leukodystrophy hypomyelinating type-4; mitochondrial HSP60 chaperonopathy; mitCHAP-60 disease

Pathology

hypomyelinating leukodystrophy

Genetics

• autosomal recessive
• associated with defects in HSPD1 are the cause of leukodystrophy hypomyelinating type 4

Clinical manifestations

• infantile-onset rotary nystagmus
• progressive spastic paraplegia
• neurologic regression
• motor impairment
• profound mental retardation
• death usually occurrs within the first 2 decades of life

More general terms

• leukodystrophy
• genetic disease of the central nervous system

Database

• OMIM: https://mirror.omim.org/entry/612233