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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
General
leukodystrophy
genetic disease of the central nervous system
Database Correlations
OMIM 612233
References
OMIM :accession 612233