Familial Positional Downbeat Nystagmus and Cerebellar Ataxia: Clinical and Pathologic Findings

descriptionPublicationkeyboard_double_arrow_right Article 01 Apr 2005 English Publisher:WileyJournal:Annals of the New York Academy of Sciences, volume 1,039, pages 540-543 (issn: 0077-8923, eissn: 1749-6632,

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Authors: Jorge C, Kattah; Meena, Gujrati;

doi: 10.1196/annals.1325.063

pmid: 15827018

Familial Positional Downbeat Nystagmus and Cerebellar Ataxia: Clinical and Pathologic Findings

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Abstract

Abstract: A family with progressive cerebellar ataxia is reported. The earlier signs of cerebellar dysfunction was positional downbeat nystagmus (PDBN). An autopsy of one member with PDBN, who died early in the disease of unrelated causes, showed loss of Purkinje cells primarily in the nodulus.

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Keywords

Adult, Gait Ataxia, Male, Cerebellar Ataxia, Posture, Fixation, Ocular, Middle Aged, Nystagmus, Pathologic, Diplopia, Saccades, Humans, Female

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