De novo mutation (Arg98--Cys) of the myelin P0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot-Marie-Tooth disease type 1B

Cys) of exon 3 coding for the extracellular domain of the myelin protein zero (P0) gene was found in a sporadic case of an eighteen year old Japanese man with a severe variant of Charcot-Marie-Tooth disease type 1B (CMT1B). A de novo mutation was established by parentage testing and analyses of the P0 gene in the family. This patient showed delayed motor development, nonprogressive limb weakness and kyphoscoliosis. In addition to the nerve biopsy findings typical of CMT1B, such as segmental demyelination, marked decrease in the density of myelinated fibers, and frequent onion-bulb formation, ultrastructural examination disclosed uncompaction of the major dense lines with slight widening of the intraperiod distance in the inner layers of the myelin sheath. Although mutations in the extracellular domain of P0 should affect homophilic adhesion between external surfaces of Schwann cell processes, resulting in the separation at the intraperiod lines, our study shows uncompacted major dense lines as a main myelin abnormality where the cytoplasmic domain of P0 resides. -->

ISSN:	0022-510X
Přístupová URL adresa:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e97491efc8ac2b2233946cb91529eda https://pubmed.ncbi.nlm.nih.gov/9168174
Rights:	CLOSED
Přírůstkové číslo:	edsair.doi.dedup.....9e97491efc8ac2b2233946cb91529eda
Autor:	Shunji Yamamori, Osamu Hasegawa, Akio Ohnishi, Katsuhiko Izawa, Atsushi Komiyama, Hirofumi Ohashi
Rok vydání:	1997
Předmět:	Male Adolescent Schwann cell Biology Arginine Nerve Fibers Myelinated Polymerase Chain Reaction Exon Myelin Japan Sural Nerve Charcot-Marie-Tooth Disease medicine Extracellular Humans Point Mutation Amino Acid Sequence Nerve biopsy medicine.diagnostic_test Base Sequence Myelin protein zero Point mutation Anatomy Exons Molecular biology Charcot-Marie-Tooth Disease Type 1B medicine.anatomical_structure Neurology Cystine Neurology (clinical) Myelin P0 Protein
Zdroj:	Journal of the neurological sciences. 149(1)
ISSN:	0022-510X
Popis:	A point mutation (Arg98-->Cys) of exon 3 coding for the extracellular domain of the myelin protein zero (P0) gene was found in a sporadic case of an eighteen year old Japanese man with a severe variant of Charcot-Marie-Tooth disease type 1B (CMT1B). A de novo mutation was established by parentage testing and analyses of the P0 gene in the family. This patient showed delayed motor development, nonprogressive limb weakness and kyphoscoliosis. In addition to the nerve biopsy findings typical of CMT1B, such as segmental demyelination, marked decrease in the density of myelinated fibers, and frequent onion-bulb formation, ultrastructural examination disclosed uncompaction of the major dense lines with slight widening of the intraperiod distance in the inner layers of the myelin sheath. Although mutations in the extracellular domain of P0 should affect homophilic adhesion between external surfaces of Schwann cell processes, resulting in the separation at the intraperiod lines, our study shows uncompacted major dense lines as a main myelin abnormality where the cytoplasmic domain of P0 resides.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e97491efc8ac2b2233946cb91529eda https://pubmed.ncbi.nlm.nih.gov/9168174 Zobrazit plný text záznamu Full Text from ScienceDirect