Affiliations: Department of Pediatric Neurology, University Hospital
of Leicester, NHS Trust, Leicester Royal Infirmary, Leicester, UK
Note: [] Correspondence: Dr. Sushil Beri, MD, Department of Pediatric
Neurology, University Hospital of Leicester, NHS Trust, Leicester Royal
Infirmary, Leicester, UK. Tel.: +44 116 2870912; +44 779 1236736; Fax: +44 116
2587637; E-mail: [email protected]
Abstract: Proteolipid protein 1 (PLP1) related disorders of central nervous
system myelin formation; span a continuum to include a range of phenotypes from
Pelizaeus-Merzbacher disease to X linked spastic paraplegia 2. Spastic
paraplegia 2 is allelic to Pelizaeus-Merzbacher disease and typically caused by
missense mutations in the second extracellular domain of PLP1. We report a
family with two brothers, age 4 and 2 years respectively with developmental
delay, speech problems and spastic quadriplegia. Their mother had mild symptoms
since the age of 3 years with a diagnosis of 'spastic diplegia'. Molecular
genetics confirmed that the family had a premature stop codon at tyrosine 104
(p Tyr104X) a novel mutation in exon 3 of PLP1 gene. This mutation resulted in
a truncated PLP1 protein. To the best of our knowledge, this is a novel
mutation and has not been described before.
Keywords: PLP1 related disorders, X linked spastic paraparesis, Pelizaeus-Merzbacher disease
