Cortical Atrophy More Likely in Patients With Motor-Onset in Huntington Disease

Cortical atrophy is more likely to occur among patients with Huntington disease (HD) with motor-onset disease compared with patients who have a combination of motor and psychiatric symptoms during the first year of clinical onset, according to data presented at the International Congress of Parkinson’s Disease and Movement Disorders Society (MDS) Virtual Congress 2021, held from September 17 to 22, 2021.

Major symptom at clinical onset of HD can vary from motor, psychiatric, to both motor and psychiatric. However, it is not clear why these phenotypic differences occur within this patient population. 

The current study analyzed brain MRI characteristics in patients with HD and the association with major symptoms at disease onset.

Patients with HD were enrolled in the study from the National Institute of Neurology and Neurosurgery in Mexico. Patients were assessed for features of HD during the first year after major symptom onset, brain MRI characteristics, and the size of their trinucleotide cytosine-adenine-guanine (CAG) expansion, as quantified by triple prime polymerase chain reaction (PCR). Patterns in disease progression on the basis of initial symptoms were elucidated.

A total of 68 patients with HD (57.4% women; mean age, 49±12.7 years) were included in the study, with HD diagnosed 9.2±4.6 years previously and a CAG size of 46.4±5.1 repeats in length.

The major symptoms at clinical onset were motor (32.4%; n=22), psychiatric (30.9%; n=21), or mixed motor and psychiatric (36.8%; n=25).

During the comparative analysis, 69.1% (n=47) of patients presented with cortical atrophy. Stratified by cortical atrophy status, patients with vs without atrophy had a longer duration of HD (9.4 vs 8.9 years, respectively; P <.001), were more likely to present with motor symptoms alone than with motor with psychiatric symptoms (90.4% vs 56.0%, respectively; P =.02), and had shorter CAG expansions (45.8 vs 47.8 repeats; P =.03).

The study authors emphasized that these findings were not in accordance with previous studies, which attributed the onset of motor symptoms to atrophy progression from subcortical regions within the striatum to the cortical areas.

Additional research is needed to correlate MRI brain atrophy characteristics to the manifesting symptoms within the first year of clinical onset among patients with HD.

Reference

Estrada-Rodriguez H, Garcia-Romero JD, Muñuzuri-Camacho MA, et al. Brain MRI cortical atrophy correlation to clinical onset in Huntington’s disease. Presented at: MDS Virtual Congress 2021; September 17-22, 2021. Abstract 228.