Progressive Cerebello-Cerebral Atrophy (SEPSECS)
Progressive cerebello-cerebral atrophy is an autosomal recessive disorder caused by pathogenic variants in the gene SEPSECS. While patients from different ethnicities have been reported, there is an increased prevalence in Sephardic Jewish individuals from Morocco and Iraq due to the presence of a founder mutation. Onset of the disease is in early infancy. Patients develop progressive atrophy of the cerebellum and cerebrum, which results in microcephaly, severe developmental delay and intellectual disability. Patients exhibit seizures and spasticity and do not develop motor skills. Life expectancy is shortened, and death may occur in childhood or adolescence in some patients. No genotype-phenotype correlation has been reported.
|Disease Name||Gene||Guaranteed Exons||Inheritance||Ethnicity||Carrier Frequency||Detection Rate||Residual Risk|
|Progressive Cerebello-Cerebral Atrophy||SEPSECS||6, 8  (p.A239T, p.Y334C)||AR||Worldwide||< 1 in 500||>95%||0.000100190361687206|
|Progressive Cerebello-Cerebral Atrophy||SEPSECS||6, 8  (p.A239T, p.Y334C)||AR||Sephadic Jewish – Moroccan and Iraqi||1 in 41||>95%||0.00124843945068664|