Features of the blink reflex in individuals at risk for Huntington's disease

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...

Full description

Saved in:
Bibliographic Details
Published in:Muscle & nerve 2001-11, Vol.24 (11), p.1520-1525
Main Authors: de Tommaso, Marina, Sciruicchio, Vittorio, Spinelli, Antonella, Specchio, Nicola, Difruscolo, Olimpia, Puca, Francomichele, Specchio, Luigi Maria
Format: Article
Language:English
Subjects:
Adult
Aged
Biological and medical sciences
blink reflex
Blinking
CAG expansion
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Female
Heterozygote
Humans
Huntington Disease - diagnosis
Huntington Disease - genetics
Huntington Disease - physiopathology
Huntington's disease
individuals at risk
Male
Medical sciences
Middle Aged
Neurology
Reaction Time
Trinucleotide Repeats
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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
ISSN:0148-639X
1097-4598
DOI:10.1002/mus.1177