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From genes to neuropathology: Integrative perspectives on the spectrum of spinocerebellar ataxias

Jeroen J. de Vries, Maria João da Costa Caiado, and Wilfred F.A. den Dunnen

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Volume 45 (2026) p. 86 - 97

Postmortem cerebellar and brainstem alterations in episodic ataxia type 1 and 2: Expanding the clinicopathological spectrum

Jeroen J. de Vries, Maria João da Costa Caiado, and Wilfred F.A. den Dunnen

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Abstract

Jeroen J. de Vries¹, Maria João da Costa Caiado²,³, and Wilfred F.A. den Dunnen²

¹Expertise Center for Movement Disorders, Department of Neurology, ²Department of Pathology and Medical Biology, Division of Pathology, University Medical Center Groningen, and ³Department of Molecular Pharmacology, University of Groningen, Groningen, The Netherlands
Background: Episodic ataxias (EAs) are rare autosomal-dominant channelopathies presenting with recurrent attacks of ataxia and variable neurological features. While MRI studies suggest mild cerebellar atrophy in some patients, detailed neuropathological descriptions are lacking. Materials and methods: We examined postmortem brains and spinal cords from two genetically confirmed patients: EA1 (KCNA1 Val174Phe mutation) and EA2 (CACNA1A A253Y mutation). Routine histology and immunohistochemistry were performed. Results: In EA1, the cerebellar vermis and hemispheres showed narrowing of the folia, segmental Purkinje cell loss, Bergmann gliosis, and scattered torpedoes. The dentate nucleus contained focal lipofuscin-laden macrophages and Rosenthal fibers. Concurrently, α-synuclein pathology (Braak stage 3) was also present, along with sparse age-related tau tangles and minimal vascular amyloid. In EA2, only focal Purkinje cell loss was detected, but novel p62-positive axonal and dendritic inclusions were observed in the cerebellar cortex and inferior olive. No additional α-synuclein, tau, or amyloid pathology was found. A concurrent glioblastoma was identified as the immediate cause of death. Conclusion: These are the first detailed autopsy reports of EA1 and EA2. Both revealed cerebellar pathology, with EA1 showing more pronounced Purkinje cell degeneration, while EA2 demonstrated previously undescribed p62-positive inclusions. These findings expand the clinicopathological spectrum of EAs and highlight the value of postmortem studies in elucidating underlying disease mechanisms.Correspondence to:
Wilfred F.A. den Dunnen, MD, PhD, Associate Professor in Neuropathology, Department Pathology and Medical Biology, University Medical Center Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands
Email: [email protected]

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