Summary
In their 1990 article “The inherited syndrome of microcephaly, dyskinesia and pontocerebellar hypoplasia: a systemic atrophy with early onset”, Barth et al. reported on a neurodegenerative disorder observed in seven children from five related families.
Results
The children suffered from spastic pareses and severe extrapyramidal dyskinesia (movement disorder) and did not achieve any voluntary abilities. They also presented with microcephaly (reduced head circumference).
CT scans showed hypoplasia of the pons and cerebellum (pontocerebellar hypoplasia), along with progressive atrophy of the cerebrum. The authors additionally described findings from the brain of a deceased patient and from a brain biopsy in another affected child.
In this early description, Barth et al. assumed that the disorder represented a “new” hereditary disease leading to early (possibly even prenatal) neuronal loss.
Conclusion
The article is one of the first descriptions of PCH2. At the time, however, it was not yet referred to as PCH2, and the mode of inheritance had not been confirmed.
Barth et al. compiled the symptoms and imaging findings of the affected children. They proposed a progressive course of disease, based on CT and autopsy findings, although this progression was not reflected in worsening of clinical symptoms.
Because of the clustering of cases in consanguineous families, they hypothesized an autosomal recessive mode of inheritance.
While these initial observations could not provide definitive conclusions, they paved the way for later, more systematic studies that ultimately led to the classification and naming of the condition as PCH2, confirmation of the inheritance pattern, and discovery of the causative mutation.
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