http://www.ncbi.nlm.nih.gov/pubmed/18227419?ordinalpos=1&itool=EntrezSystem2.PEn\
trez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_Discovery_RA&linkpo\
s=3&log$=relatedarticles&logdbfrom=pubmed

Neurology. 2008 Jan 29;70(5):378-83
Neuropathy progression in Charcot-Marie-Tooth disease type 1A.
Shy ME, Chen L, Swan ER, Taube R, Krajewski KM, Herrmann D, Lewis RA, McDermott
MP.
Wayne State University, Department of Neurology, Center for Molecular Medicine
and Genetics, 421 Ea Canfield, Detroit, MI 48201, USA. m.shy@...

OBJECTIVE: To determine the rate of disease progression in Charcot-Marie-Tooth
disease type 1A (CMT1A).

BACKGROUND: CMT1A is the most common inherited peripheral neuropathy, affecting
approximately 1:5,000 people irrespective of ethnic background or gender. There
is no cure for CMT1A. Clinical trials are being initiated that use the CMT
Neuropathy Score (CMTNS), a composite score based on patient symptoms, signs,
and neurophysiologic abnormalities, as the primary outcome variable. The
sensitivity of the CMTNS or any other score to change over time, as a measure of
CMT1A progression, has yet to be determined.

METHODS: We determined the CMTNS as well as the Neuropathy Impairment Score
(NIS) on 72 patients followed for up to 8 years. The rate of disease progression
was evaluated for the CMTNS and NIS using mixed effects linear regression
models, adjusting for age and gender.

RESULTS: Both CMTNS and NIS showed changes over time. The CMTNS increased an
average of 0.686 points per year (95% CI 0.461 to 0.911, p <or= 0.0001). The NIS
increased 1.368 points per year on average (95% CI 0.616 to 2.121, p = 0.0005).
There was a suggestion that the rate of progression increased with age.

CONCLUSION: Progression of CMT1A can be detected by both the CMT Neuropathy
Score (CMTNS) and the Neuropathy Impairment Score (NIS). This supports the
feasibility of clinical trials to detect a slowing of disease progression using
either or both of these scales as outcome measures. Since the CMTNS combines
symptoms, signs, and electrophysiology and the NIS is based solely on the
neurologic examination, the two scales may be complementary.



PMID: 18227419 [PubMed - indexed for MEDLINE


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