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spastic paraplegia type 2 (X-linked)
See hereditary spastic paraplegia
Genetics:
1) X-linked
2) associated with mutations in PLP1 gene
Clinical manifestations:
- spastic gait
- hyperreflexia
- in some patients, complicating features include:
a) nystagmus
b) dysarthria
c) sensory disturbance
d) mental retardation
e) optic atrophy
Laboratory:
- PLP1 gene mutation
Database Correlations
OMIM 312920
References
OMIM :accession 312920