Congenital insensitivity to pain with anhidrosis is a rare disease with an autosomal recessive inheritance. The patients present in early childhood with frequent episodes of fever and absence of sweating. Painless fractures, bruises and cuts are quite common. Defective lacrimation and mental retardation are strongly diagnostic. Repeated injuries often lead to a reduced life expectancy. The diag...

We describe a case of hereditary congenital mirror movements (MMs) in a 76-year-old man, who after an ischemic stroke, had persistence of MMs in the paretic hand during voluntary movements of the contralateral arm. By using functional MR imaging to investigate the performance of motor and sensory tasks with the affected and the unaffected hands, we found evidence for increased ipsilateral prima...

Non syndromic hearing impairment is a common sensory disorder, which affects one in 600 newborns. Though more than 50 nuclear genes are involved in causing non syndromic hearing impairment, mutations in the connexin 26 (GJB2) gene explain a high proportion of congenital deafness in several populations worldwide. The diversity of genes and genetic loci implicated in hearing loss defines the comp...

Previous imaging studies of congenital blindness have studied individuals with heterogeneous causes of blindness, which may influence the nature and extent of cross-modal plasticity. Here, we scanned a homogeneous group of blind people with bilateral congenital anophthalmia, a condition in which both eyes fail to develop, and, as a result, the visual pathway is not stimulated by either light or...

AIM To indicate that congenital idiopathic nystagmus (CIN) and sensory defect nystagmus (SDN) can be vertical or asymmetric in some children. METHODS Of 276 children presenting with nystagmus for electrophysiological testing, 14 were identified as having CIN or SDN, yet had a nystagmus which was either vertical (n=11) or horizontal asymmetric (n=3). Flash electroretinograms and flash and patt...

Food is evaluated for various attributes. One of the key food evaluation domains is hedonicity. As food is consumed, its hedonic valence decreases (due to prolonged sensory stimulation) and hedonic habituation results. The aim of the present study was to investigate changes in food pleasantness ratings during consumption of a simple food by individuals without olfactory experience with food as ...

Tinnitus is the conscious perception of sound heard in the absence of physical sound sources internal or external to the body. The characterization of tinnitus by its spectrum reflects the missing frequencies originally represented in the hearing loss, i.e., partially or completely deafferented, region. The tinnitus percept, despite a total hearing loss, may thus be dependent on the persisting ...

BACKGROUND Latent nystagmus is a horizontal binocular oscillation that is evoked by unequal visual input to the 2 eyes. It develops primarily in humans with congenital esotropia. OBJECTIVE To investigate the interrelationship between latent and peripheral vestibular nystagmus and their corollary neuroanatomical pathways. METHODS Examination of subcortical neuroanatomical pathways producing ...

Naturally occurring sensory deprivation in humans provides a unique opportunity to identify sensitive phases for the development of neuro-cognitive functions. Patients who had experienced a transient period of congenital visual deprivation due to bilateral dense cataracts (congenital cataract, cc) have shown, after visual re-afferentation, deficits in a number of higher visual functions includi...

INTRODUCTION In congenital visual impaired individuals one modality is impaired (visual modality) this impairment is compensated by other sensory modalities. There is evidence that visual impaired performed better in different auditory task like localization, auditory memory, verbal memory, auditory attention, and other behavioural tasks when compare to normal sighted individuals. OBJECTIVE T...