We report on a C-to-T transition in exon 6 of the PLP gene in a male with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia. The transition changes a glutamine at amino acid residue 233 to a termination codon. This premature stop codon probably results in a truncated protein that is not funct
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia
โ Scribed by Ute Hehr; Peter Bauer; Beate Winner; Rebecca Schule; Akguen Olmez; Wolfgang Koehler; Goekhan Uyanik; Anna Engel; Daniela Lenz; Andrea Seibel; Andreas Hehr; Sonja Ploetz; Josep Gamez; Arndt Rolfs; Joachim Weis; Thomas M. Ringer; Michael Bonin; Gerhard Schuierer; Joerg Marienhagen; Ulrich Bogdahn; Bernhard H. F. Weber; Haluk Topaloglu; Ludger Schols; Olaf Riess; Juergen Winkler
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 967 KB
- Volume
- 62
- Category
- Article
- ISSN
- 0364-5134
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Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterised by progressive spasticity and hyperreflexia of the lower limbs. Autosomal dominant hereditary spastic paraplegia linked to the SPG3A locus on chromosome 14q11-2