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Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family

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5 Charcot Marie Tooth disease a novel Tyr145Ser mutation in the myelin protein zero MPZ, PO gene causes different phenotypes.pdf (2.530Mb)
Date
2003-07-05
Author
Leal Esquivel, Alejandro
Berghoff, Corinna
Berghoff, Martin
del Valle Carazo, Gerardo
Contreras, Carlos
Montoya, Olga
Hernández, Erick
Barrantes Mesén, Ramiro
Schlötzer Schrehardt, Ursula
Neundörfer, Bernhard
Reis, André
Rautenstrauss, Bernd
Heuss, Dieter
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Abstract
Abstract. Charcot-Marie-Tooth disease type IB (CMT 1B) is caused by mutations in the gene coding for peripheral myelin protein zero (MPZ, P0) that plays a fundamental role in adhesion and compaction of peripheral myelin. Here we report a Costa Rican family with a hereditary peripheral neuropathy due to a novel Tyr145Ser MPZ mutation. Four family members were heterozygously affected; two siblings of two heterozygous carriers were homozygous for this mutation. On neurological examination the heterozygous parents and their homozygous children both showed distal sensory deficits. The mother and the siblings displayed impaired deep tendon reflexes and mild sensory ataxia. The homozygous individuals were more severely affected with an earlier age of onset, distal motor weakness, and pupillary abnormalities. Electrophysiological studies revealed both signs of demyelination and axonal nerve degeneration. The sural nerve biopsy of one sibling showed thinly myelinated nerve fibers, onion bulb formation, and clusters of regenerating fibers. On electron microscopy axonal degeneration and decompaction of inner myelin layers were found. This Costa Rican family shows phenotypic variability depending on the homozygous or heterozygous state of the Tyr145Ser mutation carriers.
URI
https://hdl.handle.net/10669/11382
External link to the item
10.1007/s10048-003-0153-0
http://link.springer.com/article/10.1007%2Fs10048-003-0153-0
artículo -- Universidad de Costa Rica. Instituto de Investigaciones en Salud, 2003
 
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