UCHL1 and aceruloplasminemia: Homozygous or compound heterozygous mutations in the neuronal gene Ubiquitin C-terminal Hydrolase L1 (SPG79/UCHL1) at 4p13 contribute to neurodegenerative phenotypes [62], with clinical manifestations including cognitive deterioration with neuropathy in the peripheral region and cerebellar ataxia [63].