Premium
Pelizaeus‐Merzbacher disease presenting as spinal muscular atrophy: Clinical and molecular studies
Author(s) -
Kaye Edward M.,
Doll Rhonda F.,
Natowicz Marvin R.,
Smith Frances I.
Publication year - 1994
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.410360618
Subject(s) - spinal muscular atrophy , leukodystrophy , hyporeflexia , hypotonia , medicine , myelin , congenital muscular dystrophy , proteolipid protein 1 , pathology , muscular dystrophy , disease , central nervous system , myelin basic protein , anatomy , weakness
Two brothers with profound neonatal hypotonia and hyporeflexia and electrodiagnostic testing consistent with lower motor neuron pathology were found to have a leukodystrophy. Using single‐strand conformational polymorphism analysis and direct sequencing, a mutation within exon 3 of the gene encoding proteolipid protein (Gly 73 Arg substitution) was previously detected in both brothers and their mother, establishing the diagnosis of Pelizaeus‐Merzbacher disease. Despite reported sparing of the peripheral nervous system in Pelizaeus‐Merzbacher disease, we suggest that proteolipid protein gene products may influence the development of anterior horn cells or peripheral nervous system myelin and that some individuals affected with this disease may present with clinical and electromyographic features suggestive of neonatal spinal muscular atrophy.