title: HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL.
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.
authors.affiliation: DNA laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
authors.forename: D
authors.initials: D
authors.lastname: Šafka Brožková
authors.affiliation: DNA laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
authors.forename: J
authors.initials: J
authors.lastname: Haberlová
authors.affiliation: Department of Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
authors.forename: R
authors.initials: R
authors.lastname: Mazanec
authors.affiliation: Department of Medical Genetics, Masaryk Hospital, Regional Health Corporation, Ústí nad Labem, Czech Republic.
authors.forename: J
authors.initials: J
authors.lastname: Laštůvková
authors.affiliation: DNA laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
authors.forename: P
authors.initials: P
authors.lastname: Seeman
mesh_terms: D000293:Adolescent; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D018153:Czech Republic; D005260:Female; D018703:Founder Effect; D015870:Gene Expression; D005808:Genes, Recessive; D006239:Haplotypes; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D006579:Heterozygote; D006593:Hexokinase / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D012035:Refsum Disease / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D006178:Romani People
chemical_list: C472074:HK1 protein, human; D006593:Hexokinase
keywords: CMT4G; Roma/Gypsy; autosomal recessive; hereditary motor and sensory neuropathy - type Russe; inherited peripheral neuropathy