Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder characterized by motor, cognitive, and psychiatric symptoms. This case report describes a 40-year-old female presenting with a one-year history of progressive chorea affecting her limbs and face, speech difficulties, gait instability, and behavioral changes. Neurological examination revealed a Mini-Mental State Examination (MMSE) score of 19/30 and generalized chorea with positive milkmaid’s grip and piano key signs. Brain MRI showed bilateral caudate and putaminal atrophy, enlarged frontal horns, and globus pallidus mineralization. Genetic testing confirmed HD with 48 CAG repeats on one allele and 21 on the other. Notably, her mother had a later onset of similar symptoms in her 60s, suggesting maternal anticipation in this case. This observation, along with the patient’s relatively early disease onset and severity, highlights the complex inheritance patterns and potential influence of maternal transmission, somatic mosaicism, or other modifying factors in HD. While paternal transmission is typically associated with anticipation, this case underscores the importance of considering non-canonical inheritance patterns and the limitations of CAG repeat length alone in predicting disease onset and severity. This case emphasizes the need for further research to fully elucidate the interplay of genetic and environmental factors in HD pathogenesis and phenotypic variability.
Keywords: Huntington’s disease, Neurodegeneration, CAG repeat expansion.
Citation: Aakriti et al., (2025). Early-Onset Huntington’s Disease with Maternal Anticipation: A Case Report. J Medical Case Repo 7(3):1-4. DOI : https://doi.org/10.47485/2767-5416.1115