Publications by authors named "A M Oller-Ramirez"
Introduction: CLN8 disease is one of the thirteen recognized genetic types of neuronal ceroid lipofuscinosis, a group of neurodegenerative lysosomal storage disorders, most frequent in childhood. A putative 286 amino acids transmembrane CLN8 protein with unknown function is affected. Pathological variants in the CLN8 gene were associated with two different phenotypes: variant late-infantile in individuals from many countries worldwide, and epilepsy progressive with mental retardation, appearing in Finnish and Turkish subjects.
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- Sandhoff disease is a rare neurodegenerative disorder caused by mutations in the HEXB gene, presenting in three forms: infantile, juvenile, and adult.
- In Córdoba, Argentina, a previously identified population showed a high incidence of the infantile form, but a recent case describes a 7-year-old boy diagnosed with the juvenile form, which is the first reported in Argentina.
- The child's symptoms included ataxia and speech issues starting at age 2, and genetic testing confirmed two known mutations in the HEXB gene associated with the disease.
Background: The Argentinean program was initiated more than a decade ago as the first experience of systematic translational research focused on NCL in Latin America. The aim was to overcome misdiagnoses and underdiagnoses in the region.
Subjects: 216 NCL suspected individuals from 8 different countries and their direct family members.
Tripeptidyl-peptidase 1 (TPP1) null or residual activity occurs in neuronal ceroid lipofuscinosis (NCL) with underlying TPP1/CLN2 mutations. A survey of 25 South American CLN2 affected individuals enabled the differentiation of two phenotypes: classical late-infantile and variant juvenile, each in approximately 50% of patients, with residual TPP1 activity occurring in approximately 32%. Each individual was assigned to one of three subgroups: (I) n=11, null TPP1 activity in leukocytes; (II) n=8, residual TPP1 activity of 0.
View Article and Find Full Text PDFSandhoff disease (SD) is a lysosomal disorder caused by mutations in the HEXB gene. To date, 43 mutations of HEXB have been described, including 3 large deletions. Here, we have characterized 14 unrelated SD patients and developed a Multiplex Ligation-dependent Probe Amplification (MLPA) assay to investigate the presence of large HEXB deletions.
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