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Neurology. 2007 Jul 3;69(1):79-83.

Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene.

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Pôle d'Epileptologie Clinique, Hôpital de la Salpêtrière, Paris Cedex 13, France.


Familial encephalopathy with neuroserpin inclusion bodies is a recently described neurodegenerative disease that is responsible for progressive myoclonic epilepsy or presenile dementia. In a French family with the S52R mutation of the neuroserpin gene, progressive myoclonic epilepsy was associated with a frontal syndrome. The typical cerebral inclusions (Collins bodies) were abundant in the frontal cortex and in the head of the caudate nucleus but spared the cerebellum.

[Indexed for MEDLINE]

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