<unk>  is associated with mutations in the ATP13A2 gene. The inheritance pattern for KRS is autosomal recessive. If a male and female carrier, who has one recessive allele for the ATP13A2 gene mutation and one dominant allele for the ATP13A2 gene, have a child, there is a 25% chance the child has KRS, a 50% chance the child is a carrier for KRS, and a 25% chance the child does not have KRS. The ATP13A2 gene is located on chromosome 1 (1p36.13). The ATP13A2 gene represents position 36 on the p arm, which is the short arm, and the sub-band 13, which is identified with the decimal point. The ATP13A2 gene mutations associated with KRS are truncated forms and cause protein instability with loss-of-function. The truncated mutation causes mislocalization of ATP13A2 to the endoplasmic reticulum where the proteasome degrades it through the ER-associated degradation (ERAD) pathway. Heterozygous and homozygous missense mutations in ATP13A2 are linked to early-onset parkinsonism. Compound heterozygous and homozygous mutations in KRS subjects in families from China, Jordan, Pakistan Chile, and Afghanistan, which cause splicing variants or frameshift mutations that truncate ATP13A2. Mutations in the ATP13A2 gene have also been associated with hereditary spastic paraplegia, uncomplicated early - or late-onset parkinsonism and neuronal ceroid lipofuscinosis.
Kufor–Rakeb syndrome
Kufs disease
Zunich–Kaye syndrome
Irlen syndrome
Simpson–Golabi–Behmel syndrome
Naxos syndrome
Cornelia de Lange syndrome
Letterer–Siwe disease