Genetic screening in large series of cases with neurodegenerative diseases further widened the clinical phenotype associated with PNPLA6 gene variants, identifying patients with trichomegaly, chorioretinal atrophy, and multiple pituitary hormone deficiencies, including growth hormone (G-H), gonadotrophins, and thyroid-stimulating hormone (TSH). This evidence concerns the gene PNPLA6 and neurodegenerative disease.