Publications by authors named "Pedro Lucas G S B Lima"
Article Synopsis
- A recent study analyzed 38 patients with cerebrotendineous xanthomatosis (CTX) across six genetics centers in Brazil, marking the largest CTX case series in South America.
- The study identified 13 variants in the CYP27A1 gene, including three not previously reported, and highlighted cataracts as the most common initial symptom of CTX in the Brazilian cohort.
- The research also found a correlation between the age of onset of neurological symptoms and the age when patients lose the ability to walk, with a median gap of about 10 years.
Background: Progressive Myoclonic Epilepsy (PME) is a group of rare diseases that are difficult to differentiate from one another based on phenotypical characteristics.
Case Report: We report a case of PME type 7 due to a pathogenic variant in KCNC1 with myoclonus improvement after epileptic seizures.
Discussion: Myoclonus improvement after seizures may be a clue to the diagnosis of Progressive Myoclonic Epilepsy type 7.
Mutations in are a rare cause of autosomal recessive leucoencephalopathy with ataxia and specific imaging abnormalities. Very few cases have been reported to date. Here, we describe the clinical and imaging phenotype of 12 additional patients and expand the known phenotypic spectrum of this disorder.
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