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Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families

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Loureiro JL, Miller-Fleming L, Thieleke-Matos C, Magalhães P, Cruz VT, Coutinho P, Sequeiros J, Silveira I. Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families.

Acta Neurol Scand 2009: 119: 113–118.

© 2008 The Authors Journal compilation © 2008 Blackwell Munksgaard. Objectives – 

The hereditary spastic paraplegias (HSP) are a genetically and clinically heterogeneous group of neurodegenerative disorders, mainly characterized by a progressive spasticity and weakness of the lower limbs. Mutations in the SPG4 and SPG3A genes are responsible for approximately 50% of autosomal dominant HSP. To genetically diagnose the Portuguese families with HSP, mutation analysis was performed for the SPG4 and SPG3A genes. Patients and methods – 

Analysis was performed by polymerase chain reaction, followed by denaturing high performance liquid chromatography (DHPLC), in 61 autosomal dominant (AD)-HSP families and 19 unrelated patients without family history. Results – 

Ten novel mutations were identified: one in the SPG3A and nine in the SPG4 genes; three known mutations in the SPG4 were also found. Most of the novel mutations were frameshift or nonsense (80%), resulting in a dysfunctional protein. Conclusions – 

The SPG4 and SPG3A analysis allowed the identification of 10 novel mutations and the genetic diagnosis of approximately a quarter of our AD-HSP families.
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Keywords: HSP; SPAST; atlastin-1; neurodegeneration; spastin

Document Type: Research Article

Affiliations: 1: UnIGENe, IBMC – Instituto de Biologia Molecular e Celular, Universidade do Porto, Portugal 2: Serviço de Neurologia, Hospital de São Sebastião, Feira, Portugal 3: ICBAS, Universidade do Porto, Portugal

Publication date: 01 February 2009

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