REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction
✍ Scribed by Cyril Goizet; Christel Depienne; Giovanni Benard; Amir Boukhris; Emeline Mundwiller; Guilhem Solé; Isabelle Coupry; Julie Pilliod; Marie-Laure Martin-Négrier; Estelle Fedirko; Sylvie Forlani; Cécile Cazeneuve; Didier Hannequin; Perrine Charles; Imed Feki; Jean-François Pinel; Anne-Marie Ouvrard-Hernandez; Stanislas Lyonnet; Elisabeth Ollagnon-Roman; Jacqueline Yaouanq; Annick Toutain; Christelle Dussert; Bertrand Fontaine; Eric Leguern; Didier Lacombe; Alexandra Durr; Rodrigue Rossignol; Alexis Brice; Giovanni Stevanin
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 589 KB
- Volume
- 32
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
Hereditary spastic paraplegias (HSP) constitute a heterogeneous group of neurodegenerative disorders characterized at least by slowly progressive spasticity of the lower limbs. Mutations in REEP1 were recently associated with a pure dominant HSP, SPG31. We sequenced all exons of REEP1 and searched for rearrangements by multiplex ligation-dependent probe amplification (MLPA) in a large panel of 175 unrelated HSP index patients from kindreds with dominant inheritance (AD-HSP), with either pure (n = 102) or complicated (n = 73) forms of the disease, after exclusion of other known HSP genes. We identified 12 different heterozygous mutations, including two exon deletions, associated with either a pure or a complex phenotype. The overall mutation rate in our clinically heterogeneous sample was 4.5% in French families with AD-HSP. The phenotype was restricted to pyramidal signs in the lower limbs in most patients but nine had a complex phenotype associating axonal peripheral neuropathy