Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease
✍ Scribed by Christian A. Hübner; Ulrike Orth; Arne Senning; Cordula Steglich; Alfried Kohlschütter; Rudolf Korinthenberg; Andreas Gal
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 88 KB
- Volume
- 25
- Category
- Article
- ISSN
- 1059-7794
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## Abstract The __rumpshaker__ mutation of the X‐linked myelin proteolipid protein (__PLP1__) gene causes spastic paraplegia type 2 or a mild form of Pelizaeus‐Merzbacher disease in man. The identical mutation occurs spontaneously in mice. Both human and murine diseases are associated with dysmyeli
The majority of motor parasomnias and almost all nocturnal seizures occur out of NREM sleep. 1,2 The only well-defined disorders that are exclusively REM related are REM sleep behavior disorder (RBD) 3 and painful nocturnal erections. Catathrenia is a disorder that arises mostly but not exclusively
We report a G→A transition at nucleotide 431 of the proteolipid protein gene (PLP) results in a nonsense codon in a family with an unusual form of Pelizaeus-Merzbacher disease (PMD). The mutation, which creates a second AluI restriction site, results in a nonsense mutation in PLP. The clinical pictu