Dackovic_2008_Acta.Myol_27_59

Reference

Title : Hereditary motor and sensory neuropathy Lom type in a Serbian family - Dackovic_2008_Acta.Myol_27_59
Author(s) : Dackovic J , Keckarevic-Markovic M , Komazec Z , Rakocevic-Stojanovic V , Lavrnic D , Stevic Z , Ribaric K , Romac S , Apostolski S
Ref : Acta Myol , 27 :59 , 2008
Abstract :

Hereditary motor and sensory neuropathy Lom type (HMSNL), also called CMT 4D, a hereditary autosomal recessive neuropathy, caused by mutation in N-Myc downstream regulated gene 1 (NDRG1 gene), was first described in a Bulgarian Gypsy population near Lom and later has been found in Gypsy communities in Italy, Spain, Slovenia and Hungary. We present two siblings with HMSNL, female and male, aged 30 and 26, respectively in a Serbian non-consanguineous family of Gypsy ethnic origin. They had normal developmental milestones. Both had symptoms of lower limb muscle weakness and walking difficulties with frequent falls, which began at the age of seven. At the age of 12, they developed hearing problems and at the age of 15 hand muscle weakness. Neurological examination revealed sensorineural hearing loss, dysarthria, severe distal and mild proximal muscle wasting and weakness, areflexia and impairment of all sensory modalities of distal distribution. Electrophysiological study revealed denervation with severe and early axonal loss. Sensorineural hearing loss was confirmed on electrocochleography and brainstem evoked potentials. Molecular genetic testing confirmed homozygote C564t (R148X) mutation in NDRG1 gene.

PubMedSearch : Dackovic_2008_Acta.Myol_27_59
PubMedID: 19364063
Gene_locus related to this paper: human-NDRG1

Related information

Mutation R148X_human-NDRG1
Gene_locus human-NDRG1

Citations formats

Dackovic J, Keckarevic-Markovic M, Komazec Z, Rakocevic-Stojanovic V, Lavrnic D, Stevic Z, Ribaric K, Romac S, Apostolski S (2008)
Hereditary motor and sensory neuropathy Lom type in a Serbian family
Acta Myol 27 :59

Dackovic J, Keckarevic-Markovic M, Komazec Z, Rakocevic-Stojanovic V, Lavrnic D, Stevic Z, Ribaric K, Romac S, Apostolski S (2008)
Acta Myol 27 :59