# The neural underpinnings of cognitive and postural profile of a young adult with congenital cerebellar athrophy: a longitudinal case report

**Authors:** Maria Devita, Adele Ravelli, Chiara Ceolin, Marina De Rui, Lorenzo Pini, Matteo Bendini, Michela Sarlo, Giuseppe Sergi, Umberto Castiello, Daniela Mapelli, Chiara Begliomini

PMC · DOI: 10.3389/fnins.2026.1724744 · Frontiers in Neuroscience · 2026-02-05

## TL;DR

This case study explores how cerebellar atrophy in a young adult affects both motor and cognitive functions over time.

## Contribution

The study provides longitudinal insights into the cognitive and postural effects of congenital cerebellar atrophy.

## Key findings

- Cognitive and motor decline was observed, particularly in executive and attentional functions.
- Neuroimaging showed gray matter volume reductions in cerebellar regions linked to cognition.
- The case highlights a potential link between cerebellar atrophy and cognitive affective syndrome.

## Abstract

For decades the cerebellum has been conceived as an organ chiefly involved in motor control, gait and posture. However, more recent and increasing evidence shows that the cerebellum is also involved in cognition and affection, and that damage to this structure may significantly compromise the overall neuropsychological functioning. Here we report we report the evolution along time of a possible congenital cerebellar atrophy and its effects on gross motor and cognitive functioning in a 41-years old man. Advanced neuroimaging analyses are also provided in order to understand the anatomo-functional correlates of cerebellar damage, with a novel focus on its different lobules. It is hypothesized that congenital cerebellar atrophy, initially compromising motor control, gradually brings to cognitive frailties. Findings related to neuroimaging, neuropsychological and postural data reveal a progressive decline in cognitive and gross motor capacities, particularly affecting executive and attentional functions. Neuroimaging results suggest specific gray matter volume reductions within cerebellar regions known to influence cognitive processes. This case report provides a nuanced look into the neuropsychological impact of cerebellar atrophy over time, shedding light on the elusive cognitive role of the cerebellum and its potential link to cerebellar cognitive affective syndrome.

## Full-text entities

- **Genes:** FANCB (FA complementation group B) [NCBI Gene 2187] {aka FA2, FAAP90, FAAP95, FAB, FACB}
- **Diseases:** motor impairments (MESH:D000068079), memory deficits (MESH:D008569), cognitive decline (MESH:D003072), LS (MESH:D007888), multiple sclerosis (MESH:D009103), esotropia (MESH:D004948), impairments in postural control (MESH:D007174), fluency (MESH:D013064), memory or attention disturbances (MESH:D001289), psychomotor slowing (MESH:D011596), upper limb ataxia (MESH:D001259), diplopia (MESH:D004172), postural instability (MESH:D054972), dysmetria (MESH:D002524), cerebellar degeneration (MESH:D013132), Cerebellar Cognitive Affective Syndrome (MESH:D002526), deficits (MESH:D009461), GMV atrophy (MESH:D002549), oculomotor deficits (MESH:D015840), nystagmus (MESH:D009759), motor learning difficulties (MESH:D007859), structural (MESH:D020914), impaired language comprehension (MESH:D007806), gait disturbances (MESH:D020233), mood alterations (MESH:D019964), decline (MESH:D060825), Alzheimer's Disease (MESH:D000544), pituitary adenoma (MESH:D010911), lesions to cerebellar lobule VI (MESH:D000069337), visual and motor limitations (MESH:D014786), neurodegenerative conditions (MESH:D019636), headache (MESH:D006261)
- **Chemicals:** SUIT (-)
- **Species:** Homo sapiens (human, species) [taxon 9606], Crohivirus B (no rank) [taxon 2169854]

## Full text

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## Figures

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## References

52 references — full list in the complete paper: https://tomesphere.com/paper/PMC12916574/full.md

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Source: https://tomesphere.com/paper/PMC12916574