Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.

Research paper by Jennifer A JA Lee, Ricardo E RE Madrid, Karen K Sperle, Carolyn M CM Ritterson, Grace M GM Hobson, James J Garbern, James R JR Lupski, Ken K Inoue

Indexed on: 24 Dec '05Published on: 24 Dec '05Published in: Annals of Neurology


To report an association between spastic paraplegia type 2 with axonal peripheral neuropathy and apparent proteolipid protein gene (PLP1) silencing in a family.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.Electrodiagnostic studies and a sural nerve biopsy showed features of a dystrophic axonal neuropathy. Molecular studies identified a small duplication downstream of PLP1.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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