Наследственные атаксии, протекающие под маской детского церебрального паралича

Introduction. Ataxic cerebral palsy (CP) is the least common of all forms of CP, occurring in less than 1 in 10 CP patients. By the age of 5 years, more than half of these children have their diagnosis reconsidered and other conditions not related to CP are confirmed. There is accumulating evidence that a number of genetic diseases may be characterized by phenotypic similarities to the ataxic form of CP. Some of them manifest themselves from birth, while others manifest later and have a progressive course.

Objective. To study the features of the clinical picture, laboratory, and instrumental data that allow distinguishing patients with ataxic СP from patients with hereditary forms of ataxia.

Materials and methods. The study included fifty nine children aged 1 to 3 years and 8 months, who were divided into three groups: with confirmed ataxic CP (n = 29), hereditary diseases (ataxia with a confirmed genetic diagnosis) (n = 13), with progressive ataxia of presumably genetic origin, not finally verified (n = 17). All children underwent a detailed assessment of the anamnesis, neurological examination, neuroimaging (MRI). The severity of motor disorders was assessed using the GMFSC scale, and the severity of ataxia was assessed using the Pediatric Ataxia Scale (PAS) developed by us. The PAS was used to evaluate the development of motor skills and symptoms indicating to the impairment of the central nervous system structures responsible for the coordination of movements. According to the total score, the ataxia severity was considered as mild (1–8 points), moderate (9–13 points) and severe (14–23 points). All patients were followed for 5 years.

Results. At inclusion in the study, there were no significant differences in the PAS average scores between the groups, and most patients had moderate ataxia. However, the trend in the PSA scores over the five-year observation period of patients turned out to be multidirectional: in children with ataxic CP, they tended to stabilize and gradually improve, whereas for patients in the groups with hereditary and presumably genetic ataxias, their steady deterioration was characteristic due to the increase in motor disorders. It should be emphasized that the trend in the PSA scores in patients of the last two groups are similar.

According to MRI data, changes typical of hypoxic-ischemic lesion in the form of periventricular leukopathy prevailed in the CP group (73.3%). Another frequently detected abnormality was cerebellar hypoplasia (46.4%). In the group of hereditary ataxias, periventricular leukopathy was somewhat less common (61.5%), other findings were cortical atrophy (30.7%), hypomyelination (7.6%), brainstem hypoplasia (7.6%) and cerebellar atrophy (7.6%).

Conclusion. The main criteria of differential diagnosis between hereditary ataxias and the ataxic form of CP are represented by the progression in the clinical picture of the disease, increasing abnormalities on the MRI and molecular genetic identification of mutations that determine diseases accompanied by ataxia in childhood.

Compliance with ethical standards. The study was conducted in accordance with the principles of the Declaration of Helsinki. The study was approved by the Local Ethics Committee of the N.I. Pirogov Russian National Research Medical University (Pirogov University), Moscow, 117513, Russian Federation; (extract from the minutes of meeting No. 180 dated 12/17/2028). All patients or their legal representatives signed voluntary informed consent.

Contribution:
Razheva D.S. — data collection and analysis, review of publications, writing the text of the manuscript;
Khondkarian G.Sh. — data analysis, writing the text of the article, final approval for the publication of the manuscript;
Zavadenko N.N. — concept development, writing the text of the article, final approval for the publication of the manuscript.
All co-authors — approval of the final version of the manuscript, responsibility for the integrity of all parts of the manuscript.

Funding. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: September 1, 2025
Accepted: September 22, 2025
Published: October 31, 2025

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