GENOTYPE – PHENOTYPE ASSOCIATIONS IN CHARCOT-MARIE-TOOTH DISEASE

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Abstract

Background. Charcot-Marie-Tooth (CMT) disease is the most common inherited neurological
disorder and affects peripheral nervous system. Disease is caused by mutations in more than 80 genes and
most patients have a “classical” CMT phenotype characterized by onset in the first two decades of life, distal
weakness, sensory loss, foot deformities (pes cavus and hammer toes), and absent ankle reflexes. However,
the frequency of these disease manifestations and the variability between CMT types is poorly understood.
Aim. The goal of the study was to evaluate clinical phenotype differences in three CMT subtypes –
CMT1A, CMTX1 and other CMT type.
Methods. 21 CMT patients were enrolled in the study. Patients completed a sociodemographic
questionnaire. Clinical severity was assessed using the Charcot-Marie-Tooth neuropathy score (CMTNSv2)
and 6-minute walk distance (6MWD).
Results. In our study group, (n=21) the mean age was 37.3±12.5 years, there was a slight female
predominance: 62% (n=13) were females, and 38% (n=8) were males. The majority of patients 42.9%
(n=9) had CMT1A type, 23.8% (n=5) had CMTX1 type and 33.3% (n=7) had other CMT type. The
mean age of first symptom development in CMTX1 type was 11.6±4.9 years, it was earlier in CMT1A
patients (10.8±4.7 years), and later in other CMT type patients (12.4±6.5 years). CMTNSv2 revealed more
severe clinical phenotype in CMTX1 type patients (21.2±7.6), in CMT1A group it was 14.2±3.8 and for
other CMT types – 9.0±9.1, differences were statistically significant (p<0.05). The shortest 6MWD was in
CMTX1 type group (326.0±114.6 m), it was 445.8±59.8 m in CMT1A group and 420.0±139.4 m in other
CMT types, differences were statistically significant (p<0.05).
Conclusion. CMTX1 type patients had a significantly more severe clinical phenotype compared to
CMT1A and other CMT type assessed by CMTNSv2 and 6MWD. Further characterising of the variability
of disease severity between CMT types is important to increase genotype-phenotype association knowledge
and improve our understanding of the prognosis of this disorder.

Field of Science*

  • 3.2 Clinical medicine

Publication Type*

  • 3.4. Other publications in conference proceedings (including local)

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