This molecular finding might not only provide first insights into the biochemical origin of the broad neurological involvement of Allgrove syndrome but also confirms the suitability of fibroblasts to identify pathophysiological processes of neuronal relevance: Ataxin-2, a polyglutamine protein causative for spinocerebellar ataxia type 2 upon repeat expansion > 34, was shown to function as modifier of Amyotrophic Lateral Sclerosis (ALS) pathology (as a rapidly progressing neurodegenerative disease) with considerable negative impact of Ataxin-2 expression on pathophysiology [31, 32]. Here, ATXN2 is linked to Triple A syndrome.