Dorsal root ganglia volume is increased in patients with the Fabry-related GLA variant p.D313Y

• Verfasst von: Godel, Tim [VerfasserIn]
• Verfasst von: Bäumer, Philipp [VerfasserIn]
• Verfasst von: Kronlage, Moritz [VerfasserIn]
• Verfasst von: Hayes, Jennifer [VerfasserIn]
• Verfasst von: Heiland, Sabine [VerfasserIn]
• Verfasst von: Bendszus, Martin [VerfasserIn]
• Titel: Dorsal root ganglia volume is increased in patients with the Fabry-related GLA variant p.D313Y
• Verf.angabe: Tim Godel, Philipp Bäumer, Katharina Stumpfe, Nicole Muschol, Moritz Kronlage, Merle Brunnée, Jennifer Kollmer, Sabine Heiland, Martin Bendszus, Victor-Felix Mautner
• E-Jahr: 2019
• Jahr: 4 March 2019
• Umfang: 8 S.
• Fussnoten: Gesehen am 19.06.2019
• Titel Quelle: Enthalten in: Journal of neurology
• Ort Quelle: [Darmstadt] : Steinkopff, 1891
• Jahr Quelle: 2019
• Band/Heft Quelle: 266(2019), 6, Seite 1332-1339
• ISSN Quelle: 1432-1459
• DOI: doi:10.1007/s00415-019-09262-8
• Datenträger: Online-Ressource
• Sprache: eng
• Sach-SW: Dorsal root ganglia
• Sach-SW: Fabry disease
• Sach-SW: Magnetic resonance neurography
• Sach-SW: Neuropathic pain
• Sach-SW: Peripheral neuropathy
• K10plus-PPN: 1667693751

Abstract

Purpose: To examine dorsal root ganglia and proximal nerve segments in patients carrying the Fabry-related GLA-gene variant p.D313Y in comparison to patients with classical Fabry mutations and healthy controls by morphometric and functional magnetic resonance neurography. Methods: This prospective multicenter study examines the lumbosacral dorsal root ganglia and sciatic nerve in 11 female p.D313Y patients by a standardized magnetic resonance neurography protocol at 3 T. Volumes of dorsal root ganglia L3 to S2, permeability of dorsal root ganglia L5 and S1, and spinal nerve L5 as well as cross-sectional area of the sciatic nerve were assessed and compared to 10 females carrying a classical Fabry mutation and 16 healthy female controls. Results: Compared to healthy controls, dorsal root ganglia volumes of p.D313Y females were enlarged by 53% (L3), 48% (L4), 43% (L5), 57% (S1) (p < 0.001), and 55% (S2) (p < 0.05), but less pronounced compared to females carrying a classical Fabry mutation. Compared to healthy controls, p.D313Y patients showed no changes of dorsal root ganglia vascular permeability, while patients with a classical Fabry mutation showed a distinct decrease (p < 0.05). Sciatic nerve cross-sectional area was mildly increased by 6% in p.D313Y as well as in classical Fabry patients (p < 0.05). Conclusions: Patients carrying the GLA-gene variant p.D313Y show distinctly enlarged dorsal root ganglia, while vascular permeability remains within normal limits. Overall, these alterations partially share characteristics commonly seen in patients with a mutation causing classical FD. This suggests that p.D313Y causes a potentially treatable condition resembling an early stage of Fabry disease.