ARSA and Parkinson disease: In particular, the MLD patient bears the compound heterozygous missense mutations, L300S (c.899T>C, rs199476389) and C174Y (c.521G>A, rs199476381) in the ARSA gene, while a heterozygous L300S mutation was found only in her family members with PD—her father and paternal uncle—but not in those without PD [31].