title: Clinical and morphological phenotype of HMSN 1A mosaicism.
abstract: Clinical, neurophysiological and morphological studies on a patient with mosaicism of the 17p11.2 duplication were performed in detail for the first time. Since duplication occurs during paternal meiosis, a somatic reversion is suggested, leading to mosaicism. The proportion of nuclei with duplication varied markedly between 49% in blood cells and 74% in tissue from the sural nerve. Clinically, mild symptoms of a motor and sensory neuropathy were present. However, neurophysiological changes and findings in the sural nerve biopsy were consistent with a typical hereditary motor and sensory neuropathy type 1 (HMSN 1). Differing clinical findings in patients with mosaicism of the 17p11.2 duplication may be explained by a varying degree and/or time of reversion.
authors.affiliation: Department of Neurology, University Hospital, Erlangen, Germany.
authors.forename: H
authors.initials: H
authors.lastname: Grehl
authors.forename: B
authors.initials: B
authors.lastname: Rautenstrauss
authors.forename: T
authors.initials: T
authors.lastname: Liehr
authors.forename: A
authors.initials: A
authors.lastname: Bickel
authors.forename: A
authors.initials: A
authors.lastname: Ekici
authors.forename: K
authors.initials: K
authors.lastname: Bathke
authors.forename: B
authors.initials: B
authors.lastname: Neundörfer
mesh_terms: D000328:Adult; D001706:Biopsy; D001773:Blood Cells / Q000648:ultrastructure; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D005260:Female; D006801:Humans; D009030:Mosaicism; D005810:Multigene Family; D010641:Phenotype; D013497:Sural Nerve / Q000473:pathology