Premium
Features of the blink reflex in individuals at risk for Huntington's disease
Author(s) -
de Tommaso Marina,
Sciruicchio Vittorio,
Spinelli Antonella,
Specchio Nicola,
Difruscolo Olimpia,
Puca Francomichele,
Specchio Luigi Maria
Publication year - 2001
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.1177
Subject(s) - corneal reflex , chorea , huntington's disease , asymptomatic , brainstem , psychology , medicine , reflex , audiology , disease , neuroscience
The aim of the study was to correlate the features of the blink reflex (BR) with the genetic abnormalities and the clinical findings in patients with Huntington's disease (HD) and asymptomatic gene carriers. Twenty patients with HD and 20 relatives were studied. Mutation analysis was performed for the CAG expansion within the HD gene using HD 333–HD 447 as oligonucleotide primers. The BR was elicited transcutaneously by electrical stimulation of the right supraorbital nerve. The recovery curve of the R2 and R3 responses after a conditioning stimulus was evaluated. R2 latency and duration and R3 duration were significantly increased in HD patients and in presymptomatic carriers in comparison with controls; reduced R2 recovery was also clear in both HD and gene‐carrier relatives. In HD patients, the R2 latency increase correlated significantly with the severity of facial chorea. The R2 abnormalities are probably caused by impaired suprasegmental control by the basal ganglia over brainstem interneurons, which may precede the onset of involuntary movements, probably conditioning the severity of facial chorea during development of the disease.© 2001 John Wiley & Sons, Inc. Muscle Nerve 24: 1520–1525, 2001