0000000000313220
AUTHOR
Wiebke Müller-forell
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.
AbstractPendred syndrome (PS) is the most common cause of syndromic deafness, accounting for more than 5% of all autosomal-recessive hearing loss cases. It is characterized by bilateral sensorineural hearing loss and by goiter with or without hypothyroidism. Mutations in the SLC26A4 gene cause both classical PS and deafness associated with an enlarged vestibular aqueduct without goiter.To investigate a possible genotype-phenotype correlation in PS, we performed a detailed clinical and genetic study in three adult German sibs with typical PS caused by a common homozygous SLC26A4 mutation, T416P. An audiological long-term follow-up of 23 yr showed that the mutation T416P is associated with a …
Subcortical somatosensory evoked potentials after median nerve and posterior tibial nerve stimulation in high cervical cord compression of achondroplasia.
Abstract Children with achondroplasia may have high cervical myelopathy from stenosis of the cranio-cervical junction resulting in neurological disability and an increased rate of sudden death. To detect myelopathy we recorded somatosensory evoked potentials after median nerve (MN) and posterior tibial nerve (PTN) stimulation in 77 patients with achondroplasia aged 0.3–17.8 years (mean 2.7 years). In addition to the conventional technique of recording the cortical components and the central conduction time (CCT) we employed non-cephalic and mastoid reference electrodes to record the subcortical waveforms N13b and P13 (MN-SEP) as well as P30 (PTN-SEP), respectively, which are generated near …