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  • Title: Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.
    Author: Lee JA, Madrid RE, Sperle K, Ritterson CM, Hobson GM, Garbern J, Lupski JR, Inoue K.
    Journal: Ann Neurol; 2006 Feb; 59(2):398-403. PubMed ID: 16374829.
    Abstract:
    OBJECTIVE: To report an association between spastic paraplegia type 2 with axonal peripheral neuropathy and apparent proteolipid protein gene (PLP1) silencing in a family. METHODS: Pulsed-field gel electrophoresis, custom array comparative genomic hybridization, and semi-quantitative multiplex polymerase chain reaction analyses were used to examine the PLP1 genomic region. RESULTS: Electrodiagnostic studies and a sural nerve biopsy showed features of a dystrophic axonal neuropathy. Molecular studies identified a small duplication downstream of PLP1. INTERPRETATION: We propose the duplication to result in PLP1 gene silencing by virtue of a position effect. Our observations suggest that genomic rearrangements that do not include PLP1 coding sequences should be considered as yet another potential mutational mechanism underlying PLP1-related dysmyelinating disorders.
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