Σφακιανάκης Αλέξανδρος
ΩτοΡινοΛαρυγγολόγος
Αναπαύσεως 5 Άγιος Νικόλαος
Κρήτη 72100
00302841026182
00306932607174
alsfakia@gmail.com

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Πέμπτη 28 Δεκεμβρίου 2017

Founder mutation in IKBKAP gene causes vestibular impairment in familial dysautonomia

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Publication date: February 2018
Source:Clinical Neurophysiology, Volume 129, Issue 2
Author(s): Joel V. Gutiérrez, Horacio Kaufmann, Jose-Alberto Palma, Carlos Mendoza-Santiesteban, Vaughan G. Macefield, Lucy Norcliffe-Kaufmann
ObjectiveTo assess vestibular function in patients with familial dysautonomia (FD), a hereditary sensory and autonomic neuropathy – caused by a mutation in the IKBKAP gene (c.2204 + 6 T>C) – and characterized by marked gait ataxia.MethodsCervical and vestibular evoked myogenic potentials (cVEMPs and oVEMPs) were recorded from the sternocleidomastoid (SCM) and extraocular muscles in 14 homozygous patients, 2 heterozygous patients, and 15 healthy controls during percussion of the forehead.ResultscVEMP and oVEMP amplitudes were significantly lower, and peak latencies significantly delayed, in the FD patients. There were no differences in overall EMG during attempted maximal voluntary contractions of the SCM muscle, suggesting intact efferent function. The two heterozygotes with a minor haplotype missense (R696P) mutation in exon 19 of the IKBKAP gene had cVEMP responses less affected than the homozygous.ConclusionsThe founder mutation in the IKBKAP gene affects the development of vestibular afferent pathways, leading to attenuated cVEMPs.SignificanceVestibular abnormalities may contribute to the gait ataxia in FD.



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