ERLIN1 and aceruloplasminemia: Truncating and missense mutations in ERLIN1 have been associated with a range of phenotypes, from autosomal recessive childhood-onset HSP with variable cerebellar ataxia and mild cognitive impairment (SPG62, MIM#615681 [https://www.omim.org/entry/615681])13 to amyotrophic lateral sclerosis14.