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Jensen syndrome; opticoacoustic nerve atrophy with dementia
Genetics:
1) mutation in the gene for TIM8A
- same gene implicted in dsytonia deafness syndrome
2) X-linked inheritance
Pathology:
1) optic nerve atrophy
2) cochlear nerve atrophy
3) dementia
Clinical manifestations:
1) sensorineural hearing loss onset in infancy (deafness)
2) visual loss in adolescence (blindness)
3) dementia in adulthood
4) muscle weakness
Related
dsytonia deafness syndrome; Mohr-Traneberg syndrome; deafness-dystonia-optic atrophy syndrome; X-linked progressive deafness type 1
mitochondrial import inner membrane translocase subunit TIM8A; deafness dystonia protein 1; X-linked deafness dystonia protein (TIMM8A, DDP, DDP1, TIM8A)
General
developmental disorder
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 311150
References
OMIM :accession 311150