Clinical characteristics of a genetic variant in a patient with Pelizaeus-Merzbacher disease
Author Information
Author(s): Manzke Pedro, Brandão Pedro Renato P., Balieiro Talita, de Carvalho Bispo Diógenes Diego, Osório Maria Joana, Barra Gustavo Barcelos
Primary Institution: Instituto Hospital de Base (IHB), Brasília, DF Brazil
Hypothesis
What are the clinical characteristics associated with the Ala21Val variant in the PLP1 gene in a patient with Pelizaeus-Merzbacher disease?
Conclusion
The patient's clinical and MRI findings confirmed a diagnosis of classic Pelizaeus-Merzbacher disease caused by the PLP1 variant.
Supporting Evidence
- The patient exhibited developmental delays, nystagmus, and spastic paraparesis.
- MRI revealed hypomyelination and atrophy of the corpus callosum and cerebellum.
- The PLP1 variant was inherited from the patient's mother.
Takeaway
This study is about a 29-year-old man with a genetic condition that affects his movement and coordination due to a change in a specific gene.
Methodology
The patient's DNA was sequenced to identify variants in genes associated with inherited diseases.
Limitations
The study is based on a single case, which may limit the generalizability of the findings.
Participant Demographics
A 29-year-old male Brazilian patient.
Digital Object Identifier (DOI)
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