Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3

Berghoff, Corinna; Berghoff, Martin; Leal, Alejandro; Morera-Brenes, Bernal; Barrantes, Ramiro; Reis, André; Neundörfer, B.; Rautenstrauss, Bernd; Valle, Gerardo Del; Heuss, Dieter

doi:10.1016/j.nmd.2004.02.004

Cited by 19 publications

(14 citation statements)

References 21 publications

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“…ar CMt2B (CMt2B2; MIM 605589) Definition, genetics, and epidemiology AR CMT2B is an axonal CMT subtype, described in a large consanguineous Costa Rican family with adult onset. Homozygous mutations (Ala335Val) in the mediator complex subunit 25 gene (MED25) on chromosome 19q13 were identified as its underlying cause [101][102][103].…”

Section: Pathogenesis and Animal Modelmentioning

confidence: 99%

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Autosomal recessive demyelinating or axonal Charcot–Marie–Tooth neuropathy

Claeys

Lammens

Senderek

et al. 2014

Peripheral Nerve Disorders

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Section: Pathogenesis and Animal Modelmentioning

confidence: 99%

“…Patients manifested distal symmetrical weakness and atrophy and panmodal sensory deficits in all four limbs. Deep tendon reflexes were often absent at the ankles, and reduced to absent elsewhere [101,102]. Foot deformities were mild or absent.…”

Section: Pathogenesis and Animal Modelmentioning

confidence: 99%

Autosomal recessive demyelinating or axonal Charcot–Marie–Tooth neuropathy

Claeys

Lammens

Senderek

et al. 2014

Peripheral Nerve Disorders

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“…The study was approved by the University of Costa Rica. The clinical examination consisted of standardized tests of strength and muscular sensibility (Berghoff et al, 2004). In addition DNA from the family members was obtained from peripheral blood (from individuals II:1, II:2, III:2, III:5, IV:1, IV:3, IV:4, IV:5, IV:6, IV:8, IV:9, IV:10, IV:11, IV:12 and IV:13), via the phenol/chloroform isolation method.…”

mentioning

confidence: 99%

“…In addition DNA from the family members was obtained from peripheral blood (from individuals II:1, II:2, III:2, III:5, IV:1, IV:3, IV:4, IV:5, IV:6, IV:8, IV:9, IV:10, IV:11, IV:12 and IV:13), via the phenol/chloroform isolation method. Standard clinical electrophysiological examinations were performed to three patients (II:2, III:2 and III:3) in the median, ulnar, peroneal and tibial nerves according to Berghoff et al (2004). Since the Thr124Met mutation in exon 3 of MPZ alters a NlaIII restriction site the PCR product of MPZ exon 3 of all family members was digested by the restriction enzyme NlaIII (5´'-CATG-3´).…”

mentioning

confidence: 99%

A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype

Leal

Berghoff

et al. 2014

RBT

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The p.Thr124Met mutation in the myelin protein zero (MPZ) causes the Charcot-Marie-Tooth disease type 2J, a peripheral neuropathy with additional symptoms as pupillary alterations and deafness. It was observed in several families around the world originating e. g. from Germany, Belgium, Japan, Italy and North America. Here we report Central American patients originating from a family in Costa Rica carrying this mutation. Clinical, electrophysiological and molecular analysis of patients and controls were performed, including gene and linked markers´ sequencing. Carriers share almost the entire haplotype with two non related Belgian CMT patients. As a result of the haplotype analysis, based on ten markers (seven SNPs, two microsatellites and an intronic polyA stretch), the founder effect hypothesis for this allele migration is suggestive. Rev. Biol. Trop. 62 (4): 1285-1293. Epub 2014 December 01. Key words:Charcot-Marie-Tooth, peripheral neuropathy, Myelin protein zero, mutation, Costa Rica.Hereditary motor and sensory neuropathy (HMSN), also called Charcot-Marie-Tooth disease (CMT), is a clinically and genetically heterogeneous group of inherited peripheral neuropathies. It is characterized by progressive muscular weakness and atrophy of the distal muscles (Lupski, 1998). By means of electrophysiological and morphological studies, CMT can be divided into two major forms: a predominantly demyelinating (HMSN type I) and an axonal form (HMSN type II) (Dyck, Chance, Lebo, & Carney, 1993).MPZ had been initially related with a hereditary motor and sensorial neuropathy type I (HMSN I), presenting myelin disturbances resulting in reduced nerve conduction velocity (NCV<38m/s) (Hayasaka et al., 1993a). However, families with normal NCV values (HMSN II) have also been associated with MPZ (Senderek et al., 2000). The mutation Thr124Met in the third exon of the protein was found to be responsible for CMT in families with a clinically distinct phenotype, including axonal involvement, frequently deafness, Argyll Robertson-like pupils and dysphagia (Chapon, Latour, Diraison, Schaeffer, & Vandenberghe, 1999;De Jonghe et al., 1999). This mutation has been found in several CMT families. When the polymorphic markers close to the gene and an intronic polymorphism were analyzed it was associated with the same haplotype as two Belgian families. Due to this, it has been suggested that a common ancestor was the founder of this particular mutation (De Jonghe et al., 1999). Nevertheless, Senderek et al. (2000) reported a family with an identical mutation embedded in a distinct haplotype, thus suggesting the existence of a hot-spot in this codon. Not only Belgian (De Jonghe et al., 1999) families with the mutation p.Thr124Met have been reported, also French (Chapon et al., 1999), German (Senderek et al., 2000;Hanemann et al., 2001), Italian (Schiavon et al., 1998), North American (Baloh, Jen, Kim, & Baloh, 2004 and Japanese Kurihara et al., 2002;Numakura, Lin, Ikegami, Guldberg, & Hayasaka, 2002;Kurihara, 2003).Here we report a ...

