Objective: The aim of our study is to determine the frequency and pattern of neuropathy in patients with the most frequent hereditary ataxias in Serbian population, spinocerebellar ataxia type 1 (SCA1), type 2 (SCA2) and Friedreich’s ataxia (FRDA).

Background: Autosomal dominant spinocerebellar ataxia (SCA) and Friedreich’s ataxia (FRDA) are progressive degenerative diseases, in which, beside the involvement of the cerebellum, the nerve pathways that connect the cerebellum to other structures are also involved. In addition to cerebellar signs and non-cerebellar signs, the involvement of the peripheral nervous system, also contribute to the clinical presentation and functional disability.

Method: The study group consisted of 46 patients who had previously undergone genetic analysis. All patients were thoroughly examined and evaluated regarding the presence of cerebellar and non-cerebellar signs, additionally using Scale for rating ataxias (SARA). For the examination of the presence of neuropathy, nerve conduction studies were performed in all patients.

Results: Neuropathy is present in 80% of FRDA and in 37% of SCA1 and SCA2 patients. A statistically significant difference was found in the average duration of the disease between the group of patients who had neuropathy 13.9±1.67 years and those who did not had neuropathy 7.5±1.62. All patients who had neuropathy in the group of patients with SCA1 and SCA2 had mixed sensorimotor neuropathy, while in the group of patients with FRDA 56% had mixed sensorimotor and 44% of patients had isolated sensory neuropathy. By comparing the duration of the disease in the group of patients with FRDA in relation to the presence of isolated sensory and mixed neuropathy, no statistically significant difference was found. SARA score was statistically significantly higher in patients with neuropathy 22.7±3.7 compare to patients without neuropathy 12.9±1.27. No significant difference was seen in relation to the presence of muscle atrophy and muscle weakness.

Conclusion: Neuropathy is clearly manifested in all presented groups of ataxias as sensorimotor type, predominantly in patients with FRDA. The presence of neuropathy is directly related to the duration of the disease, as well as to the more severe clinical manifestation of the disease, which can serve as a prognostic marker in monitoring the disease.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/presence-of-neuropathy-in-most-frequent-hereditary-cerebellar-ataxia-sca1-sca2-and-frda-in-serbian-population/