Systematic review details clinical manifestations and diagnostic challenges of neurodegenerative disorders, highlighting genetic factors.
This systematic review examines diseases within the neuroacanthocytosis group, including chorea-acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington's-like type 2 disease (HDL2), and other neurodegenerative disorders. The objective of this review is to provide a comprehensive overview of the clinical manifestations, diagnostic challenges, and current understanding of these rare hereditary diseases. Each nosological unit from this group is caused by various genetic mutations and has a different type of inheritance, pathogenetic changes, and clinical picture. Due to the rarity and relatively little knowledge of the pathogenetic foundations of these diseases, their diagnosis is a difficult task, and their treatment, as a rule, is only symptomatic
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Spesivtseva et al. (2023) studied this question.
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