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Researchers detect signs of neuronal damage in the earliest stage of Huntington's disease

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Researchers detect signs of neuronal damage in the earliest stage of Huntington's disease

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Before motor or cognitive impairments appear and before brain volume loss becomes evident, some individuals carrying the genetic mutation that causes Huntington's disease already show signs of neuronal injury. This is demonstrated by a study conducted by the Institut de Recerca Sant Pau (IR Sant Pau), which has detected elevated levels of neurofilament light chain (NfL), a protein that indicates this damage, in individuals classified in the earliest stage of the disease.

The finding suggests that different biological conditions may coexist within the presymptomatic phase of the disease, which current criteria cannot distinguish.

The study, published in Movement Disorders, analyzed 296 participants from the Barcelona BCN-HD cohort and the international HDClarity cohort. The findings were also presented at the European Huntington's Disease Network congress, held from Oct. 22 to 24 in Kraków, Poland.

Its first authors are Dr. Jesús Pérez-Pérez and Dr. Gonzalo Olmedo-Saura, researchers in the Movement Disorders Research Group at IR Sant Pau. The team compared biomarkers measured in cerebrospinal fluid and blood with clinical assessments and brain imaging to better understand what happens before the disease becomes clinically apparent.

"Within the earliest stage of the classification, we find individuals with different biological conditions. Some already have elevated levels of a marker of neuronal damage, even though they do not show brain atrophy. This information can help us better characterize these early changes," explains Pérez-Pérez.


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