This diagnostic imaging panel presents a series of brain MRI scans illustrating progressive cerebellar atrophy in Spinocerebellar Ataxia Type 13 (SCA13). The primary images are T1-weighted midline sagittal sections (a-f), accompanied by T2-weighted axial insets (a, d, e, f). The sagittal views demonstrate varying degrees of cerebellar vermis shrinkage and enlargement of the pericerebellar CSF spaces. Notably, while the cerebellum shows marked volume loss particularly in long-duration cases (d and f), the brainstem and pons appear relatively preserved. The axial insets highlight widening of the cerebellar fissures and thinning of the folia, characteristic of global cerebellar atrophy. Serial scans for two patients (b to e; c to f) taken over a 5-year interval show subtle radiographic progression despite clinically significant increases in Scale for Assessment and Rating of Ataxia (SARA) scores. The images correlate disease duration (dd) and clinical severity (ss) with structural neuroanatomical changes, serving as an educational resource for identifying isolated cerebellar neurodegeneration.

This diagnostic image set features T1-weighted MRI scans of the cerebellum and brainstem from eleven patients with Spinocerebellar Ataxia type 2 (SCA2), labeled CB1 through CB12 (excluding CB11). The scans are presented in representative axial (z-plane) and coronal (y-plane) sections, all normalized to the Spatially Unbiased Infratentorial Template (SUIT) shown in the bottom right for comparison. The educational focus is on the spectrum of cerebellar atrophy characteristic of SCA2. Morphological changes across the patient cohort include a significant reduction in cerebellar volume, narrowing of the cerebellar folia, and prominent widening of the cerebellar sulci and fissures compared to the healthy template. Specific variations are visible in the cerebellar vermis and hemispheres, ranging from mild volume loss to severe shrinkage (e.g., CB6 and CB10). These neuroimaging findings demonstrate the progressive neurodegenerative effects on the posterior fossa structures, which are essential for diagnosing and monitoring the clinical severity of autosomal dominant ataxias.

This diagnostic imaging panel presents a multi-planar MRI series of the brain for two separate individuals diagnosed with Spinocerebellar Ataxia Type 5 (SCA5). The top row (a–c) displays the proband, while the bottom row (d–f) displays a sporadic patient. The modalities include sagittal T1-weighted images (a, d), coronal T2-weighted images (b, e), and axial T1-weighted images (c, f). The primary clinical finding across both patients is moderate cerebellar atrophy. In the sagittal views, there is noticeable widening of the cerebellar fissures and a reduction in the volume of the cerebellar vermis. The coronal T2-weighted images highlight prominent cerebellar folia and enlarged CSF spaces surrounding the cerebellum, indicative of parenchymal loss. Despite the cerebellar changes, the supratentorial structures, including the cerebral cortex and ventricular system, appear largely preserved with normal ventricular size. This pattern is characteristic of pure cerebellar ataxia syndromes where atrophy is predominantly isolated to the infratentorial compartment, specifically the cerebellum and brainstem.

Diagnostic neuroimaging (MRI) of the brain in T1-weighted sequences, presenting a sagittal view (A) and an axial view (B). The images demonstrate significant olivopontocerebellar atrophy in a patient with Spinocerebellar Ataxia Type 2 (SCA2). In the sagittal view, there is marked volume loss of the cerebellum and the brainstem (specifically the pons and medulla), characterized by prominent cerebellar fissures and a diminished pontine belly. The axial view confirms these findings, showing disproportionate cerebellar atrophy relative to the cerebral hemispheres, with widening of the cerebellar sulci and thinning of the folia. These radiological features are consistent with the clinical presentation of progressive ataxia, dysarthria, and slowed saccadic eye movements. The images serve as an educational example of neurodegeneration in Autosomal Dominant Cerebellar Ataxia (ADCA), highlighting the anatomical distribution of tissue loss in the posterior fossa.