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

Marina De Tommaso, Vittorio Sciruicchio, Antonella Spinelli, Nicola Specchio, Olimpia Difruscolo, Francomichele Puca, Luigi Maria Specchio

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)1520-1525
Number of pages6
JournalMuscle and Nerve
Volume24
Issue number11
DOIs
Publication statusPublished - 2001

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Keywords

  • Blink reflex
  • CAG expansion
  • Huntington's disease
  • Individuals at risk

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

De Tommaso, M., Sciruicchio, V., Spinelli, A., Specchio, N., Difruscolo, O., Puca, F., & Specchio, L. M. (2001). Features of the blink reflex in individuals at risk for Huntington's disease. Muscle and Nerve, 24(11), 1520-1525. https://doi.org/10.1002/mus.1177