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“…Μόνο μια οικογένεια από την Costa Rica έχει βρεθεί με ηλικία έναρξης στην 3 η με 5 η δεκαετία της ζωής και με τυπικό CMT2 κλινικό φαινότυπο (Berghoff et al 2004). Χαρακτηρίζεται από φυσιολογικές ή ελαφρώς μειωμένες κινητικές ταχύτητες αγωγής νεύρων.…”

Section: Giovannoli Et Al 2002)unclassified

Μοριακή γενετική μελέτη της κληρονομικής πολυνευροπάθειας Charcot - Marie - Tooth (CMT)

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Η νόσος Charcot-Marie-Tooth (CMT) είναι η συχνότερη κληρονομική νευρολογική πάθηση με συχνότητα 17-40/100,000. Ταξινομείται στον απομυελινωτικό, αξονικό και μεικτό τύπο και κληρονομείται με επικρατητικό, υπολειπόμενο και φυλοσύνδετο τύπο. Τα κύρια χαρακτηριστικά της πάθησης είναι η αδυναμία των περιφερικών μυών των κάτω άκρων με τη χαρακτηριστική παραμόρφωση του άκρου ποδός (pes cavus), περιφερική αδυναμία των μυών των άνω άκρων και σε μικρότερο βαθμό αισθητικές διαταραχές. Έχουν αναγνωριστεί μέχρι σήμερα περίπου 25 γονίδια με μεγάλο αριθμό μεταλλάξεων, τα οποία ενέχονται στην αιτιοπαθογένεια της νόσου με έκφραση, είτε στα κύτταρα του Schwann, είτε στους άξονες ή και στα δύο. Στα πλαίσια της παρούσας διδακτορικής διατριβής διεξάχθηκε επιδημιολογική μελέτη της CMT στον Κυπριακό πληθυσμό. Διαγνώστηκαν 13 οικογένειες με το διπλασιασμό του γονιδίου PMP22, τρεις οικογένειες με σημειακή μετάλλαξη στο γονίδιο PMP22, τέσσερις οικογένειες με σημειακές μεταλλάξεις στο γονίδιο GJB1 (Cx32), δύο με σημειακές μεταλλάξεις στο γονίδιο MPZ και δύο με σημειακές μεταλλάξεις στο γονίδιο MFN2. Εννέα οικογένειες και οκτώ σποραδικοί ασθενείς αποκλείστηκαν από τα γνωστά γονίδια της CMT και χρήζουν περαιτέρω διερεύνησης. Επίσης μελετήθηκαν επιπρόσθετα έξι νέες οικογένειες και δύο νέοι ασθενείς υφιστάμενης οικογένειας από την Κύπρο καθώς και πέντε οικογένειες και τέσσερις σποραδικοί ασθενείς από τη Θεσσαλία. Από αυτές βρέθηκαν δύο νέες οικογένειες με τη μετάλλαξη S22F στο γονίδιο PMP22 και δυο οικογένειες από την Ελλάδα με διπλασιασμό του γονιδίου PMP22. Οι υπόλοιποι ασθενείς χρήζουν περαιτέρω διερεύνησης. Συμπερασματικά, η συχνότερη μετάλλαξη, όπως και παγκοσμίως, είναι ο διπλασιασμός του γονιδίου PMP22, καθώς επίσης και η παρουσία πέντε νέων μεταλλάξεων στον Κυπριακό πληθυσμό.

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Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3

Cited by 19 publications

References 21 publications

Autosomal recessive demyelinating or axonal Charcot–Marie–Tooth neuropathy

Autosomal recessive demyelinating or axonal Charcot–Marie–Tooth neuropathy

A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype

Μοριακή γενετική μελέτη της κληρονομικής πολυνευροπάθειας Charcot - Marie - Tooth (CMT)

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