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Sandhoff disease: ganglioside G M and asialo‐G M2 accumulation in the cerebrospinal fluid
Author(s) -
BERNHEIMER H.,
MOLZER BRUNHILDE,
DEISENHAMMER E.
Publication year - 1977
Publication title -
journal of neurochemistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.75
H-Index - 229
eISSN - 1471-4159
pISSN - 0022-3042
DOI - 10.1111/j.1471-4159.1977.tb09630.x
Subject(s) - cerebrospinal fluid , ganglioside , sandhoff disease , gangliosidosis , concomitant , medicine , disease , pathology , chemistry , biochemistry
In an earlier investigation it was found that ganglioside G M2 the typical neuronal storage product in GMz‐gangliosidosis, was accumulated also in the cerebrospinal fluid (CSF) of a Tay‐Sachs patient. The asialo derivative of ganglioside G M2 , G M2 , which is a concomitant storage product in the brain of these patients, was not detected in the CSF of the patient investigated (BERNHEIMER, 1968). In the present account, a report is made on the accumulation of ganglioside G M2 and of G M2 in the CSF of a patient affected by Sandhoff disease.