Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients
| Autor: | Monika Rudzińska, Christian Beetz, Marta Rajkiewicz, Iwona Stepniak, Katarzyna Kurdziel, Maria Rakowicz, Ewelina Elert-Dobkowska, Wioletta Krysa, Anna Sobanska, Jerzy Kulczycki, Anna Sulek, Wanda Lipczynska-Lojkowska, Anna Wasielewska, Jolanta Kubalska, Jacek Zaremba, Agata Sikorska, Jacek Pilch |
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| Rok vydání: | 2015 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Spastin Hereditary spastic paraplegia DNA Mutational Analysis Gene mutation Biology medicine.disease_cause Genetic analysis Young Adult GTP-Binding Proteins medicine Spastic Humans Genetic Predisposition to Disease Multiplex ligation-dependent probe amplification Spasticity Genetic Association Studies Genetic testing Genetics Adenosine Triphosphatases Family Health Mutation medicine.diagnostic_test Spastic Paraplegia Hereditary Membrane Proteins Membrane Transport Proteins medicine.disease Neurology Female Neurology (clinical) Poland medicine.symptom |
| Zdroj: | Journal of the neurological sciences. 359(1-2) |
| ISSN: | 1878-5883 |
| Popis: | 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 (SPAST) 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 SPAST, 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. |
| Databáze: | OpenAIRE |
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