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
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Progressive Cerebello-Cerebral AtrophySEPSECS6, 8 [11] (p.A239T, p.Y334C)ARWorldwide< 1 in 500>95%0.000100190361687206
Progressive Cerebello-Cerebral AtrophySEPSECS6, 8 [11] (p.A239T, p.Y334C)ARSephadic Jewish – Moroccan and Iraqi 1 in 41>95%0.00124843945068664