Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.

J. Neurol. Sci.2015 Dec 15;359(1-2):35-9. Epub 2015 Oct 17

Ewelina Elert-Dobkowska ¹ , Iwona Stepniak ¹ , Wioletta Krysa ¹ , Marta Rajkiewicz ¹ , Maria Rakowicz ² ,

Ewelina Elert-Dobkowska ¹ , Iwona Stepniak ¹ , Wioletta Krysa ¹ , Marta Rajkiewicz ¹ , Maria Rakowicz ² , Anna Sobanska ² , Monika Rudzinska ³ , Anna Wasielewska ⁴ , Jacek Pilch ⁵ , Jolanta Kubalska ¹ , Wanda Lipczynska-Lojkowska ⁶ , Jerzy Kulczycki ⁶ , Katarzyna Kurdziel ⁷ , Agata Sikorska ⁸ , Christian Beetz ⁹ , Jacek Zaremba ¹⁰ , Anna Sulek ¹¹

+ et al

Author information

¹ Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
² Department of Clinical Neurophysiology, Institute of Psychiatry and Neurology, Warsaw, Poland.
³ Department of Neurology, Medical University of Silesia, Katowice, Poland.
⁴ Department of Neurology, University Hospital, Krakow, Poland.
⁵ Department of Pediatric Neurology, Medical University of Silesia, Katowice, Poland.
⁶ First Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.
⁷ Department of Pediatric Neurology, St. Ludwig's Children Hospital, Krakow, Poland.
⁸ Department of Genetics and Animal Breeding, University of Life Sciences, Poznan, Poland.
⁹ Department of Clinical Chemistry and Laboratory Diagnostics, Jena University Hospital, Jena, Germany.
¹⁰ Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland; Division Five of Medical Sciences, Polish Academy of Science, Warsaw, Poland.
¹¹ Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland. Electronic address: suleka@ipin.edu.pl.

摘要

Hereditary spastic paraplegias (HSPs) consist of a heterogeneous group of genetically determined neurodegenerative disorders. Progressive lower extremity weakness and spasticity are the prominent features of HSPs resulting from retrograde axonal degeneration of the corticospinal tracts. Three genetic types, SPG3 (ATL1), SPG4 and SPG31 (REEP1), appear predominantly and may account for up to 50% of autosomal dominant hereditary spastic paraplegias (AD-HSPs). Here, we present the results of genetic testing of the three mentioned SPG genetic types in a group of 216 unrelated Polish patients affected with spastic paraplegia. Molecular evaluation was performed by multiplex ligation-dependent probe amplification (MLPA) and DNA sequencing. Nineteen novel mutations: 13 in 4 in ATL1 and 2 in REEP1, were identified among overall 50 different mutations detected in 57 families. Genetic analysis resulted in the identification of molecular defects in 54% of familial and 8.4% of isolated cases. Our research expanded the causative mutations spectrum of the three most common genetic forms of HSPs found in a large cohort of probands originating from the Central Europe.

KEYWORDS: ATL1, HSP, Hereditary spastic paraplegias, REEP1, SPAST, SPG

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