Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2013 Feb;34(2):239-42.
doi: 10.1007/s10072-011-0899-3. Epub 2011 Dec 28.

Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals

Anna Sulek  1 , Ewelina Elert, Marta Rajkiewicz, Elzbieta Zdzienicka, Iwona Stepniak, Wioletta Krysa, Jacek Zaremba
Affiliations

Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals

Anna Sulek et al. Neurol Sci. 2013 Feb.

Abstract

Hereditary spastic paraplaegias are a group of clinically and genetically heterogeneous neurodegenerative disorders characterised by progressive spasticity and weakness in the lower limbs. The most common forms of hereditary spastic paraplaegia are SPG4 and SPG3A caused by sequence variants in the SPAST and ATL1 genes, as well as by deletions and duplications not detected by standard techniques. In this study, we used the multiplex ligation-dependent probe amplification (MLPA) analysis for screening 93 patients (52 familial and 41 isolated cases). As a result, we identified 11 different deletions and 1 duplication in the SPAST gene and a single exon deletion in the ATL1 gene. These results indicate that micro-rearrangements in the SPAST gene are a fairly frequent cause of hereditary spastic paraplaegia and that MLPA is a useful and efficient technique to detect a considerable proportion of the mutations in the most common forms of hereditary spastic paraplaegias.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Semin Neurol. 1993 Dec;13(4):333-6 - PubMed
    1. J Med Genet. 2007 Apr;44(4):281-4 - PubMed
    1. Neurology. 2006 Jul 11;67(1):45-51 - PubMed
    1. Neurogenetics. 2007 Nov;8(4):317-8 - PubMed
    1. Eur J Hum Genet. 2009 Feb;17(2):187-94 - PubMed

Publication types

LinkOut - more resources