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Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation
Author(s) -
Warshawsky Ilka,
Rudick Richard A.,
Staugaitis Susan M.,
Natowicz Marvin R.
Publication year - 2005
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20601
Subject(s) - multiple sclerosis , proteolipid protein 1 , asymptomatic , mutation , exome sequencing , age of onset , differential diagnosis , medicine , white matter , pediatrics , disease , genetics , gene , biology , pathology , myelin , immunology , central nervous system , magnetic resonance imaging , myelin basic protein , radiology
We report a 49‐year‐old woman with a history of progressive gait disturbance, white matter disease, and cerebrospinal fluid immunoglobulin abnormalities who met criteria for primary progressive multiple sclerosis and whose son died at age 10 years of an unknown congenital neurodevelopmental disorder. Sequencing of the proteolipid protein 1 gene showed a novel mutation, Leu30Arg (c.89T〉G), in the mother and son. Pelizaeus–Merzbacher disease is the cause of death in the son and explains the mother's adult‐onset neurological disorder. This case goes against dogma that mothers of severely affected sons are asymptomatic as adults and expands the differential diagnosis of primary progressive multiple sclerosis to include proteolipid protein 1 gene mutations. Ann Neurol 2005;58:470–473