Abstract
A case of hereditary acetazolamide-responsive paroxysmal ataxia with mild mental retardation in an autopsied Japanese man is described. His ataxic attacks had occurred for approximately 65 years since the age of 6. One of his daughters had severe mental retardation and epilepsy, and the other had paroxysmal ataxic attacks and mild mental retardation. Analysis of the subject’s CACNA1A gene and that in his daughter revealed neither mutations nor CAG expansion. Neuropathologically, cortical degeneration consisting of the marked loss of Purkinje and granule cells was found exclusively in the cerebellar vermis. This was consistent with findings at autopsy for cases reported as spinocerebellar ataxia 6. In addition, there were minor anomalies, such as hypoplastic cerebellum and brainstem, heterotopic Purkinje cells, and cortical microdysgenesis of the temporal lobe. It is considered that the cerebellar cortical degeneration and the minor malformations found in the brain are closely related to one another, rather than having occurred independently.
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Mochizuki, Y., Kawata, A., Mizutani, T. et al. Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2. Acta Neuropathol 108, 345–349 (2004). https://doi.org/10.1007/s00401-004-0899-y
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DOI: https://doi.org/10.1007/s00401-004-0899-y