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Spinocerebellar ataxia 2 (SCA2) is one of the most common autosomal dominant degenerative ataxias in the world.
The clinical features are progressive ataxia, slow low eye saccades, hyporeflexia, and multiple occurrences.
Sexual neuropathy
.
Considering the upcoming disease-modifying therapies and several promising therapies, there is an urgent need for easily available, reliable and objective tools to stratify SCA2 patients in different stages, so as to assess the severity of the disease, to track the progression of the disease, and Pave the way for future experiments
Spinocerebellar ataxia 2 (SCA2) is one of the most common autosomal dominant degenerative ataxias in the world.
Neurofilament light chain (NFL) as a candidate biomarker is receiving more and more attention, because the release of NFL increases sharply with axon damage
Participants were recruited from a medical center in China, and individuals with SCA2 were genetically diagnosed
.
The single molecule array method was used to determine the NFL level
Participants were recruited from a medical center in China, and individuals with SCA2 were genetically diagnosed
- 49 patients with clinical manifestations of SCA2, 10 patients with preclinical SCA2 and 92 controls were enrolled
. - Serum and cerebrospinal fluid NFL have high consistency (r=0.
868, p<0.
0001)
In SCA2 patients, serum NFL levels are correlated with disease intensity and are closer to the estimated age of onset of preclinical SCA2 patients
https://n.
neurology.
org/content/early/2021/10/27/WNL.
0000000000012945.
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