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Literature DB >> 15205993

A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.

Kleopas A Kleopa¹, Domna-Maria Georgiou, Paschalis Nicolaou, Pantelitsa Koutsou, Eleftherios Papathanasiou, Theodoros Kyriakides, Kyproula Christodoulou.

Abstract

We describe a Cypriot family in which some family members presented with episodes of pressure palsies, while other family members had a slowly progressive chronic polyneuropathy typical of the Charcot-Marie-Tooth type 1 phenotype. All family members were evaluated clinically, with nerve conduction studies, and with genetic testing. In all affected individuals there was clinical and electrophysiological evidence of diffuse demyelinating sensorimotor polyneuropathy and a novel point mutation in the PMP22 gene (Ser22Phe) was identified.

Entities: CellLine Disease Gene Mutation

Mesh：

Substances：

Year: 2004 PMID： 15205993 DOI： 10.1007/s10048-004-0184-1

Source DB: PubMed Journal: Neurogenetics ISSN： 1364-6745 Impact factor: 2.660

27 in total

1. PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?

Authors: E Nelis; B Holmberg; R Adolfsson; G Holmgren; C van Broeckhoven
Journal: Nat Genet Date: 1997-01 Impact factor: 38.330

2. Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot-Marie-Tooth type 1A.

Authors: C O Hanemann; D D'Urso; A A Gabreëls-Festen; H W Müller
Journal: Brain Date: 2000-05 Impact factor: 13.501

3. Deletions of chromosome 17p11.2 in multifocal neuropathies.

Authors: J Tyson; S Malcolm; P K Thomas; A E Harding
Journal: Ann Neurol Date: 1996-02 Impact factor: 10.422

4. Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies.

Authors: R Naef; U Suter
Journal: Neurobiol Dis Date: 1999-02 Impact factor: 5.996

5. PMP22 Thr118Met is not a clinically relevant CMT1 marker.

Authors: P Young; F Stögbauer; B Eller; P de Jonghe; A Löfgren; V Timmerman; B Rautenstrauss; K Oexle; H Grehl; G Kuhlenbäumer; C Van Broeckhoven; E B Ringelstein; H Funke
Journal: J Neurol Date: 2000-09 Impact factor: 4.849

6. Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22.

Authors: D D'Urso; R Prior; R Greiner-Petter; A A Gabreëls-Festen; H W Müller
Journal: J Neurosci Date: 1998-01-15 Impact factor: 6.167

7. Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation.

Authors: P P Lenssen; A A Gabreëls-Festen; L J Valentijn; P J Jongen; S E van Beersum; B G van Engelen; P J van Wensen; P A Bolhuis; F J Gabreëls; E C Mariman
Journal: Brain Date: 1998-08 Impact factor: 13.501

A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.

1. PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?

2. Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot-Marie-Tooth type 1A.

3. Deletions of chromosome 17p11.2 in multifocal neuropathies.

4. Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies.

5. PMP22 Thr118Met is not a clinically relevant CMT1 marker.

6. Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22.

7. Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation.

8. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.

9. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.

10. Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.

1. Inheritance of Charcot-Marie-Tooth disease 1A with rare nonrecurrent genomic rearrangement.

Review 2. New evidence for secondary axonal degeneration in demyelinating neuropathies.

3. Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.