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

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

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...

Previously unreported pathogenic variant in FOXC1 causing Axenfeld-Rieger syndrome with significant ocular anterior segment dysgenesis.

Axenfeld-Rieger syndrome (ARS) is a rare genetic disorder characterised by a broad phenotypic spectrum and variable expressivity with characteristic ocular anterior segment dysgenesis, glaucoma and systemic manifestations. ARS is primarily associated with pathogenic variants in FOXC1 and PITX2, which both exhibit autos...

Late-diagnosed congenital myasthenic syndrome due to a CHRNE mutation: a case report

Congenital myasthenic syndromes (CMS) comprise a heterogeneous group of inherited disorders caused by genetic defects affecting neuromuscular junction transmission. Clinical manifestations range from isolated ocular symptoms to severe neonatal respiratory insufficiency. Despite symptom onset early in life, CMS is frequ...

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...

Axonal polyneuropathy: compound heterozygous mutations in NDUFS1—a case report

Children presenting with progressive gait abnormality may suffer from a genetic disorder. NDUFS1-related mitochondrial complex I deficiency is a rare disorder with highly variable phenotypes. Predominant axonal neuropathy without prominent systemic metabolic dysfunction is unusual. Expanding reports of such prese...