Literature DB >> 26822750

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

D Šafka Brožková1, J Haberlová1, R Mazanec2, J Laštůvková3, P Seeman1.   

Abstract

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.
© 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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Keywords:  CMT4G; Roma/Gypsy; autosomal recessive; hereditary motor and sensory neuropathy - type Russe; inherited peripheral neuropathy

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Year:  2016        PMID: 26822750     DOI: 10.1111/cge.12745

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  2 in total

1.  HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8.

Authors:  Dana Šafka Brožková; Jaroslava Paulasová Schwabová; Jana Neupauerová; Jana Sabová; Marcela Krůtová; Vladimír Peřina; Marie Trková; Petra Laššuthová; Pavel Seeman
Journal:  J Hum Genet       Date:  2016-12-22       Impact factor: 3.172

2.  Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant.

Authors:  Dana Safka Brozkova; Lukas Varga; Anna Uhrova Meszarosova; Zuzana Slobodova; Martina Skopkova; Andrea Soltysova; Andrej Ficek; Jan Jencik; Jana Lastuvkova; Daniela Gasperikova; Pavel Seeman
Journal:  Orphanet J Rare Dis       Date:  2020-08-26       Impact factor: 4.123

  2 in total

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