General description

Mitochondrial Hsp60 chaperonopathy, also known as hypomyelinating leukodystrophy 4 (HLD4), is a congenital disorder caused by mutations in the HSPD1 gene, located at 2q33.1, which encodes the mitochondrial chaperonin Hsp60. It follows an autosomal recessive inheritance pattern and results in defective myelination of the central nervous system.

Clinical symptoms appear from birth to the first few months of life, including hypotonia, nystagmus, and delayed psychomotor development. As the disease progresses, infants exhibit significant spasticity, developmental delay, and regression. There is variability in clinical presentation among affected individuals, even within the same family.