AAN 2014

Clinical Pyramidal Signs in a Series of Patients with Huntington’s Disease 

Emilia Gatto, Virginia Laura Parisi, Ana Sanguinetti, Jose Luis Etcheverry and Gabriel Persi

1. Objective: To describe the occurrence of pyramidal signs in a series of HD patients.Background: Although the major neuronal degeneration in Huntington’s disease (HD) impairs striatal spiny neurons, a primary motor cortex involvement with a marked loss of pyramidal neurons have been documented. Recent studies suggest that cortical changes begin early in HD and might explain the clinical heterogeneity.Methods: Subjects with HD from our Institution were examined for pyramidal signs. Demographic, epidemiological and clinical data were analyzed. The study was approved by the Institutional Review Board. Non-parametric tests were used.Results: Twenty HD patients were evaluated (12 women, 8 men), mean age 44 years (range 15-80 years), mean age at onset 34 years, and mean disease duration of 8.8 years, (range 1-27 years). Mean CAG repeats in expanded allele was 45.9 (range 38-66). Juvenile HD (JHD) was identified in 6 patients, mean age at onset was 12.6 (range 8-19 years). Pyramidal signs were identified in 16/20 individuals; all JHD showed pyramidal impairment. The mean CAG repeats length was 47.1 and 41.5 in patients with and without pyramidal signs, respectively (p=0.109). Disease duration was longer in patients with pyramidal signs, without reaching statistical significance. Pyramidal signs in patients with dominant motor symptoms at onset were observed in 66.7% of JHD and in 30% of adult HD patients (p=0.3024).Conclusions: Present results add to the growing body of postmortem, experimental and functional evidence that support a pyramidal impairment in HD suggesting a possible cortical contribution to the variable HD phenotypes.
2. Neurology April 8, 2014 vol. 82 no. 10 Supplement P4.060