Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0017168 (
gastroesophageal reflux disease
)
11,783
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We have recently mapped a new rare form of
spastic paraplegia
complicated by bilateral cataracts,
gastroesophageal reflux
with persistent vomiting, and amyotrophy to chromosome 10q23.3-q24.2. This locus, named SPG9, is located in an interval spanning about 12 cM of genomic DNA, between markers D10S536 and D10S603, where different neurological disorders have been mapped. In particular, a gene for partial epilepsy has been assigned to a 3 cM interval between markers D10S185 and D10S577, which is completely included in the SPG9 critical region. A few families affected with
spastic paraplegia
and epilepsy have been reported; in the present study, we tested a pedigree with concurrence of
spastic paraplegia
, epilepsy, and mental retardation inherited as an autosomal dominant trait, using markers located in the SPG9 interval. Haplotype reconstruction excluded the linkage to 10q23.3-q24.2. In addition, the seven different loci so far reported to be associated with autosomal dominant pure forms of
spastic paraplegia
have been tested and excluded by linkage analysis and haplotype reconstruction, including SPG4 on chromosome 2p22-p21, where a familial form of
spastic paraplegia
associated with dementia and epilepsy has been mapped. These data confirm genetic heterogeneity in familial
spastic paraplegia
with epilepsy and suggest a specific locus for the family here analyzed.
...
PMID:Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy. 1256 7
