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

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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. Ann Neurol 2005
Funding Information
  • Muscular Dystrophy Association
  • Nervous and Mental Disorders from Ministry of Health, Labor and Welfare (16B-1)
  • NIH (R01 NS27042)
  • National Institute for Child Health and Development (P01 HD38420)
  • New York State Office of Mental Retardation and Developmental Disabilities
  • Nemours Foundation
  • PMD Foundation
  • Kylan Hunter Foundation
  • NIH National Center for Research Resources (1P20RR020173)

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