Publications by authors named "H Zum Buttel"
Background: The term congenital ocular motor apraxia (COMA), coined by Cogan in 1952, designates the incapacity to initiate voluntary eye movements performing rapid gaze shift, so called saccades. While regarded as a nosological entity by some authors, there is growing evidence that COMA designates merely a neurological symptom with etiologic heterogeneity. In 2016, we reported an observational study in a cohort of 21 patients diagnosed as having COMA.
View Article and Find Full Text PDFStructural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice.
Ann Clin Transl Neurol
April 2019
Objective: FOXG1 syndrome is a rare neurodevelopmental disorder associated with heterozygous variants or chromosomal microaberrations in 14q12. The study aimed at assessing the scope of structural cerebral anomalies revealed by neuroimaging to delineate the genotype and neuroimaging phenotype associations.
Methods: We compiled 34 patients with a heterozygous (likely) pathogenic variant.
Article Synopsis
- The study investigated the clinical and genetic features of FOXG1 syndrome, focusing on 30 new patients and 53 previously reported ones with FOXG1 variants.
- Researchers found 54 different variants, with notable findings that truncating variants in specific domains led to more severe symptoms, while certain missense variants resulted in milder phenotypes.
- The results suggest a higher variability in symptoms than previously thought and can aid in genetic counseling and understanding new FOXG1 variants.
Background: The nosological assignment of congenital ocular motor apraxia type Cogan (COMA) is still controversial. While regarded as a distinct entity by some authorities including the Online Mendelian Inheritance in Man catalog of genetic disorders, others consider COMA merely a clinical symptom.
Methods: We performed a retrospective multicenter data collection study with re-evaluation of clinical and neuroimaging data of 21 previously unreported patients (8 female, 13 male, ages ranging from 2 to 24 years) diagnosed as having COMA.
Menkes disease (MD) is a rare X-linked recessive disorder caused by mutations in the ATP7A gene. This neurodegenerative disorder typically affects males and is characterized by impaired copper distribution and the malfunction of several copper-dependent enzymes. We report clinically discordant female monozygotic twins (MZT) with a heterozygous ATP7A mutation.
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