A recent functional study on central nervous system tissues and fibroblasts of a novel Allgrove syndrome patient (homozygous AAAS mutation c.464G>A; p.R155H) presenting with a motor neuron disease, cerebellar ataxia (accompanied by severe loss of motor neurons and Purkinje cells) and autonomic dysfunction revealed significant reduction in the perinuclear expression of p.R155H-mutant ALADIN in the patient's brain correlating with a significant reduction of the AAAS-1 transcript, while the AAAS-2 transcript was upregulated in fibroblasts [30]. Here, AAAS is linked to cerebellar ataxia.