Abstract
The combination of X-linked mental retardation (XLMR) and neurological disorders occurs in a number of syndromes. Differential diagnosis mostly depends on clinical data and mapping of responsible genes by linkage analysis. We present a Belgian family with severe XLMR and a progressive neurological disorder with ataxia, spasticity and convulsions. Biochemical investigations, neuroimaging and neuropathology were normal. Linkage analysis pointed to region Xq27-28 as the probable locus for the genetic defect. The sequence of the LICAM cDNA, a possible candidate gene, proved to be normal in the patients. This suggests the presence of a genetic factor on Xq27-28, different from L1CAM, which can lead to severe XLMR and a progressive neurological disorder.
Original language | English |
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Pages (from-to) | 155-161 |
Number of pages | 7 |
Journal | Clinical Genetics |
Volume | 52 |
Issue number | 3 |
Publication status | Published - Sep 1997 |
Keywords
- L1CAM
- Linkage analysis
- Spastic paraplegia
- X-linked mental retardation
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics