Objective: To describe brain Magnetic Resonance Imaging (MRI) characteristics in Latin American individuals with Huntington’s Disease (HD) and to correlate them to major symptom at the onset.

Background: Huntington’s disease (HD) is the most common monogenic neurological disorder in the developed world. HD is caused by an expansion of a trinucleotide Cytosine-Adenine-Guanine (CAG) [1]. MRI offers an in vivo method of measuring structural and functional brain change and could correlate with the onset of symptoms. The major symptom at the onset can be variable, including motor, psychiatric, or mixed [2]. Phenotypic differences by onset have not been well-characterized in the HD literature.

Method: A comparative cross-sectional study in patients attending the National Institute of Neurology and Neurosurgery in Mexico City. The demographic variables registered included gender, age, and disease duration. CAG size was detected by triple prime polymerase chain reaction (TP-PCR).
Major symptom at onset was classified depending on the predominant symptom that affected the quality of life within the first year.

Results: A total of 68 (57.4% women) were evaluated, mean age was 49 years(y) (±12.7) with a mean disease duration of 9.2y (±4.6). The mean CAG size was 46.4 (±5.1). According to major symptom at the onset, psychiatric were 21 (30.9%), motor were 22 (32.4%) and mixed were 25 (36.8%).
In the comparative analysis, cortical atrophy was found in 47 (69.1%), significant differences with respect to patients without cortical atrophy were found in CAG size (45.8 vs 47.8, p=0.03) and disease duration (9.4 vs 8.9, p<0.001)
Concerning major symptom at the onset, the motor had more cortical atrophy in comparison to mixed (90.4% vs 56%, p=0.02).

Conclusion: Classically it has been mentioned that the neurodegenerative process begins in subcortical regions, within the striatum. As the degenerative process progresses involves cortical areas that correlate with the onset of motor symptoms including the disease prodromal phases. Our results are contrasting; patients with motor-onset are more likely to develop cortical atrophy, compared to patients who, within their first year of clinical onset, start with motor and psychiatric symptoms.

References: [1]. Fisher ER, Hayden MR. Multisource ascertainment of Huntington disease in Canada: Prevalence and population at risk: Multisource Ascertainment of BC HD Patients. Mov Disord. 2014 Jan;29(1):105–14. DOI: 10.1002/mds.25717 [2]. Orth M, Schwenke C. Age-at-onset in Huntington disease. PLoS Curr. 2011 Jul 29;3:RRN1258. DOI: 10.1371/currents.RRN1258. DOI: 10.1371/currents.RRN1258.

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