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March 1977

Neuronal Ceroid-Lipofuscinosis

Author Affiliations

Dept of Medical Genetics Univ of British Columbia
Div of Neuropathology Vancouver General Hospital Vancouver, Canada

Arch Neurol. 1977;34(3):199. doi:10.1001/archneur.1977.00500150085018

To the Editor.—  We read with interest the article by Markesbery et al in the September issue of the Archives. We believe these authors' studies confirm our initial reports of the contribution to the diagnosis of the neuronal ceroid-lipofuscinosis by electron microscopical study of lymphocytes in patients with clinical manifestation of the disease.We have demonstrated a variety of cytoplasmic inclusions in lymphocytes from nine patients with various forms of ceroid-lipofuscinosis.1 Their article failed to mention that we found diagnostic inclusions in two children with the infantile or Finnish form of this disorder.We believe that an electron microscopical examination of skin biopsy specimens and/or lymphocytes in patients with the clinical manifestations of one of these diseases is a reliable and acceptable method of diagnosis.

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