Clinical characterization and genetic analysis of a possible novel type of domin

[Guest guest]

Neuromuscul Disord. 2010 Jun 3

Clinical characterization and genetic analysis of a possible novel type of

dominant Charcot-Marie-Tooth disease.

Lee YC, Lee TC, Lin KP, Lin MW, Chang MH, Soong BW.

Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan;

Department of Neurology, National Yang-Ming University School of Medicine,

Taipei, Taiwan.

Abstract

A family of dominant Charcot-Marie-Tooth disease with eleven members, six of

them symptomatic, was characterized clinically and genetically. The ages at

onset ranged from 10 to 45years, and the clinical severity varied from no

symptom to being wheelchair-bound.

The median motor nerve conduction velocities ranged from 16.5 to 45.7m/s.

Men were more severely affected.

The sural nerve biopsies in two patients featured demyelinating

changes.

No mutation in PMP22, MPZ, GJB1, NEFL, LITAF, EGR2, MFN2, HSP27, HSP22, GADP1,

YARS, and DNM2 genes was found in the proband.

Haplotype analyzes excluded linkage to the previously reported dominant CMT

loci. A genomewide screen with 400 microsatellite markers and multipoint linkage

analyzes revealed that the highest LOD score was around 1.6 on chromosome

3q28-q29, suggestive of a weak but possible linkage at this locus.

The results of this study implicate the existence of a novel genetic locus for

this syndrome.

[Guest guest]

This paper is written by researchers in Taiwan.

Taiwanese government uses large percent of the budget to encourage

Bio-related research.

I am very happy to see this paper about CMT.

On Sun, Jul 18, 2010 at 2:00 AM, <-owner > wrote:

>

>

> Neuromuscul Disord. 2010 Jun 3

>

> Clinical characterization and genetic analysis of a possible novel type of

> dominant Charcot-Marie-Tooth disease.

>

> Lee YC, Lee TC, Lin KP, Lin MW, Chang MH, Soong BW.

>

> Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan;

> Department of Neurology, National Yang-Ming University School of Medicine,

> Taipei, Taiwan.

>

> Abstract

> A family of dominant Charcot-Marie-Tooth disease with eleven members, six

> of them symptomatic, was characterized clinically and genetically. The ages

> at onset ranged from 10 to 45years, and the clinical severity varied from no

> symptom to being wheelchair-bound.

>

> The median motor nerve conduction velocities ranged from 16.5 to 45.7m/s.

>

> Men were more severely affected.

>

> The sural nerve biopsies in two patients featured demyelinating

> changes.

>

> No mutation in PMP22, MPZ, GJB1, NEFL, LITAF, EGR2, MFN2, HSP27, HSP22,

> GADP1, YARS, and DNM2 genes was found in the proband.

>

> Haplotype analyzes excluded linkage to the previously reported dominant CMT

> loci. A genomewide screen with 400 microsatellite markers and multipoint

> linkage analyzes revealed that the highest LOD score was around 1.6 on

> chromosome 3q28-q29, suggestive of a weak but possible linkage at this

> locus.

>

> The results of this study implicate the existence of a novel genetic locus

> for this syndrome.

>

>

>

--

May you be well and happy

Caroline