Publications by authors named "Natalie Keller"
Article Synopsis
- Hereditary lower motor neuron diseases (LMND) can be categorized based on which muscle groups they affect, and there are significant overlaps with Charcot-Marie-Tooth disease.
- A study conducted exome sequencing on 41 families to improve molecular diagnosis, finding a 41% diagnostic yield, particularly in cases that had previously tested negative for neuromuscular diseases.
- The results suggest that early exome sequencing is beneficial for diagnosing hereditary LMNDs, especially those with unique or overlapping symptoms, and emphasize the importance of checking for mitochondrial disorders in cases with lower motor neuron issues.
DNM1L encodes dynamin-related protein 1 (DRP1), a multi-domain GTPase essential for mitochondrial and peroxisomal division. Autosomal dominant and recessive variants in DNM1L cause encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1), which presents as a complex and clinically heterogeneous neurological disorder of variable severity, often accompanied by seizures. Clinical features are diverse, and no clear phenotype-genotype correlations were drawn to date.
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- PDXK is a gene responsible for producing a kinase that activates vitamin B6, crucial for various bodily functions, and mutations in this gene can lead to a specific type of nerve disease.
- Researchers identified a new harmful variant in the PDXK gene in two siblings, which resulted in an early-onset form of this nerve disease that responds to vitamin B6 treatment.
- Through advanced analysis techniques, the study found that this variant severely impaired the enzyme's function, leading to low vitamin levels, and emphasizes the importance of genetic screening for similar cases to enable effective treatment.