| Title : A novel NDRG1 mutation in a non-Romani patient with CMT4D\/HMSN-Lom - Piscosquito_2017_J.Peripher.Nerv.Syst_22_47 |
| Author(s) : Piscosquito G , Magri S , Saveri P , Milani M , Ciano C , Farina L , Taroni F , Pareyson D |
| Ref : J Peripher Nerv Syst , 22 :47 , 2017 |
| Abstract : Charcot-Marie-Tooth disease type 4D (CMT4D), also known as hereditary motor and sensory neuropathy Lom type (HMSNL), is an autosomal recessive, early onset, severe demyelinating neuropathy with hearing loss, caused by N-Myc downstream-regulated gene 1 (NDRG1) mutations. CMT4D is rare with only three known mutations, one of which (p.Arg148Ter) is found in patients of Romani ancestry and accounts for the vast majority of cases. We report a 38-year-old Italian female with motor development delay, progressive neuropathy, and sensorineural deafness. Magnetic resonance imaging showed slight atrophy of cerebellum, medulla oblongata, and upper cervical spinal cord. She had a novel homozygous NDRG1 frameshift mutation (c.739delC; p.His247ThrfsTer74). The identification of this NDRG1 mutation confirms that CMT4D is not a private Romani disease and should be considered in the differential diagnosis of recessive demyelinating CMT. |
| ESTHER : Piscosquito_2017_J.Peripher.Nerv.Syst_22_47 |
| PubMedSearch : Piscosquito_2017_J.Peripher.Nerv.Syst_22_47 |
| PubMedID: 27982524 |
| Gene_locus related to this paper: human-NDRG1 |
| Gene_locus related to this paper: human-NDRG1 |
Piscosquito G, Magri S, Saveri P, Milani M, Ciano C, Farina L, Taroni F, Pareyson D (2017)
A novel NDRG1 mutation in a non-Romani patient with CMT4D\/HMSN-Lom
J Peripher Nerv Syst
22 :47
Piscosquito G, Magri S, Saveri P, Milani M, Ciano C, Farina L, Taroni F, Pareyson D (2017)
J Peripher Nerv Syst
22 :47