HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL

Hereditary motor and sensory neuropathy type Russe (HMSNR), also called CMT4G, is an autosomal recessive inherited peripheral neuropathy (IPN) caused by a founder mutation in the HK1 gene. HMSNR affects only patients with Roma origin, similar to the better known HMSN type Lom clarified earlier. By t...

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Bibliographic Details
Published in:Clinical genetics 2016-08, Vol.90 (2), p.161-165
Main Authors: Šafka Brožková, D., Haberlová, J., Mazanec, R., Laštůvková, J., Seeman, P.
Format: Article
Language:English
Subjects:
Adolescent
Adult
autosomal recessive
Charcot-Marie-Tooth Disease - diagnosis
Charcot-Marie-Tooth Disease - ethnology
Charcot-Marie-Tooth Disease - genetics
Charcot-Marie-Tooth Disease - pathology
Child
Child, Preschool
CMT4G
Czech Republic
Female
Founder Effect
Gene Expression
Genes, Recessive
Genetic disorders
Haplotypes
hereditary motor and sensory neuropathy - type Russe
Hereditary Sensory and Motor Neuropathy - diagnosis
Hereditary Sensory and Motor Neuropathy - ethnology
Hereditary Sensory and Motor Neuropathy - genetics
Hereditary Sensory and Motor Neuropathy - pathology
Heterozygote
Hexokinase - genetics
Homozygote
Humans
inherited peripheral neuropathy
Male
Middle Aged
Mutation
Pedigree
Population genetics
Refsum Disease - diagnosis
Refsum Disease - ethnology
Refsum Disease - genetics
Refsum Disease - pathology
Roma
Roma/Gypsy
Romani people
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Description
Summary:Hereditary motor and sensory neuropathy type Russe (HMSNR), also called CMT4G, is an autosomal recessive inherited peripheral neuropathy (IPN) caused by a founder mutation in the HK1 gene. HMSNR affects only patients with Roma origin, similar to the better known HMSN type Lom clarified earlier. By testing IPN patients with Roma origin, we realized that HMSNR affects surprisingly many patients in the Czech Republic. HMSNR is one of the most frequent types of IPN in this country and appears to be twice more frequent than HMSNL. Pronounced lower limb atrophies and severe deformities often lead to walking inability in even young patients, but hands are usually only mildly affected even after many years of disease duration. The group of 20 patients with HMSNR presented here is the first report about the prevalence of HMSNR from central Europe.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.12745