Unraveling the role of relative telomere length and CAG expansion on initial symptoms of Juvenile Huntington Disease.
Adriana PerezGrovas-SaltijeralAdriana Ochoa-MoralesAurelio Jara-PradoRafael Velázquez-CruzBerenice Rivera-ParedezDavid Dávila-OrtizdeMontellanoEdmar O Benítez-AlonsoMónica Santamaría-OlmedoRosalba Sevilla-MontoyaErnesto Marfil-MarínMargarita Valdés-FloresLeticia Martínez-RuanoAlejandra Camacho-MolinaAlberto Hidalgo-BravoPublished in: European journal of neurology (2022)
For the best of our knowledge this is the largest cohort of JHD patients reported. Psychiatric manifestations deserve special attention when JHD is suspected and epilepsy is especially important in the youngest patients. Initial symptoms seem to be influenced by CAG expansion and therefore age of onset. RTL is significantly reduced in JHD patients which can influence the characteristic neurodegeneration of JHD and contribute to the clinical discrepancy between adult and juvenile forms of HD.