Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Schule, R; Brandt, E; Karle, KN; Tsaousidou, M; Klebe, S; Klimpe, S; Auer-Grumbach, M; Crosby, AH; Hubner, CA; Schols, L; Deufel, T; Beetz, C.
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.
Neurogenetics. 2009; 10(2):97-104
Doi: 10.1007/s10048-008-0158-9
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- Auer-Grumbach Michaela
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- Abstract:
- Hereditary spastic paraplegia (HSP) is a neurodegenerative condition defined clinically by lower limb spasticity and weakness. Homozygous mutations in CYP7B1 have been identified in several consanguineous families that represented HSP type 5 (SPG5), one of the many genetic forms of the disease. We used direct sequencing and multiplex ligation-dependent probe amplification to screen for CYP7B1 alterations in apparently sporadic HSP patients (n = 12) as well as index patients from non-consanguineous families with recessive (n = 8) and dominant (n = 8) transmission of HSP. One sporadic patient showing HSP as well as optic atrophy carried a homozygous nonsense mutation. Compound heterozygosity was observed in a recessive family with a clinically pure phenotype. A heterozygous missense change segregated in a small dominant family. We also found a significant association of a known coding polymorphism with cerebellar signs complicating a primary HSP phenotype. Our findings suggest CYP7B1 alterations to represent a rather frequent cause of HSP that should be considered in patients with various clinical presentations.
- Find related publications in this database (using NLM MeSH Indexing)
- Adolescent -
- Adult -
- Age of Onset -
- Child -
- Child, Preschool -
- Chromosomes, Human, Pair 8 -
- DNA Mutational Analysis -
- Haplotypes -
- Humans -
- Infant -
- Middle Aged -
- Polymorphism, Genetic -
- Spastic Paraplegia, Hereditary - genetics
- Steroid Hydroxylases - genetics
- Young Adult -
- Find related publications in this database (Keywords)
- CYP7B1
- Hereditary spastic paraplegia
- Polymorphism
- SPG5