CMT4G – Rare Form of Charcot-Marie-Tooth Disease in Slovak Roma Patient

The Roma (Gypsies) is a transnational minority with a
high degree of consanguineous marriages. Similar to other
genetically isolated founder populations, the Roma harbor a number
of unique or rare genetic disorders. This paper discusses about a rare
form of Charcot-Marie-Tooth disease – type 4G (CMT4G), also
called Hereditary Motor and Sensory Neuropathy type Russe, an
autosomal recessive disease caused by mutation private to Roma
characterized by abnormally increased density of non-myelinated
axons. CMT4G was originally found in Bulgarian Roma and in 2009
two putative causative mutations in the HK1 gene were identified.
Since then, several cases were reported in Roma families mainly
from Bulgaria and Spain. Here we present a Slovak Roma family in
which CMT4G was diagnosed on the basis of clinical examination
and genetic testing. This case is a further proof of the role of the HK1
gene in pathogenesis of the disease. It confirms that mutation in the
HK1 gene is a common cause of autosomal recessive CMT disease in
Roma and should be considered as a common part of a diagnostic
procedure.

• Dana Gabriková
• Martin Mistrík
• Jarmila Bernasovská
• Iveta Tóthová
• Jana Kisková

• Gypsies
• HK1
• HSMN-Russe
• rare disease.

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