Cristin-resultat-ID: 1822991
Sist endret: 13. august 2020, 14:09
NVI-rapporteringsår: 2020
Resultat
Vitenskapelig artikkel
2020

Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene

Bidragsytere:
  • Gian Maria Fabrizi
  • Helle Høyer
  • Federica Taioli
  • Tiziana Cavallaro
  • Hilde T Hilmarsen
  • Giovanna Maddalena Squintani
  • mfl.

Tidsskrift

Neuromuscular Disorders
ISSN 0960-8966
e-ISSN 1873-2364
NVI-nivå 1

Om resultatet

Vitenskapelig artikkel
Publiseringsår: 2020
Volum: 30
Hefte: 3
Sider: 227 - 231

Importkilder

Scopus-ID: 2-s2.0-85079760526

Beskrivelse Beskrivelse

Tittel

Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene

Sammendrag

The Tropomyosin-receptor kinase fused gene (TFG) encodes TFG which is expressed in spinal motor neurons, dorsal root ganglia and cranial nerve nuclei, and plays a role in the dynamics of the endoplasmic reticulum. Two dominant missense TFG mutations have previously been reported in limited geographical areas (Far East, Iran, China) in association with hereditary motor sensory neuropathy with proximal involvement (HMSN-P) of the four limbs, or with Charcot-Marie-Tooth disease type 2 (CMT2). The 60-year-old female proband belonging to a three-generation Italian family presented with an atypical neuropathy characterized by diffuse painful cramps and prominent motor-sensory impairment of the distal upper limbs. Her sural nerve biopsy showed chronic axonal neuropathy without active degeneration or regeneration. Targeted next-generation sequencing of a panel with 98 genes associated with inherited peripheral neuropathies/neuromuscular disorders identified three candidate genes: TFG, DHTKD1 and DCTN2. In the family, the disease co-segregated with the TFG p.(Gly269Val) variant. TFG should be considered in genetic testing of patients with heterogeneous inherited neuropathy, independently of their ethnic origin.

Bidragsytere

Gian Maria Fabrizi

  • Tilknyttet:
    Forfatter
    ved Italia

Helle Høyer

  • Tilknyttet:
    Forfatter
    ved Medisinsk serviceklinikk ved Sykehuset Telemark HF

Federica Taioli

  • Tilknyttet:
    Forfatter
    ved Italia

Tiziana Cavallaro

  • Tilknyttet:
    Forfatter
    ved Italia

Hilde Tveitan Hilmarsen

Bidragsyterens navn vises på dette resultatet som Hilde T Hilmarsen
  • Tilknyttet:
    Forfatter
    ved Medisinsk serviceklinikk ved Sykehuset Telemark HF
1 - 5 av 8 | Neste | Siste »