Molecular diagnostics of charcot-marie-tooth disease and related peripheral neuropathies

Kinga Szigeti; Eva Nelis; James R. Lupski

doi:10.1385/NMM:8:1-2:243

Molecular diagnostics of charcot-marie-tooth disease and related peripheral neuropathies

Kinga Szigeti
, Eva Nelis
, James R. Lupski

Neurology

Flanders Institute for Biotechnology
University of Antwerp
Baylor College of Medicine
Texas Children's Hospital Houston

Research output: Contribution to journal › Review article › peer-review

35 Scopus citations

Abstract

DNA diagnostics plays an important role in the characterization and management of patients manifesting inherited peripheral neuropathies. We describe the clinical integration of molecular diagnostics with medical history, physical examination, and electrophysiological studies. Molecular testing can help establish a secure diagnosis, enable genetic counseling regarding recurrence risk, potentially provide prognostic information, and in the near future may be important for the choice of therapies.

Original language	English
Pages (from-to)	243-253
Number of pages	11
Journal	NeuroMolecular Medicine
Volume	8
Issue number	1-2
DOIs	https://doi.org/10.1385/NMM:8:1-2:243
State	Published - Mar 2006

Keywords

Charcot-Marie-Tooth disease
CHN
CMT
CMT1A duplication
Congenital hypomyelinating neuropathy
Dejerine-Sottas neuropathy
DSN
Hereditary neuropathy with liability to pressure palsies
HNPP
HNPP deletion
Molecular diagnostics

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10.1385/NMM:8:1-2:243

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title = "Molecular diagnostics of charcot-marie-tooth disease and related peripheral neuropathies",

abstract = "DNA diagnostics plays an important role in the characterization and management of patients manifesting inherited peripheral neuropathies. We describe the clinical integration of molecular diagnostics with medical history, physical examination, and electrophysiological studies. Molecular testing can help establish a secure diagnosis, enable genetic counseling regarding recurrence risk, potentially provide prognostic information, and in the near future may be important for the choice of therapies.",

keywords = "Charcot-Marie-Tooth disease, CHN, CMT, CMT1A duplication, Congenital hypomyelinating neuropathy, Dejerine-Sottas neuropathy, DSN, Hereditary neuropathy with liability to pressure palsies, HNPP, HNPP deletion, Molecular diagnostics",

author = "Kinga Szigeti and Eva Nelis and Lupski, \{James R.\}",

year = "2006",

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AU - Szigeti, Kinga

AU - Nelis, Eva

AU - Lupski, James R.

PY - 2006/3

Y1 - 2006/3

N2 - DNA diagnostics plays an important role in the characterization and management of patients manifesting inherited peripheral neuropathies. We describe the clinical integration of molecular diagnostics with medical history, physical examination, and electrophysiological studies. Molecular testing can help establish a secure diagnosis, enable genetic counseling regarding recurrence risk, potentially provide prognostic information, and in the near future may be important for the choice of therapies.

AB - DNA diagnostics plays an important role in the characterization and management of patients manifesting inherited peripheral neuropathies. We describe the clinical integration of molecular diagnostics with medical history, physical examination, and electrophysiological studies. Molecular testing can help establish a secure diagnosis, enable genetic counseling regarding recurrence risk, potentially provide prognostic information, and in the near future may be important for the choice of therapies.

KW - Charcot-Marie-Tooth disease

KW - CHN

KW - CMT

KW - CMT1A duplication

KW - Congenital hypomyelinating neuropathy

KW - Dejerine-Sottas neuropathy

KW - DSN

KW - Hereditary neuropathy with liability to pressure palsies

KW - HNPP

KW - HNPP deletion

KW - Molecular diagnostics

UR - https://www.scopus.com/pages/publications/33745234241

U2 - 10.1385/NMM:8:1-2:243

DO - 10.1385/NMM:8:1-2:243

M3 - Review article

C2 - 16775379

AN - SCOPUS:33745234241

SN - 1535-1084

VL - 8

SP - 243

EP - 253

JO - NeuroMolecular Medicine

JF - NeuroMolecular Medicine

IS - 1-2

ER -

Molecular diagnostics of charcot-marie-tooth disease and related peripheral neuropathies

Abstract

Keywords

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