Olmez, A. and Uyanik, G. and Ozgul, R. K. and Gross, C. and Cirak, S. and Elibol, B. and Anlar, B. and Winner, B. and Hehr, U. and Topaloglu, H. and Winkler, Juergen (2006) Further clinical and genetic characterization of SPG11: Hereditary spastic paraplegia with thin corpus callosum. NEUROPEDIATRICS, 37 (2). pp. 59-66. ISSN 0174-304X,
Full text not available from this repository. (Request a copy)Abstract
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders leading to progressive spasticity of the lower limbs. Clinically, HSPs are divided into "pure" and "complicated" forms. In pure HSP, the spasticity of the lower limbs is the sole symptom, whereas in complicated forms additional neurological and non-neuro logical features are observed. Genetically, HSPs are divided into autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) forms. Up to date, 30 different HSPs are linked to different chromosomal loci and 11 genes could be defined for AR-HSP, AD-HSP and XL-HSP. SPG11, an AR-HSP (synonym: HSP11), is a complicated HSP associated with a slowly progressive spastic paraparesis, mental impairment and the development of a thin corpus callosum (TCC) during the course of the disease. SPG11 has been previously linked to chromosomal region 15q13-15. First, we applied rigid diagnostic criteria to systematically examine 20 Turkish families with autosomal recessive HSP for characteristic features of SPG11. We detected four large Turkish families with AR-HSP and TCC consistent with SPG11. Subsequent genetic linkage analysis of those 4 families refines the SPG11 locus further down to a small region of 2.93 cM with a maximum lod score of 11.84 at marker D15S659 and will guide further candidate gene analysis.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | MENTAL IMPAIRMENT; LINKAGE ANALYSIS; PROGRESSION; 15Q13-15; PROGRAM; HSP; hereditary spastic paraplegia; corpus callosurn; SPG11 |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik Medicine > Lehrstuhl für Neurologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 17 Feb 2021 09:49 |
| Last Modified: | 17 Feb 2021 09:49 |
| URI: | https://pred.uni-regensburg.de/id/eprint/34756 |
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