Pelizaeus-Merzbacher disease is an X-linked hypomyelinating leukodystrophy caused by pathogenic variants in the proteolipid protein 1 (PLP1) gene. Although typically affecting males, heterozygous females may occasionally develop neurological manifestations. We report a 25-year-old female with childhood-onset gait distu...

Clinical and Genetic Spectrum of ATP1A3-Related Disorders

The results highlight the need for a unified diagnostic framework for ATP1A3-related disorders and demonstrate the feasibility and scientific value of coordinated rare disease research in resource-limited settings.

Severe neurodevelopmental phenotype with multisystem involvement in VPS16-related mucopolysaccharidosis-like syndrome

Childhood-Onset Neurodegeneration and Brain Atrophy: Defining UBTF-Related Developmental Regression and Progressive Ataxia

UBTF-related CONDBA presents with early normal or mildly delayed development followed by regression and progressive ataxia, and elevated NFL may serve as a biomarker of neuronal injury in both humans and animal models.