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Summary
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE SPG5A
270800
OMIM = Online Medalian Inheritance of Men
100986
8q12.3
very rare
autosomal recessive
mutation in the CYP7B1 gene
symptoms
cataract
cognitive impairment
defect of walking, running, rising or climbing
dysarthria
gait disturbance
hyperreflexia
nystagmus
onset, adolescent
onset, childhood
optic atrophy
spastic paraplegia
white matter changes, abnormalities
laboratory finding
27-Hydroxycholesterol +€mol/mlplasma
27-Hydroxycholesterol +€mol/lcerebrospinal fluid
Literature
Mudd SHHypermethioninemias of genetic and non-genetic origin: A reviewAm J Med Genet C Semin Med Genet15713-322011
Mudd SHHypermethioninemias of genetic and non-genetic origin: A reviewAm J Med Genet C Semin Med Genet15713-322011